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
NOC2L	26155	broad.mit.edu	37	1	886561	886561	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:886561C>T	uc001abz.3	-	12	1448	c.1389G>A	c.(1387-1389)ACG>ACA	p.T463T	NOC2L_uc001aby.3_Silent_p.T260T|NOC2L_uc009vjq.2_Silent_p.T463T	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	463						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCGAGAGCAGCGTCAGGGCAC	0.677												
SDF4	51150	broad.mit.edu	37	1	1153955	1153955	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:1153955G>A	uc001adh.3	-	6	1124	c.795C>T	c.(793-795)ACC>ACT	p.T265T	SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Silent_p.T265T|SDF4_uc009vjv.2_Silent_p.T143T|SDF4_uc009vjw.2_RNA	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	265	EF-hand 4.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding			upper_aerodigestive_tract(1)|large_intestine(1)	2	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;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GGTTCTCCACGGTGCCCACGG	0.592												
TAS1R3	83756	broad.mit.edu	37	1	1267095	1267095	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:1267095T>C	uc010nyk.1	+	2	269	c.269T>C	c.(268-270)CTG>CCG	p.L90P		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	90	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)	TCGGATCTGCTGCCCGGGCTG	0.622												
PLCH2	9651	broad.mit.edu	37	1	2415898	2415898	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:2415898G>A	uc001aji.1	+	5	931	c.657G>A	c.(655-657)ACG>ACA	p.T219T	PLCH2_uc010nyz.1_Silent_p.T7T|PLCH2_uc009vle.1_Silent_p.T7T|PLCH2_uc001ajj.1_Silent_p.T7T|PLCH2_uc001ajk.1_Silent_p.T7T	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	219	EF-hand 2.				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)		AAGCGGACACGGATGACCACC	0.597												
ACTRT2	140625	broad.mit.edu	37	1	2939367	2939367	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:2939367C>A	uc001ajz.2	+	1	1322	c.1117C>A	c.(1117-1119)CAG>AAG	p.Q373K		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	373						cytoplasm|cytoskeleton					0	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)		CTCCGTGGTGCAGAGAAGATG	0.567												
MEGF6	1953	broad.mit.edu	37	1	3410383	3410383	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:3410383C>T	uc001akl.2	-	34	4566	c.4339G>A	c.(4339-4341)GGT>AGT	p.G1447S	MEGF6_uc001akk.2_Intron	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	1447						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)		AGGCAGAGACCGGTGACAGGG	0.662												
MEGF6	1953	broad.mit.edu	37	1	3417655	3417655	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:3417655C>T	uc001akl.2	-	20	2677	c.2450G>A	c.(2449-2451)TGC>TAC	p.C817Y	MEGF6_uc001akk.2_Missense_Mutation_p.C712Y	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	817						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)		GCCTGCTGGGCACACTACAGG	0.667												
MEGF6	1953	broad.mit.edu	37	1	3421847	3421847	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:3421847C>T	uc001akl.2	-	17	2340	c.2113G>A	c.(2113-2115)GTG>ATG	p.V705M	MEGF6_uc001akk.2_Missense_Mutation_p.V600M	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	705						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)		TCACAGGCCACGCCCACTGGG	0.687												
PLEKHG5	57449	broad.mit.edu	37	1	6530390	6530390	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:6530390T>C	uc001ano.1	-	17	1975	c.1874A>G	c.(1873-1875)GAC>GGC	p.D625G	PLEKHG5_uc001ann.1_Missense_Mutation_p.D606G|PLEKHG5_uc001anq.1_Missense_Mutation_p.D646G|PLEKHG5_uc001anp.1_Missense_Mutation_p.D646G|PLEKHG5_uc001anj.1_Missense_Mutation_p.D130G|PLEKHG5_uc009vma.1_Missense_Mutation_p.D409G|PLEKHG5_uc010nzr.1_Missense_Mutation_p.D638G|PLEKHG5_uc001ank.1_Missense_Mutation_p.D569G|PLEKHG5_uc009vmb.1_Missense_Mutation_p.D569G|PLEKHG5_uc001anl.1_Missense_Mutation_p.D569G|PLEKHG5_uc001anm.1_Missense_Mutation_p.D569G|PLEKHG5_uc001anr.1_5'Flank	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	625					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|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CGCTGTCAAGTCCAGGTGCAG	0.617												
SLC45A1	50651	broad.mit.edu	37	1	8390770	8390770	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:8390770G>A	uc001apb.2	+	4	1217	c.1217G>A	c.(1216-1218)CGG>CAG	p.R406Q	SLC45A1_uc001apc.2_Missense_Mutation_p.R104Q	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	406					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTTCCCCCGGGCCCCCGAC	0.677												
RERE	473	broad.mit.edu	37	1	8684392	8684392	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:8684392A>G	uc001ape.2	-	4	1183	c.373T>C	c.(373-375)TGT>CGT	p.C125R	RERE_uc001apf.2_Missense_Mutation_p.C125R|RERE_uc001aph.1_Missense_Mutation_p.C125R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	125	BAH.				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)		TGAATGCTACAGATGAAATAC	0.358												
PIK3CD	5293	broad.mit.edu	37	1	9784903	9784903	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:9784903G>A	uc001aqb.3	+	23	3114	c.2906G>A	c.(2905-2907)CGC>CAC	p.R969H	PIK3CD_uc010oaf.1_Missense_Mutation_p.R968H|PIK3CD_uc001aqe.3_Missense_Mutation_p.R993H	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	969	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCTGCGGCGCCACGGGCTT	0.622											OREG0013083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIF1B	23095	broad.mit.edu	37	1	10386385	10386385	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:10386385C>T	uc001aqx.3	+	27	3094	c.2892C>T	c.(2890-2892)TAC>TAT	p.Y964Y	KIF1B_uc001aqw.3_Silent_p.Y918Y|KIF1B_uc001aqy.2_Silent_p.Y938Y|KIF1B_uc001aqz.2_Silent_p.Y964Y|KIF1B_uc001ara.2_Silent_p.Y924Y|KIF1B_uc001arb.2_Silent_p.Y950Y	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	964					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACCCGTTTTACGACCGATCCC	0.537												
SRM	6723	broad.mit.edu	37	1	11115064	11115064	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:11115064G>A	uc001arz.1	-	7	934	c.843C>T	c.(841-843)TCC>TCT	p.S281S	SRM_uc001ary.1_Silent_p.S142S	NM_003132	NP_003123	P19623	SPEE_HUMAN	spermidine synthase	281					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity				0	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GGTGCACGTCGGAGTTGTAGT	0.687												
MTOR	2475	broad.mit.edu	37	1	11307985	11307985	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:11307985T>C	uc001asd.2	-	7	1128	c.1007A>G	c.(1006-1008)TAC>TGC	p.Y336C		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	336					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|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						GTGAGAGCTGTACCCCAGCAG	0.572												
UBIAD1	29914	broad.mit.edu	37	1	11345717	11345717	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:11345717C>T	uc001asg.2	+	2	880	c.546C>T	c.(544-546)TAC>TAT	p.Y182Y		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	182					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)		GATTCAAGTACGTGGCTCTGG	0.552												
CLCN6	1185	broad.mit.edu	37	1	11889314	11889314	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:11889314G>C	uc001ate.3	+	13	1296	c.1183G>C	c.(1183-1185)GTG>CTG	p.V395L	CLCN6_uc009vnh.1_Missense_Mutation_p.G339A|CLCN6_uc010oat.1_Missense_Mutation_p.V111L|CLCN6_uc010oau.1_Missense_Mutation_p.V373L	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	395					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				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)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTCGATGGTGTTAGGAGA	0.512												
AADACL4	343066	broad.mit.edu	37	1	12725975	12725975	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:12725975C>T	uc001auf.2	+	4	453	c.453C>T	c.(451-453)TAC>TAT	p.Y151Y		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	151	Lumenal (Potential).					integral to membrane	carboxylesterase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GTTTTAGGTACCGCAAGCTTC	0.502												
LOC649330	649330	broad.mit.edu	37	1	12907847	12907847	+	Missense_Mutation	SNP	C	C	T	rs150230498		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:12907847C>T	uc009vno.2	-	1	391	c.296G>A	c.(295-297)CGA>CAA	p.R99Q	HNRNPCL1_uc010obf.1_Missense_Mutation_p.R99Q	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	99							nucleic acid binding|nucleotide binding				0						CGCTGCTGATCGTTTCACACC	0.488												
PRDM2	7799	broad.mit.edu	37	1	14105507	14105507	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:14105507G>A	uc001avi.2	+	8	2073	c.1217G>A	c.(1216-1218)CGG>CAG	p.R406Q	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.R406Q|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.R163Q|PRDM2_uc001avk.2_Missense_Mutation_p.R205Q|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	406	C2H2-type 2.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ATTAACCGGCGGCGACATGAG	0.517												
PRDM2	7799	broad.mit.edu	37	1	14107336	14107336	+	Missense_Mutation	SNP	G	G	A	rs138768059		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:14107336G>A	uc001avi.2	+	8	3902	c.3046G>A	c.(3046-3048)GCA>ACA	p.A1016T	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.A1016T|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.A815T|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1016	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAATGCCACCGCACAGTCCCC	0.642												
TMEM82	388595	broad.mit.edu	37	1	16071011	16071011	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:16071011G>A	uc001axc.2	+	4	831	c.693G>A	c.(691-693)TCG>TCA	p.S231S		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	231	Leu-rich.					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGACCACCTCGGAGGCCATGC	0.642												
CLCNKB	1188	broad.mit.edu	37	1	16377497	16377497	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:16377497C>T	uc001axw.3	+	12	1261	c.1181C>T	c.(1180-1182)CCG>CTG	p.P394L	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.P394L|CLCNKB_uc001axy.3_Missense_Mutation_p.P225L	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	394					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTACCACCCGCGGTTCACC	0.637												
ATP13A2	23400	broad.mit.edu	37	1	17331318	17331318	+	Splice_Site	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:17331318T>C	uc001baa.2	-	5	538	c.348_splice	c.e5-1	p.S116_splice	ATP13A2_uc001bab.2_Splice_Site_p.S116_splice|ATP13A2_uc001bac.2_Splice_Site_p.S116_splice	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCTCCAGGCTGGGGAAGCAG	0.667												
IGSF21	84966	broad.mit.edu	37	1	18661444	18661444	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:18661444G>A	uc001bau.1	+	4	747	c.364G>A	c.(364-366)GAC>AAC	p.D122N		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	122	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGGCATCTACGACCGCGCCAC	0.622												
IGSF21	84966	broad.mit.edu	37	1	18691970	18691970	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:18691970T>C	uc001bau.1	+	6	1177	c.794T>C	c.(793-795)ATA>ACA	p.I265T	IGSF21_uc001bav.1_Missense_Mutation_p.I86T	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	265						extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ACAGAGAACATACCAGAGACG	0.672												
KIAA0090	23065	broad.mit.edu	37	1	19549974	19549974	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:19549974G>A	uc001bbo.2	-	19	2335	c.2292C>T	c.(2290-2292)GGC>GGT	p.G764G	KIAA0090_uc001bbn.2_5'Flank|KIAA0090_uc001bbp.2_Silent_p.G763G|KIAA0090_uc001bbq.2_Silent_p.G763G|KIAA0090_uc001bbr.2_Silent_p.G742G	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	764	DUF1620.|Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GCCCAGTGACGCCATCAATGA	0.552												
KIF17	57576	broad.mit.edu	37	1	21042044	21042044	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:21042044G>A	uc001bdr.3	-	2	438	c.320C>T	c.(319-321)CCG>CTG	p.P107L	KIF17_uc001bds.3_Missense_Mutation_p.P107L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	107	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGGGAGGGCGGATCCGGCAG	0.657												
HSPG2	3339	broad.mit.edu	37	1	22150206	22150206	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:22150206G>A	uc001bfj.2	-	96	12946	c.12906C>T	c.(12904-12906)GGC>GGT	p.G4302G	LDLRAD2_uc001bfg.1_3'UTR|HSPG2_uc001bfi.2_Silent_p.G319G|HSPG2_uc009vqd.2_Silent_p.G4303G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4302	Laminin G-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AACCTCTGCGGCCCTCCCTGC	0.637												
HSPG2	3339	broad.mit.edu	37	1	22214000	22214000	+	Missense_Mutation	SNP	C	C	T	rs148693072	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:22214000C>T	uc001bfj.2	-	8	911	c.871G>A	c.(871-873)GCA>ACA	p.A291T	HSPG2_uc009vqd.2_Missense_Mutation_p.A291T|HSPG2_uc009vqe.1_Silent_p.P189P	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	291	LDL-receptor class A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TTGCGGCATGCGGCCTCCTGG	0.667												
EPHA8	2046	broad.mit.edu	37	1	22902954	22902954	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:22902954C>T	uc001bfx.1	+	3	529	c.404C>T	c.(403-405)GCC>GTC	p.A135V	EPHA8_uc001bfw.2_Missense_Mutation_p.A135V	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	135	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A135T(1)		central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GACCTGGGGGCCAGCACACAA	0.592												
ZDHHC18	84243	broad.mit.edu	37	1	27177668	27177668	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:27177668C>T	uc001bnb.2	+	6	977	c.882C>T	c.(880-882)GGC>GGT	p.G294G		NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	294	Helical; (Potential).					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CCATTCTGGGCCTCTCAGGGT	0.572												
SMPDL3B	27293	broad.mit.edu	37	1	28285220	28285220	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:28285220C>T	uc001bpg.2	+	8	1430	c.1239C>T	c.(1237-1239)CAC>CAT	p.H413H	SMPDL3B_uc010ofq.1_Silent_p.H207H|SMPDL3B_uc010ofr.1_Silent_p.H365H|XKR8_uc001bph.1_5'Flank	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	acid sphingomyelinase-like phosphodiesterase 3B	413					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			ovary(3)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GCATGCAGCACGTGTGTGCCA	0.627												
MATN1	4146	broad.mit.edu	37	1	31187163	31187163	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:31187163A>G	uc001brz.2	-	7	1406	c.1372T>C	c.(1372-1374)TGT>CGT	p.C458R	MATN1_uc001bsa.1_Missense_Mutation_p.C376R	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	458					protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCAGGCACACGGGTCTTCC	0.622												
BSDC1	55108	broad.mit.edu	37	1	32834083	32834083	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:32834083G>A	uc001bvh.3	-	10	1272	c.1225C>T	c.(1225-1227)CAG>TAG	p.Q409*	BSDC1_uc010ohg.1_Nonsense_Mutation_p.Q426*|BSDC1_uc010ohh.1_Nonsense_Mutation_p.Q353*|BSDC1_uc010ohi.1_Nonsense_Mutation_p.Q314*|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Nonsense_Mutation_p.Q305*|BSDC1_uc001bvi.2_Nonsense_Mutation_p.Q426*	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN	BSD domain containing 1 isoform b	409							protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGTGCCATCTGCACCTCCTCT	0.572												
S100PBP	64766	broad.mit.edu	37	1	33292032	33292032	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:33292032C>A	uc001bvz.2	+	3	609	c.332C>A	c.(331-333)CCT>CAT	p.P111H	S100PBP_uc001bwa.1_Missense_Mutation_p.P111H|S100PBP_uc001bwb.1_Missense_Mutation_p.P111H|S100PBP_uc001bwc.2_Missense_Mutation_p.P111H|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	111						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCTGAGACTCCTGACCTCTTC	0.443												
NCDN	23154	broad.mit.edu	37	1	36028847	36028847	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:36028847C>A	uc001bza.2	+	6	1557	c.1430C>A	c.(1429-1431)CCC>CAC	p.P477H	NCDN_uc001bzb.2_Missense_Mutation_p.P477H|NCDN_uc001bzc.2_Missense_Mutation_p.P460H	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	477					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGATGGGCCCCGGGAGATC	0.607												
THRAP3	9967	broad.mit.edu	37	1	36755130	36755130	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:36755130C>T	uc001cae.3	+	5	1734	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	THRAP3_uc001caf.3_Missense_Mutation_p.R504W|THRAP3_uc001cag.1_Missense_Mutation_p.R504W	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	504					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAGGAAGATCGGGGCAAGAG	0.517			T	USP6	aneurysmal bone cysts							
SF3A3	10946	broad.mit.edu	37	1	38444662	38444662	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:38444662G>A	uc001cci.2	-	10	949	c.825C>T	c.(823-825)GGC>GGT	p.G275G	SF3A3_uc010oik.1_Silent_p.G222G	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3	275					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCCTTACCCGCCACATTTCA	0.368												
MACF1	23499	broad.mit.edu	37	1	39751055	39751055	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:39751055T>C	uc010ois.1	+	14	1566	c.1361T>C	c.(1360-1362)CTG>CCG	p.L454P	MACF1_uc001cda.1_Missense_Mutation_p.L362P	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	454	LRR 4.				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)			AAGAATACACTGCAGGCTGTA	0.408												
MACF1	23499	broad.mit.edu	37	1	39758498	39758498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:39758498C>T	uc010ois.1	+	18	2195	c.1990C>T	c.(1990-1992)CAG>TAG	p.Q664*	MACF1_uc001cda.1_Nonsense_Mutation_p.Q572*	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	664					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)			GCTGGAGACACAGTATTGTAA	0.383												
MACF1	23499	broad.mit.edu	37	1	39851380	39851380	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:39851380T>C	uc010oiu.1	+	21	9574	c.9443T>C	c.(9442-9444)GTC>GCC	p.V3148A	MACF1_uc010ois.1_Missense_Mutation_p.V2646A|MACF1_uc001cda.1_Missense_Mutation_p.V2533A|MACF1_uc001cdc.1_Missense_Mutation_p.V1712A	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4713					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)			CGGCTGAGTGTCCAGTCAGCT	0.498												
HIVEP3	59269	broad.mit.edu	37	1	42049096	42049096	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:42049096C>T	uc001cgz.3	-	4	2586	c.1373G>A	c.(1372-1374)CGG>CAG	p.R458Q	HIVEP3_uc001cha.3_Missense_Mutation_p.R458Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	458	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				CACCTGCGTCCGGGGTACAGA	0.627												
CLDN19	149461	broad.mit.edu	37	1	43205659	43205659	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:43205659C>T	uc001cht.1	-	1	267	c.76G>A	c.(76-78)GCC>ACC	p.A26T	CLDN19_uc001chu.2_Missense_Mutation_p.A26T|CLDN19_uc010ojv.1_Missense_Mutation_p.A26T	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	26	Helical; (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTGGCAGGGCTGTGCTAGCA	0.637												
WDR65	149465	broad.mit.edu	37	1	43675514	43675514	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:43675514G>A	uc001cip.1	+	11	1977	c.1856G>A	c.(1855-1857)CGT>CAT	p.R619H	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.R608H|WDR65_uc001ciq.1_Missense_Mutation_p.R619H	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	619										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAACCATTCGTGCCATGAAG	0.552												
CDC20	991	broad.mit.edu	37	1	43828733	43828733	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:43828733C>T	uc001cix.2	+	11	1534	c.1433C>T	c.(1432-1434)GCG>GTG	p.A478V	CDC20_uc001ciy.2_Missense_Mutation_p.A478V	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	478	WD 7.				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGGACCCTGCGCGGCGGCGG	0.592												
KIAA0467	23334	broad.mit.edu	37	1	43913621	43913621	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:43913621A>G	uc001cjk.1	+	53	7307	c.6845A>G	c.(6844-6846)GAG>GGG	p.E2282G	KIAA0467_uc001cjl.1_Missense_Mutation_p.E270G	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3181						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGCAAGGAGAGGCTGAGCGG	0.572												
HPDL	84842	broad.mit.edu	37	1	45793679	45793679	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:45793679T>C	uc001cne.2	+	1	1135	c.859T>C	c.(859-861)TAC>CAC	p.Y287H		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	287					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CCCTGGGGCATACTACCAGCA	0.612												
IPP	3652	broad.mit.edu	37	1	46193312	46193312	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:46193312C>T	uc001cou.2	-	5	1306	c.1039G>A	c.(1039-1041)GCT>ACT	p.A347T	IPP_uc001cos.3_Missense_Mutation_p.A347T	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	347	Kelch 2.					actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CCTCCAATAGCGTAGACCATC	0.378												
MAST2	23139	broad.mit.edu	37	1	46500323	46500323	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:46500323C>T	uc001cov.2	+	29	4265	c.3982C>T	c.(3982-3984)CGC>TGC	p.R1328C	MAST2_uc001cow.2_Missense_Mutation_p.R1327C|MAST2_uc001cpa.2_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1328					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CAAGCTCCAACGCCAGTACCG	0.672												
ORC1L	4998	broad.mit.edu	37	1	52859407	52859407	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:52859407G>A	uc001ctt.2	-	6	1009	c.790C>T	c.(790-792)CGG>TGG	p.R264W	ORC1L_uc010oni.1_Missense_Mutation_p.R264W|ORC1L_uc001ctu.2_Missense_Mutation_p.R264W|ORC1L_uc009vzd.2_Missense_Mutation_p.R18W	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	264					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						GCCACTTTCCGTTTTATTCTT	0.443												
LRP8	7804	broad.mit.edu	37	1	53732282	53732282	+	Silent	SNP	G	G	A	rs139974918		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:53732282G>A	uc001cvi.1	-	9	1432	c.1290C>T	c.(1288-1290)CAC>CAT	p.H430H	LRP8_uc001cvh.1_Translation_Start_Site|LRP8_uc001cvk.1_Silent_p.H260H|LRP8_uc001cvj.1_Silent_p.H430H|LRP8_uc001cvl.1_Silent_p.H301H|LRP8_uc001cvm.1_Silent_p.H15H	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	430	Extracellular (Potential).			H -> Y (in Ref. 1; BAA09328, 2; BAA21824/ BAA21825 and 3; CAA99509).	cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						TCCGCACCTCGTGCCGGTTGG	0.552												
C1orf87	127795	broad.mit.edu	37	1	60491079	60491079	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:60491079T>C	uc001czs.1	-	8	1213	c.1121A>G	c.(1120-1122)GAA>GGA	p.E374G		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	hypothetical protein LOC127795	374							calcium ion binding			ovary(1)|breast(1)	2						TTACTTTATTTCATTTTGGTA	0.239												
NFIA	4774	broad.mit.edu	37	1	61554228	61554228	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:61554228T>C	uc001czw.2	+	2	919	c.435T>C	c.(433-435)ACT>ACC	p.T145T	NFIA_uc001czy.2_Silent_p.T137T|NFIA_uc010oos.1_Silent_p.T190T|NFIA_uc001czv.2_Silent_p.T145T	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 1	145	CTF/NF-I.				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)|skin(1)	2						TGGAAAGTACTGATGGCGAGC	0.468												
L1TD1	54596	broad.mit.edu	37	1	62676034	62676034	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:62676034C>T	uc001dae.3	+	4	1890	c.1588C>T	c.(1588-1590)CAC>TAC	p.H530Y		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	530										ovary(1)|skin(1)	2						CCAGGTGGTGCACAAAACCCA	0.473												
FOXD3	27022	broad.mit.edu	37	1	63789483	63789483	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:63789483A>G	uc001dax.2	+	1	754	c.754A>G	c.(754-756)ATG>GTG	p.M252V		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	252					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						GACGGCGCTCATGATGCAGAG	0.612												
LEPR	3953	broad.mit.edu	37	1	66085623	66085623	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:66085623C>A	uc001dci.2	+	17	2610	c.2408C>A	c.(2407-2409)CCC>CAC	p.P803H	LEPR_uc001dcg.2_Missense_Mutation_p.P803H|LEPR_uc001dch.2_Missense_Mutation_p.P803H|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.P803H|LEPR_uc001dck.2_Missense_Mutation_p.P803H	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	803	Extracellular (Potential).|Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CATTTTATCCCCATTGAGAAG	0.284												
WLS	79971	broad.mit.edu	37	1	68603590	68603590	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:68603590G>A	uc001def.1	-	11	1660	c.1389C>T	c.(1387-1389)GGC>GGT	p.G463G	uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.G461G|WLS_uc001deg.1_Silent_p.G372G|WLS_uc009wbf.1_Silent_p.G418G	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	463	Lumenal (Potential).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0						CTGTGACGCCGCCCCATTTCC	0.443												
LRRC7	57554	broad.mit.edu	37	1	70493956	70493956	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:70493956C>T	uc001dep.2	+	16	1813	c.1783C>T	c.(1783-1785)CGT>TGT	p.R595C	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	595						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CCATGGAGTGCGTGTTGAGAA	0.408												
LRRIQ3	127255	broad.mit.edu	37	1	74649222	74649222	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:74649222G>A	uc001dfy.3	-	2	339	c.147C>T	c.(145-147)TGC>TGT	p.C49C	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	49										ovary(2)	2						taagagagatgcaagactgca	0.154												
AK5	26289	broad.mit.edu	37	1	77752792	77752792	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:77752792G>A	uc001dhn.2	+	2	484	c.227G>A	c.(226-228)CGG>CAG	p.R76Q	AK5_uc001dho.2_Missense_Mutation_p.R50Q|AK5_uc001dhm.1_Missense_Mutation_p.R76Q	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	76					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1						GGACAGTCACGGAGATCCTTT	0.368												
NEXN	91624	broad.mit.edu	37	1	78383873	78383873	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:78383873C>T	uc001dic.3	+	5	659	c.362C>T	c.(361-363)ACG>ATG	p.T121M	NEXN_uc001dia.3_Missense_Mutation_p.T121M|NEXN_uc009wcb.1_Missense_Mutation_p.T57M|NEXN_uc001dib.3_Missense_Mutation_p.T57M|NEXN_uc001did.1_Missense_Mutation_p.T45M|NEXN_uc001dif.1_Missense_Mutation_p.T13M	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	121	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		AGGAAGAGAACGGAGGAGGAA	0.368												
SSX2IP	117178	broad.mit.edu	37	1	85136475	85136475	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:85136475T>C	uc001dkh.2	-	4	342	c.67A>G	c.(67-69)ACC>GCC	p.T23A	SSX2IP_uc001dkf.2_Translation_Start_Site|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Translation_Start_Site|SSX2IP_uc001dki.2_Missense_Mutation_p.T23A|SSX2IP_uc010osa.1_Translation_Start_Site|SSX2IP_uc001dkj.2_Missense_Mutation_p.T23A|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.T19A	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting	23					cell adhesion	nucleus|protein complex				ovary(2)	2				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GTTTCTGAGGTATATTGAGAG	0.313												
MCOLN2	255231	broad.mit.edu	37	1	85431290	85431290	+	Missense_Mutation	SNP	C	C	T	rs145109809		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:85431290C>T	uc001dkm.2	-	2	420	c.179G>A	c.(178-180)CGC>CAC	p.R60H	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	60						integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CGGAATCTGGCGTCTGGCTCG	0.413												
COL24A1	255631	broad.mit.edu	37	1	86249817	86249817	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:86249817G>T	uc001dlj.2	-	50	4242	c.4200C>A	c.(4198-4200)TTC>TTA	p.F1400L	COL24A1_uc001dli.2_Missense_Mutation_p.F536L|COL24A1_uc010osd.1_Missense_Mutation_p.F700L|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1400	Collagen-like 16.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGAATCCTTGGAAACCTGTCA	0.358												
CLCA4	22802	broad.mit.edu	37	1	87029383	87029383	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:87029383G>C	uc009wcs.2	+	4	532	c.488G>C	c.(487-489)GGA>GCA	p.G163A	CLCA4_uc009wct.2_Intron|CLCA4_uc009wcu.2_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	163						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)		CTCCGGTGGGGAGTGTTTGAT	0.393												
LRRC8B	23507	broad.mit.edu	37	1	90048284	90048284	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:90048284C>T	uc001dni.2	+	7	582	c.75C>T	c.(73-75)GAC>GAT	p.D25D	LRRC8B_uc001dnh.2_Silent_p.D25D|LRRC8B_uc001dnj.2_Silent_p.D25D	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	25						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CATGGTGGGACGTCTTCTGGT	0.493												
ZNF326	284695	broad.mit.edu	37	1	90473107	90473107	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:90473107G>A	uc001dnq.2	+	5	552	c.413G>A	c.(412-414)CGT>CAT	p.R138H	ZNF326_uc009wda.1_Intron|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	138	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CCTTACTCCCGTTCAAAATTG	0.502												
HFM1	164045	broad.mit.edu	37	1	91781412	91781412	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:91781412C>T	uc001doa.3	-	28	3200	c.3100G>A	c.(3100-3102)GGT>AGT	p.G1034S	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.G713S|HFM1_uc001dob.3_Missense_Mutation_p.G222S|HFM1_uc010osv.1_Missense_Mutation_p.G718S	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1034	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCTGCGTCACCTATGATTAAG	0.313												
HFM1	164045	broad.mit.edu	37	1	91843716	91843716	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:91843716G>A	uc001doa.3	-	11	1361	c.1261C>T	c.(1261-1263)CGT>TGT	p.R421C	HFM1_uc010osu.1_Missense_Mutation_p.R100C|HFM1_uc010osv.1_Missense_Mutation_p.R105C|HFM1_uc001doc.1_Missense_Mutation_p.R421C	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	421	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTGGACCACGATTTTCATCT	0.274												
BRDT	676	broad.mit.edu	37	1	92443769	92443769	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:92443769G>A	uc001dok.3	+	7	1363	c.1014G>A	c.(1012-1014)GCG>GCA	p.A338A	BRDT_uc001dol.3_Silent_p.A338A|BRDT_uc010osz.1_Silent_p.A342A|BRDT_uc009wdf.2_Silent_p.A265A|BRDT_uc010ota.1_Silent_p.A292A|BRDT_uc010otb.1_Silent_p.A292A|BRDT_uc001dom.3_Silent_p.A338A	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	338	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACAAATTTGCGGCAGATGTTA	0.333												
BTBD8	284697	broad.mit.edu	37	1	92595319	92595319	+	Silent	SNP	C	C	T	rs138139110	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:92595319C>T	uc001doo.2	+	5	1005	c.738C>T	c.(736-738)TAC>TAT	p.Y246Y	BTBD8_uc010otc.1_RNA	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	246	BTB 2.					nucleus				ovary(1)	1		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CCCAAGAGTACGTTACTCTTC	0.413												
GLMN	11146	broad.mit.edu	37	1	92712097	92712097	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:92712097C>T	uc001dor.2	-	19	1890	c.1775G>A	c.(1774-1776)GGG>GAG	p.G592E	GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.G578E	NM_053274	NP_444504	Q92990	GLMN_HUMAN	glomulin	592					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			skin(1)	1		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCACTTTATCCCAATATTTTC	0.264									Multiple_Glomus_Tumors_(of_the_Skin)_Familial			
ABCA4	24	broad.mit.edu	37	1	94495142	94495142	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:94495142C>T	uc001dqh.2	-	30	4502	c.4398G>A	c.(4396-4398)GTG>GTA	p.V1466V		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1466	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGTTTGGGGACACAGAAGGAG	0.512												
LPPR4	9890	broad.mit.edu	37	1	99764636	99764636	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:99764636T>C	uc001dse.2	+	4	690	c.584T>C	c.(583-585)ATC>ACC	p.I195T	LPPR4_uc010oue.1_Missense_Mutation_p.I195T	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	195	Helical; (Potential).						phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATTACAGATATCATACAGCTG	0.373												
AKNAD1	254268	broad.mit.edu	37	1	109369851	109369851	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:109369851C>T	uc001dwa.2	-	11	2181	c.1912G>A	c.(1912-1914)GCA>ACA	p.A638T	AKNAD1_uc010ovb.1_Missense_Mutation_p.A345T|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	638										ovary(3)	3						GAGTGTGGTGCCTTTTCATGA	0.483												
PSRC1	84722	broad.mit.edu	37	1	109823609	109823609	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:109823609G>A	uc001dxg.2	-	5	906	c.784C>T	c.(784-786)CGC>TGC	p.R262C	PSRC1_uc001dxb.2_Missense_Mutation_p.R62C|PSRC1_uc001dxc.2_Missense_Mutation_p.R232C|PSRC1_uc001dxd.2_Missense_Mutation_p.R232C|PSRC1_uc001dxe.2_Missense_Mutation_p.R232C|PSRC1_uc001dxf.2_Intron|PSRC1_uc001dxh.2_Missense_Mutation_p.R232C|PSRC1_uc001dxi.2_Missense_Mutation_p.R232C|PSRC1_uc001dxj.2_Missense_Mutation_p.R262C	NM_001032290	NP_001027461	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1 isoform c	262	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding				0		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CGGGGCAGGCGTTGAGAGTTG	0.632												
MYBPHL	343263	broad.mit.edu	37	1	109840109	109840109	+	Missense_Mutation	SNP	C	C	T	rs143926262		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:109840109C>T	uc001dxk.1	-	3	415	c.365G>A	c.(364-366)CGC>CAC	p.R122H	MYBPHL_uc010ovh.1_Intron|MYBPHL_uc001dxl.2_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	122	Ig-like C2-type 1.									ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GAGTTGGTAGCGACCTGAGTC	0.617												
ATXN7L2	127002	broad.mit.edu	37	1	110032913	110032913	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:110032913G>A	uc001dxr.2	+	9	1272	c.1257G>A	c.(1255-1257)CGG>CGA	p.R419R	ATXN7L2_uc001dxs.2_Silent_p.R46R|ATXN7L2_uc001dxt.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	419										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTGGGAGCCGGCTGGTGAGCC	0.597											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GNAI3	2773	broad.mit.edu	37	1	110129408	110129408	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:110129408A>G	uc001dxz.2	+	7	935	c.778A>G	c.(778-780)ACA>GCA	p.T260A		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	260					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		CAAATGGTTTACAGAAACTTC	0.328												
SLC6A17	388662	broad.mit.edu	37	1	110737297	110737297	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:110737297C>T	uc009wfq.2	+	9	1857	c.1396C>T	c.(1396-1398)CTT>TTT	p.L466F	SLC6A17_uc001dze.1_Missense_Mutation_p.L64F	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	466	Helical; Name=8; (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTTCTTGATGCTTATCAACCT	0.587												
KCNC4	3749	broad.mit.edu	37	1	110765858	110765858	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:110765858C>T	uc001dzh.2	+	2	1008	c.951C>T	c.(949-951)ATC>ATT	p.I317I	KCNC4_uc001dzf.2_Silent_p.I317I|KCNC4_uc009wfr.2_Silent_p.I317I|KCNC4_uc001dzg.2_Silent_p.I317I|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	317	Helical; Name=Segment S3; (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCAACATCATCGACTTTGTGG	0.627												
KCNA2	3737	broad.mit.edu	37	1	111146620	111146620	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:111146620G>A	uc001dzu.2	-	2	1281	c.785C>T	c.(784-786)GCC>GTC	p.A262V	KCNA2_uc009wfv.1_Missense_Mutation_p.A262V|KCNA2_uc009wfw.2_Missense_Mutation_p.A262V	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	262	Helical; Name=Segment S3; (Potential).					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGGGATGATGGCCACAATGTC	0.532												
IGSF3	3321	broad.mit.edu	37	1	117122210	117122210	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:117122210G>A	uc001egr.1	-	10	3843	c.3138C>T	c.(3136-3138)GGC>GGT	p.G1046G	IGSF3_uc001egq.1_Silent_p.G1066G	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	1046	Ig-like C2-type 8.|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)		CCCAAGGACTGCCCTCTGGGC	0.507												
IGSF3	3321	broad.mit.edu	37	1	117156664	117156664	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:117156664C>T	uc001egr.1	-	4	1260	c.555G>A	c.(553-555)CGG>CGA	p.R185R	IGSF3_uc001egq.1_Silent_p.R185R	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	185	Ig-like C2-type 2.|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)		CAACTTTCTGCCGGAGCCAGG	0.612												
SPAG17	200162	broad.mit.edu	37	1	118527387	118527387	+	Silent	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:118527387T>G	uc001ehk.2	-	41	5756	c.5688A>C	c.(5686-5688)ACA>ACC	p.T1896T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1896	Potential.					cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGTAATTCTGTGTTGTCTCAA	0.323												
WARS2	10352	broad.mit.edu	37	1	119575832	119575832	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:119575832A>G	uc001ehn.2	-	6	813	c.785T>C	c.(784-786)GTC>GCC	p.V262A	WARS2_uc010oxf.1_Missense_Mutation_p.V168A|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.V205A|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	262					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GTCATAGGTGACCTCCGAGGT	0.617												
NOTCH2	4853	broad.mit.edu	37	1	120462059	120462059	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:120462059C>T	uc001eik.2	-	31	5913	c.5657G>A	c.(5656-5658)CGC>CAC	p.R1886H		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1886	Cytoplasmic (Potential).|ANK 2.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGTGAGTAGCGGGCTGCAAG	0.607			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
PDE4DIP	9659	broad.mit.edu	37	1	144882530	144882530	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:144882530T>C	uc001elw.3	-	24	3780	c.3489A>G	c.(3487-3489)CAA>CAG	p.Q1163Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Silent_p.Q170Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1163					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCCCTCCTCTTGGTGTTGGT	0.522			T	PDGFRB	MPD							
BCL9	607	broad.mit.edu	37	1	147091961	147091961	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:147091961G>A	uc001epq.2	+	8	2740	c.2000G>A	c.(1999-2001)CGC>CAC	p.R667H	BCL9_uc010ozr.1_Missense_Mutation_p.R593H	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	667	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GGCTCCCAGCGCCACATGGAG	0.572			T	IGH@|IGL@	B-ALL							
NBPF15	284565	broad.mit.edu	37	1	148594462	148594462	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:148594462A>G	uc001esc.2	+	19	2324	c.1835A>G	c.(1834-1836)TAT>TGT	p.Y612C		NM_173638	NP_775909	Q8N660	NBPFF_HUMAN	hypothetical protein LOC284565	612	NBPF 6.					cytoplasm					0	all_hematologic(923;0.032)					GATAGATGTTATTCGACTCCG	0.458												
PLEKHO1	51177	broad.mit.edu	37	1	150128314	150128314	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:150128314T>C	uc001ett.2	+	3	510	c.232T>C	c.(232-234)TGT>CGT	p.C78R	PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_5'UTR|PLEKHO1_uc001etu.2_5'UTR	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	78	PH.					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTATGAGAAGTGTGAAGAGCT	0.448												
SEMA6C	10500	broad.mit.edu	37	1	151109008	151109008	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:151109008C>T	uc001ewu.2	-	12	1322	c.1022G>A	c.(1021-1023)CGT>CAT	p.R341H	SEMA6C_uc001ewv.2_Missense_Mutation_p.R341H|SEMA6C_uc001eww.2_Missense_Mutation_p.R301H|SEMA6C_uc010pcq.1_Missense_Mutation_p.R341H	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	341	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCAAACCCACGCTCAATCTC	0.562												
ZNF687	57592	broad.mit.edu	37	1	151261869	151261869	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:151261869C>T	uc001exq.2	+	5	2585	c.2487C>T	c.(2485-2487)TGC>TGT	p.C829C	ZNF687_uc009wmo.2_Silent_p.C829C|ZNF687_uc009wmp.2_Silent_p.C829C	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	829	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTACAAGTGCGCCATGTGCG	0.612												
HRNR	388697	broad.mit.edu	37	1	152192304	152192304	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:152192304C>T	uc001ezt.1	-	3	1877	c.1801G>A	c.(1801-1803)GGA>AGA	p.G601R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	601	6.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTAGATCCGTGTTGACCG	0.552												
CRNN	49860	broad.mit.edu	37	1	152382676	152382676	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:152382676G>A	uc001ezx.2	-	3	956	c.882C>T	c.(880-882)CAC>CAT	p.H294H		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	294	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTGGGTGTGTGTCCCTG	0.607												
DENND4B	9909	broad.mit.edu	37	1	153910311	153910311	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:153910311G>A	uc001fdd.1	-	14	2395	c.1994C>T	c.(1993-1995)CCG>CTG	p.P665L		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	665										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAAGGGTGTCGGCTCAGGCTT	0.552												
ADAR	103	broad.mit.edu	37	1	154574993	154574993	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:154574993T>C	uc001ffh.2	-	2	325	c.125A>G	c.(124-126)AAG>AGG	p.K42R	ADAR_uc001ffj.2_Missense_Mutation_p.K42R|ADAR_uc001ffi.2_Missense_Mutation_p.K42R|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_RNA|ADAR_uc001ffn.1_Missense_Mutation_p.K42R	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	42					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)		TTCTATTTGCTTAAGCAGGAA	0.547												
TRIM46	80128	broad.mit.edu	37	1	155152112	155152112	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:155152112T>C	uc001fhs.1	+	8	1373	c.1290T>C	c.(1288-1290)CCT>CCC	p.P430P	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Silent_p.P430P|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.P304P|TRIM46_uc001fhu.1_Silent_p.P407P|TRIM46_uc009wpg.1_Silent_p.P417P|TRIM46_uc001fhv.3_Silent_p.P417P|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	430	Fibronectin type-III.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAACAGTGCCTGAGGCCCCCG	0.642												
ARHGEF2	9181	broad.mit.edu	37	1	155920909	155920909	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:155920909G>A	uc001fmt.2	-	20	2532	c.2414C>T	c.(2413-2415)GCA>GTA	p.A805V	ARHGEF2_uc001fmq.2_Missense_Mutation_p.A43V|ARHGEF2_uc001fmr.2_Missense_Mutation_p.A777V|ARHGEF2_uc001fms.2_Missense_Mutation_p.A804V|ARHGEF2_uc001fmu.2_Missense_Mutation_p.A849V	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	805	Potential.				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)					CTGCAGTAATGCCAGTTCCGT	0.687												
MEX3A	92312	broad.mit.edu	37	1	156047125	156047125	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:156047125A>G	uc001fnd.3	-	2	803	c.803T>C	c.(802-804)TTC>TCC	p.F268S		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	268	KH 2.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					CGTGATCTCGAACACGGGGTC	0.607												
HAPLN2	60484	broad.mit.edu	37	1	156593354	156593354	+	Silent	SNP	C	C	A	rs138640704	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:156593354C>A	uc001fpn.1	+	3	479	c.72C>A	c.(70-72)GCC>GCA	p.A24A	HAPLN2_uc010phq.1_Silent_p.A24A	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	24					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCACAAAGCCCAAGGAGACC	0.622												
ARHGEF11	9826	broad.mit.edu	37	1	156917127	156917127	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:156917127G>A	uc001fqo.2	-	25	3377	c.2337C>T	c.(2335-2337)TTC>TTT	p.F779F	ARHGEF11_uc010phu.1_Silent_p.F195F|ARHGEF11_uc001fqn.2_Silent_p.F819F	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	779	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCAGGTTCGGGAAGAGCCGGG	0.587												
FCRL3	115352	broad.mit.edu	37	1	157665908	157665908	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:157665908C>T	uc001frb.2	-	7	1346	c.1054G>A	c.(1054-1056)GAT>AAT	p.D352N	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.D352N|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.D78N|FCRL3_uc001frc.1_Missense_Mutation_p.D352N	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	352	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					CTCCCTGCATCACTCTCCTTC	0.512												
KIRREL	55243	broad.mit.edu	37	1	158061243	158061243	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:158061243C>T	uc001frn.3	+	11	1772	c.1368C>T	c.(1366-1368)CTC>CTT	p.L456L	KIRREL_uc010pib.1_Silent_p.L356L|KIRREL_uc009wsq.2_Silent_p.L292L|KIRREL_uc001fro.3_Silent_p.L270L	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	456	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					TATCCACGCTCACCATCAACA	0.577												
SLAMF8	56833	broad.mit.edu	37	1	159796723	159796723	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:159796723G>T	uc001fue.3	+	1	245	c.35G>T	c.(34-36)TGG>TTG	p.W12L		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	SLAM family member 8 precursor	12						integral to membrane					0	all_hematologic(112;0.0597)					CTGCTTCTCTGGGAAGGTAAG	0.612												
SLAMF8	56833	broad.mit.edu	37	1	159799686	159799686	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:159799686A>G	uc001fue.3	+	2	281	c.71A>G	c.(70-72)CAA>CGA	p.Q24R		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	SLAM family member 8 precursor	24	Extracellular (Potential).					integral to membrane					0	all_hematologic(112;0.0597)					ACTGGTGCCCAAGTGCTGAGC	0.587												
CCDC19	25790	broad.mit.edu	37	1	159842872	159842872	+	Missense_Mutation	SNP	C	C	T	rs147644439		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:159842872C>T	uc001fui.2	-	11	1457	c.1439G>A	c.(1438-1440)CGC>CAC	p.R480H	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R395H|CCDC19_uc001ful.2_Missense_Mutation_p.R395H	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	480	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCGCACCTGGCGCCGGAGCTC	0.617												
TAGLN2	8407	broad.mit.edu	37	1	159889527	159889527	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:159889527G>A	uc001fum.1	-	2	329	c.279C>T	c.(277-279)ATC>ATT	p.I93I	CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Silent_p.I93I|TAGLN2_uc001fuo.1_Silent_p.I93I|TAGLN2_uc010piy.1_3'UTR	NM_003564	NP_003555	P37802	TAGL2_HUMAN	transgelin 2	93	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding				0	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAACTGAGAGATCTGCTCCA	0.562												
ATP1A2	477	broad.mit.edu	37	1	160091015	160091015	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:160091015C>T	uc001fvc.2	+	3	283	c.151C>T	c.(151-153)CGC>TGC	p.R51C	ATP1A2_uc001fvb.2_Missense_Mutation_p.R51C|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	51	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGAGCTGGGCCGCAAATACCA	0.453												
ATP1A2	477	broad.mit.edu	37	1	160104956	160104956	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:160104956G>A	uc001fvc.2	+	15	2118	c.1986G>A	c.(1984-1986)GTG>GTA	p.V662V	ATP1A2_uc001fvb.2_Silent_p.V662V|ATP1A2_uc001fvd.2_Silent_p.V398V	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	662	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CATGCGTGGTGCACGGCTCTG	0.602												
ADAMTS4	9507	broad.mit.edu	37	1	161163532	161163532	+	Silent	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:161163532G>T	uc001fyt.3	-	6	2061	c.1633C>A	c.(1633-1635)CGA>AGA	p.R545R		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	545	TSP type-1.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGCAGTCTCGGGAGGAGAAC	0.637												
SDHC	6391	broad.mit.edu	37	1	161298208	161298208	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:161298208G>A	uc001gag.2	+	3	130	c.100G>A	c.(100-102)GCC>ACC	p.A34T	SDHC_uc001gai.2_Missense_Mutation_p.A34T|SDHC_uc001gaj.2_Intron|SDHC_uc001gak.2_Intron|SDHC_uc001gah.2_Intron	NM_003001	NP_002992	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C	34	Mitochondrial matrix (By similarity).				respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity				0	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	GGGAACCACGGCCAAAGAAGA	0.388			Mis|N|F			paraganglioma|pheochromocytoma			Familial_Paragangliomas|Carney-Stratakis_syndrome			
OLFML2B	25903	broad.mit.edu	37	1	161969979	161969979	+	Silent	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:161969979G>T	uc001gbu.2	-	5	1297	c.873C>A	c.(871-873)TCC>TCA	p.S291S	OLFML2B_uc010pkq.1_Silent_p.S292S	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	291										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CAGTGGGCTGGGAGGCCGGCC	0.612												
DUSP27	92235	broad.mit.edu	37	1	167097443	167097443	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:167097443G>A	uc001geb.1	+	5	3075	c.3075G>A	c.(3073-3075)ACG>ACA	p.T1025T		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	1025	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						CCAGGTCCACGTACAACGAGA	0.567												
GPR161	23432	broad.mit.edu	37	1	168059836	168059836	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:168059836C>T	uc001gfc.2	-	6	1484	c.1170G>A	c.(1168-1170)ACG>ACA	p.T390T	GPR161_uc001gfb.2_Silent_p.T258T|GPR161_uc010pll.1_Silent_p.T300T|GPR161_uc010plm.1_Silent_p.T276T|GPR161_uc009wvo.2_Silent_p.T407T|GPR161_uc001gfd.2_Silent_p.T390T|GPR161_uc010pln.1_Silent_p.T410T|GPR161_uc001gfe.1_Silent_p.T390T	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	390	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					CAGTGTCCCCCGTGCTGCTGC	0.587												
TBX19	9095	broad.mit.edu	37	1	168262443	168262443	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:168262443C>T	uc001gfl.2	+	3	581	c.530C>T	c.(529-531)GCC>GTC	p.A177V	TBX19_uc001gfj.3_Missense_Mutation_p.A108V	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	177	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					GTTGGAAGTGCCCATCGAATG	0.408												
XCL1	6375	broad.mit.edu	37	1	168550351	168550351	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:168550351G>A	uc001gfo.1	+	3	258	c.238G>A	c.(238-240)GTG>ATG	p.V80M		NM_002995	NP_002986	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	80					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity				0	all_hematologic(923;0.208)					GGTGAGAGACGTGGTCAGGAG	0.473												
FMO1	2326	broad.mit.edu	37	1	171254496	171254496	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:171254496A>G	uc009wvz.2	+	9	1548	c.1412A>G	c.(1411-1413)TAC>TGC	p.Y471C	FMO1_uc010pme.1_Missense_Mutation_p.Y408C|FMO1_uc001ghl.2_Missense_Mutation_p.Y471C|FMO1_uc001ghm.2_Missense_Mutation_p.Y471C|FMO1_uc001ghn.2_3'UTR	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	471					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTCACCATACCAGTTCCGC	0.502												
C1orf9	51430	broad.mit.edu	37	1	172520731	172520731	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:172520731G>A	uc001giq.3	+	2	458	c.142G>A	c.(142-144)GCA>ACA	p.A48T	C1orf9_uc010pmm.1_Missense_Mutation_p.A48T|C1orf9_uc009wwd.2_Missense_Mutation_p.A48T|C1orf9_uc010pmn.1_Missense_Mutation_p.A48T|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	48					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		TGACAACTGCGCACTAGAAAA	0.398												
C1orf9	51430	broad.mit.edu	37	1	172558904	172558904	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:172558904A>G	uc001giq.3	+	18	2979	c.2663A>G	c.(2662-2664)TAT>TGT	p.Y888C	C1orf9_uc010pmm.1_Missense_Mutation_p.Y888C|C1orf9_uc009wwd.2_Missense_Mutation_p.Y844C|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	888					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		ACAGATTTTTATGCTGAATTG	0.363												
SERPINC1	462	broad.mit.edu	37	1	173883880	173883880	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:173883880C>T	uc001gjt.2	-	2	338	c.219G>A	c.(217-219)CCG>CCA	p.P73P		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	73			P -> L (in AT3D; type-II; Basel/ Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TGGTGGCCTCCGGGATCTTCT	0.547											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GPR52	9293	broad.mit.edu	37	1	174417662	174417662	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:174417662A>G	uc001gka.1	+	1	451	c.413A>G	c.(412-414)GAT>GGT	p.D138G	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	138	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						ATCAGTGTGGATCGTTATCTT	0.423												
TNN	63923	broad.mit.edu	37	1	175067522	175067522	+	Missense_Mutation	SNP	C	C	T	rs144603425	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:175067522C>T	uc001gkl.1	+	9	2023	c.1910C>T	c.(1909-1911)ACG>ATG	p.T637M	TNN_uc010pmx.1_Missense_Mutation_p.T548M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	637	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AATATGGCCACGGTCTCCTGG	0.557												
TNN	63923	broad.mit.edu	37	1	175096130	175096130	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:175096130C>T	uc001gkl.1	+	13	3067	c.2954C>T	c.(2953-2955)ACG>ATG	p.T985M		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	985	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCTGCTGTAACGCAGTCTGGT	0.453												
RASAL2	9462	broad.mit.edu	37	1	178421675	178421675	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:178421675G>A	uc001glr.2	+	9	1578	c.1453G>A	c.(1453-1455)GCC>ACC	p.A485T	RASAL2_uc001glq.2_Missense_Mutation_p.A633T|RASAL2_uc009wxc.2_5'UTR	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	485	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						TCTGTGTCCAGCCATTATGTC	0.488												
ABL2	27	broad.mit.edu	37	1	179078139	179078139	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:179078139G>A	uc001gmj.3	-	12	2550	c.2263C>T	c.(2263-2265)CGC>TGC	p.R755C	ABL2_uc010pnf.1_Intron|ABL2_uc010png.1_Intron|ABL2_uc010pnh.1_Missense_Mutation_p.R734C|ABL2_uc001gmg.3_Intron|ABL2_uc001gmi.3_Missense_Mutation_p.R740C|ABL2_uc001gmh.3_Missense_Mutation_p.R719C|ABL2_uc010pne.1_Intron	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	755	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGATTAAGCGTGGTGTAAAG	0.532			T	ETV6	AML							
TOR1AIP1	26092	broad.mit.edu	37	1	179887298	179887298	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:179887298G>A	uc001gnq.2	+	10	1894	c.1676G>A	c.(1675-1677)GGC>GAC	p.G559D		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	559	Lumenal (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2						AAACTGAATGGCCTCTGGAGC	0.403												
LHX4	89884	broad.mit.edu	37	1	180241138	180241138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:180241138C>T	uc001goe.1	+	5	998	c.775C>T	c.(775-777)CGA>TGA	p.R259*	uc001gof.1_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	259						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R259R(1)		ovary(1)	1						GCTGAGCTTCCGAGGTGAGCA	0.592												
STX6	10228	broad.mit.edu	37	1	180945745	180945745	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:180945745T>C	uc010pnq.1	-	8	966	c.729A>G	c.(727-729)GCA>GCG	p.A243A	STX6_uc009wxo.1_5'Flank|STX6_uc001goo.2_Silent_p.A243A|STX6_uc010pnr.1_Silent_p.A142A	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	243	Helical; Anchor for type IV membrane protein; (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						CCAACAGGACTGCAAAGAGGA	0.557												
RNASEL	6041	broad.mit.edu	37	1	182550478	182550478	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:182550478A>C	uc001gpj.1	-	4	1954	c.1787T>G	c.(1786-1788)CTT>CGT	p.L596R	RNASEL_uc009wxz.1_Missense_Mutation_p.L596R|RNASEL_uc001gpk.2_Missense_Mutation_p.L596R	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	596	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5						CACATTCCGAAGCGTCCTATA	0.413									Hereditary_Prostate_Cancer			
LAMC2	3918	broad.mit.edu	37	1	183212369	183212369	+	Missense_Mutation	SNP	G	G	A	rs144652590		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:183212369G>A	uc001gqa.2	+	23	3730	c.3416G>A	c.(3415-3417)CGG>CAG	p.R1139Q		NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	1139	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						AGCCAACTGCGGCCCATGATG	0.537												
NCF2	4688	broad.mit.edu	37	1	183538297	183538297	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:183538297C>T	uc001gqj.3	-	7	968	c.693G>A	c.(691-693)CCG>CCA	p.P231P	NCF2_uc010pod.1_Silent_p.P186P|NCF2_uc010poe.1_Silent_p.P150P|NCF2_uc001gqk.3_Silent_p.P231P	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	231					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3						CTGGGGTTTTCGGTCTGGGTG	0.473												
RGS1	5996	broad.mit.edu	37	1	192545493	192545493	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:192545493T>C	uc001gsi.1	+	2	282	c.216T>C	c.(214-216)GAT>GAC	p.D72D	RGS1_uc010pou.1_Silent_p.D72D	NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	72					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)				AGTCCAAGGATGTGTAAGTAC	0.368												
PTPRC	5788	broad.mit.edu	37	1	198711039	198711039	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:198711039G>A	uc001gur.1	+	24	2619	c.2439G>A	c.(2437-2439)CAG>CAA	p.Q813Q	PTPRC_uc001gus.1_Silent_p.Q765Q|PTPRC_uc001gut.1_Silent_p.Q652Q	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	813	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						CTCACATTCAGTTCACCAGCT	0.418												
KIF21B	23046	broad.mit.edu	37	1	200968549	200968549	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:200968549G>A	uc001gvs.1	-	13	2130	c.1813C>T	c.(1813-1815)CGC>TGC	p.R605C	KIF21B_uc001gvr.1_Missense_Mutation_p.R605C|KIF21B_uc009wzl.1_Missense_Mutation_p.R605C|KIF21B_uc010ppn.1_Missense_Mutation_p.R605C	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	605					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						TCATCCTCGCGCCCTTCCTCC	0.647												
NAV1	89796	broad.mit.edu	37	1	201750232	201750232	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:201750232C>T	uc001gwu.2	+	5	1805	c.1458C>T	c.(1456-1458)TAC>TAT	p.Y486Y	NAV1_uc001gwv.1_Translation_Start_Site|NAV1_uc001gww.1_Silent_p.Y95Y|NAV1_uc001gwx.2_Silent_p.Y95Y|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	486					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						AACTGGAGTACGACAGTGGTA	0.512												
NAV1	89796	broad.mit.edu	37	1	201779831	201779831	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:201779831G>A	uc001gwu.2	+	23	5080	c.4733G>A	c.(4732-4734)CGT>CAT	p.R1578H	NAV1_uc001gwx.2_Missense_Mutation_p.R1187H	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1581					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CGCTCTGGCCGTGAGGTCACA	0.647												
TIMM17A	10440	broad.mit.edu	37	1	201926647	201926647	+	Missense_Mutation	SNP	C	C	G	rs11555424		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:201926647C>G	uc001gxc.2	+	3	171	c.135C>G	c.(133-135)AAC>AAG	p.N45K		NM_006335	NP_006326	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17	45					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity				0						AGGGAGTAAACCACAGACTAC	0.363												
KDM5B	10765	broad.mit.edu	37	1	202710666	202710666	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:202710666T>G	uc001gyf.2	-	19	2890	c.2774A>C	c.(2773-2775)CAA>CCA	p.Q925P	KDM5B_uc009xag.2_Missense_Mutation_p.Q961P|KDM5B_uc001gyg.1_Missense_Mutation_p.Q767P	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	925					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						TAGGCAAGCTTGCTGCACCTC	0.498												
ZC3H11A	9877	broad.mit.edu	37	1	203821512	203821512	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:203821512A>G	uc001hac.2	+	20	3034	c.2418A>G	c.(2416-2418)GAA>GAG	p.E806E	ZC3H11A_uc001had.2_Silent_p.E806E|ZC3H11A_uc001hae.2_Silent_p.E806E|ZC3H11A_uc001haf.2_Silent_p.E806E|ZC3H11A_uc010pqm.1_Silent_p.E752E	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	806							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCTATCAGAAATGATTGATA	0.383												
SOX13	9580	broad.mit.edu	37	1	204091075	204091075	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:204091075A>G	uc001ham.2	+	8	1418	c.823A>G	c.(823-825)AAG>GAG	p.K275E	SOX13_uc010pqp.1_Missense_Mutation_p.K274E|SOX13_uc010pqq.1_Missense_Mutation_p.K142E	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	275	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCAGTGGTGAAGAGGCCTGG	0.642												
CR2	1380	broad.mit.edu	37	1	207644832	207644832	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:207644832C>T	uc001hfw.2	+	9	1652	c.1558C>T	c.(1558-1560)CGT>TGT	p.R520C	CR2_uc001hfv.2_Missense_Mutation_p.R520C|CR2_uc009xch.2_Missense_Mutation_p.R520C|CR2_uc009xci.1_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	520	Sushi 8.|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						TATGGAGATTCGTCTTTGTAA	0.383												
LAMB3	3914	broad.mit.edu	37	1	209797343	209797343	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:209797343C>T	uc001hhg.2	-	14	2369	c.1979G>A	c.(1978-1980)CGA>CAA	p.R660Q	LAMB3_uc009xco.2_Missense_Mutation_p.R660Q|LAMB3_uc001hhh.2_Missense_Mutation_p.R660Q|LAMB3_uc010psl.1_RNA|hsa-mir-4260|MI0015859_5'Flank	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	660	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)		CTGGAGAGTTCGCCTGAGAAG	0.532												
IRF6	3664	broad.mit.edu	37	1	209963054	209963054	+	Nonsense_Mutation	SNP	C	C	T	rs121434228		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:209963054C>T	uc001hhq.1	-	8	1400	c.1137G>A	c.(1135-1137)TGG>TGA	p.W379*	IRF6_uc010psm.1_Nonsense_Mutation_p.W284*|IRF6_uc009xct.1_Nonsense_Mutation_p.W379*	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6	379					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCCATCTGGCCATTCTTCCC	0.458										HNSCC(57;0.16)		
PPP2R5A	5525	broad.mit.edu	37	1	212532095	212532095	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:212532095G>A	uc001hjb.2	+	12	1868	c.1294G>A	c.(1294-1296)GAC>AAC	p.D432N	PPP2R5A_uc010ptd.1_Missense_Mutation_p.D373N	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	432					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)		GCTTTTCGATGACCTTACTAG	0.343												
MARK1	4139	broad.mit.edu	37	1	220835431	220835431	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:220835431C>T	uc001hmn.3	+	18	2908	c.2311C>T	c.(2311-2313)CGC>TGC	p.R771C	MARK1_uc009xdw.2_Missense_Mutation_p.R772C|MARK1_uc010pun.1_Missense_Mutation_p.R756C|MARK1_uc001hmm.3_Missense_Mutation_p.R734C	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	771	KA1.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10				GBM - Glioblastoma multiforme(131;0.0407)		TAATGGGGTTCGCTTCAAGCG	0.428												
HHIPL2	79802	broad.mit.edu	37	1	222716949	222716949	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:222716949C>A	uc001hnh.1	-	2	962	c.904G>T	c.(904-906)GAA>TAA	p.E302*		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	302					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		CGGATCTTTTCTACCTTCTTC	0.468												
FAM177B	400823	broad.mit.edu	37	1	222922880	222922880	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:222922880C>T	uc001hnt.2	+	5	581	c.315C>T	c.(313-315)AAC>AAT	p.N105N	uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	hypothetical protein LOC400823	105										ovary(1)	1						ATGTGTTAAACGAGTTCTATA	0.403												
ITPKB	3707	broad.mit.edu	37	1	226924312	226924312	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:226924312G>A	uc010pvo.1	-	2	1188	c.848C>T	c.(847-849)CCG>CTG	p.P283L	ITPKB_uc001hqh.2_Missense_Mutation_p.P283L	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	283							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				CCGAGTTCCCGGGGTAGGAGA	0.582												
GJC2	57165	broad.mit.edu	37	1	228345575	228345575	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:228345575C>T	uc001hsk.2	+	2	291	c.116C>T	c.(115-117)ACG>ATG	p.T39M		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	39	Helical; (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				ATCGTGCTGACGGCTGTGGGC	0.637												
OBSCN	84033	broad.mit.edu	37	1	228466411	228466411	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:228466411G>A	uc009xez.1	+	26	6925	c.6881G>A	c.(6880-6882)CGC>CAC	p.R2294H	OBSCN_uc001hsn.2_Missense_Mutation_p.R2294H|OBSCN_uc001hsp.1_5'UTR|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2294	Ig-like 23.				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)				ACCCTCGTGCGCCCGCTGCGG	0.662												
OBSCN	84033	broad.mit.edu	37	1	228480371	228480371	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:228480371T>C	uc009xez.1	+	40	10795	c.10751T>C	c.(10750-10752)CTG>CCG	p.L3584P	OBSCN_uc001hsn.2_Missense_Mutation_p.L3584P|OBSCN_uc001hsq.1_Missense_Mutation_p.L840P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3584	Ig-like 36.				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)				AGATACAGCCTGAGGCAGGAC	0.607												
OBSCN	84033	broad.mit.edu	37	1	228505745	228505745	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:228505745C>T	uc009xez.1	+	53	14046	c.14002C>T	c.(14002-14004)CGG>TGG	p.R4668W	OBSCN_uc001hsn.2_Missense_Mutation_p.R4668W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4668	Ig-like 47.				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)				GCCCGGTGGGCGGTTCGAGGT	0.627												
NUP133	55746	broad.mit.edu	37	1	229606455	229606455	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:229606455C>T	uc001htn.2	-	15	2040	c.1948G>A	c.(1948-1950)GCC>ACC	p.A650T		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	650					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGAACAATGGCGGCTGACAGC	0.498												
SIPA1L2	57568	broad.mit.edu	37	1	232650507	232650507	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:232650507T>C	uc001hvg.2	-	1	737	c.579A>G	c.(577-579)GGA>GGG	p.G193G		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	193					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATGAAGTACTTCCATACTCCC	0.468												
KCNK1	3775	broad.mit.edu	37	1	233802452	233802452	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:233802452T>C	uc010pxo.1	+	2	635	c.467T>C	c.(466-468)ATC>ACC	p.I156T	KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	156	Cytoplasmic (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GTCCAGCGCATCACCGTGCAC	0.602												
NID1	4811	broad.mit.edu	37	1	236189283	236189283	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:236189283G>T	uc001hxo.2	-	8	1999	c.1897C>A	c.(1897-1899)CTC>ATC	p.L633I	NID1_uc009xgd.2_Missense_Mutation_p.L633I	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	633	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCCACCGAGAGCTGCTGGGTG	0.582												
GPR137B	7107	broad.mit.edu	37	1	236371377	236371377	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:236371377A>G	uc001hxq.2	+	7	1210	c.1119A>G	c.(1117-1119)GGA>GGG	p.G373G	GPR137B_uc001hxr.1_3'UTR|GPR137B_uc009xge.2_RNA	NM_003272	NP_003263	O60478	G137B_HUMAN	G protein-coupled receptor 137B	373	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			ATGATTGGGGACAACAAACTA	0.358												
HEATR1	55127	broad.mit.edu	37	1	236719118	236719118	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:236719118G>A	uc001hyd.1	-	39	5761	c.5636C>T	c.(5635-5637)GCC>GTC	p.A1879V	HEATR1_uc009xgh.1_Missense_Mutation_p.A1041V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1879					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGAGTGCTGGGCTCGGAAGTC	0.498												
HEATR1	55127	broad.mit.edu	37	1	236721561	236721561	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:236721561G>A	uc001hyd.1	-	36	5305	c.5180C>T	c.(5179-5181)GCG>GTG	p.A1727V	HEATR1_uc009xgh.1_Missense_Mutation_p.A889V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1727					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GATGGCCAGCGCCTCCAGGGT	0.542												
ACTN2	88	broad.mit.edu	37	1	236925802	236925802	+	Silent	SNP	G	G	A	rs149554430		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:236925802G>A	uc001hyf.2	+	21	2772	c.2568G>A	c.(2566-2568)CCG>CCA	p.P856P	ACTN2_uc001hyg.2_Silent_p.P648P|ACTN2_uc009xgi.1_Silent_p.P856P|ACTN2_uc010pxu.1_Silent_p.P545P|ACTN2_uc001hyh.2_Silent_p.P544P	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	856					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGCTGCCCCCGGATCAGGCCC	0.572												
FMN2	56776	broad.mit.edu	37	1	240255930	240255930	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:240255930G>T	uc010pyd.1	+	1	746	c.521G>T	c.(520-522)AGG>ATG	p.R174M	FMN2_uc010pye.1_Missense_Mutation_p.R174M	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	174					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GATGGACAAAGGACCAGCTCG	0.617												
FMN2	56776	broad.mit.edu	37	1	240370992	240370992	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:240370992C>T	uc010pyd.1	+	5	3105	c.2880C>T	c.(2878-2880)CCC>CCT	p.P960P	FMN2_uc010pye.1_Silent_p.P964P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	960	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTTCCCGGGGCAGGCA	0.697												
CEP170	9859	broad.mit.edu	37	1	243289821	243289821	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:243289821G>A	uc001hzs.2	-	20	5093	c.4685C>T	c.(4684-4686)GCT>GTT	p.A1562V	CEP170_uc001hzt.2_Missense_Mutation_p.A1438V|CEP170_uc001hzu.2_Missense_Mutation_p.A1464V|CEP170_uc001hzr.2_Missense_Mutation_p.A151V|CEP170_uc001hzv.1_Intron	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1562	Targeting to microtubules.|Targeting to centrosomes.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ACTGAAATCAGCCTCAGATTC	0.448												
KIF26B	55083	broad.mit.edu	37	1	245849899	245849899	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:245849899G>A	uc001ibf.1	+	12	4054	c.3614G>A	c.(3613-3615)GGC>GAC	p.G1205D	KIF26B_uc001ibg.1_Missense_Mutation_p.G823D|KIF26B_uc001ibh.1_Missense_Mutation_p.G447D	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1205					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)			CTGGACAGCGGCCGCCCCACC	0.657												
TFB2M	64216	broad.mit.edu	37	1	246729434	246729434	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:246729434T>A	uc001ibn.2	-	1	132	c.7A>T	c.(7-9)ATC>TTC	p.I3F	CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	3					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			ACCACTGGGATCCACATGTCC	0.587												
CNST	163882	broad.mit.edu	37	1	246823624	246823624	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:246823624A>G	uc001ibp.2	+	10	2338	c.1960A>G	c.(1960-1962)AGC>GGC	p.S654G		NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	654					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						AATAGACGATAGCTTGGATCA	0.423												
OR6F1	343169	broad.mit.edu	37	1	247875954	247875954	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:247875954T>C	uc001idj.1	-	1	104	c.104A>G	c.(103-105)TAC>TGC	p.Y35C		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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;0.0168)			TGTGAGGATGTACATCACCAG	0.468												
WDR37	22884	broad.mit.edu	37	10	1126020	1126020	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:1126020T>C	uc001igf.1	+	4	478	c.305T>C	c.(304-306)CTG>CCG	p.L102P	WDR37_uc001ige.2_Missense_Mutation_p.L102P|WDR37_uc009xhm.1_Missense_Mutation_p.L102P|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	102											0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GGAGCAGAGCTGAGTAAGGGC	0.393												
NET1	10276	broad.mit.edu	37	10	5493800	5493800	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:5493800G>T	uc001iia.2	+	4	401	c.263G>T	c.(262-264)AGC>ATC	p.S88I	NET1_uc010qar.1_5'UTR|NET1_uc001iib.2_Missense_Mutation_p.S34I|NET1_uc010qas.1_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	88					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						TAGGAGCCAAGCAATAAAAGA	0.388												
NET1	10276	broad.mit.edu	37	10	5494448	5494448	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:5494448T>C	uc001iia.2	+	5	629	c.491T>C	c.(490-492)ATG>ACG	p.M164T	NET1_uc010qar.1_5'UTR|NET1_uc001iib.2_Missense_Mutation_p.M110T|NET1_uc010qas.1_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	164					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						GACATCACCATGAAGGAGTCT	0.532												
C10orf18	54906	broad.mit.edu	37	10	5791573	5791573	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:5791573G>A	uc001iij.2	+	15	6814	c.6189G>A	c.(6187-6189)CTG>CTA	p.L2063L	C10orf18_uc001iik.2_Silent_p.L907L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2063										ovary(1)|central_nervous_system(1)	2						CCAGCAGTCTGGACAGCTCTT	0.483												
ITIH2	3698	broad.mit.edu	37	10	7759669	7759669	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:7759669A>G	uc001ijs.2	+	6	710	c.548A>G	c.(547-549)TAC>TGC	p.Y183C		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	183	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						GAACTTCACTACCAGGAGGTG	0.512												
ITIH2	3698	broad.mit.edu	37	10	7771947	7771947	+	Missense_Mutation	SNP	G	G	A	rs147442256		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:7771947G>A	uc001ijs.2	+	12	1474	c.1312G>A	c.(1312-1314)GTT>ATT	p.V438I		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	438	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3						TCAGAAAAACGTTAAGGAGAA	0.368												
TAF3	83860	broad.mit.edu	37	10	8006390	8006390	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:8006390C>T	uc010qbd.1	+	3	917	c.917C>T	c.(916-918)TCC>TTC	p.S306F		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	306					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						AAAACTGTATCCAAAGAAAAG	0.383												
TAF3	83860	broad.mit.edu	37	10	8056685	8056685	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:8056685C>T	uc010qbd.1	+	7	2761	c.2761C>T	c.(2761-2763)CAC>TAC	p.H921Y		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	921					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1						GGACAAAAAGCACAAGAAGAG	0.587												
DHTKD1	55526	broad.mit.edu	37	10	12162823	12162823	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:12162823C>A	uc001ild.3	+	17	2795	c.2696C>A	c.(2695-2697)GCT>GAT	p.A899D		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	899					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCAGTACCCGCTGTAGGAATT	0.458												
MCM10	55388	broad.mit.edu	37	10	13240764	13240764	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:13240764A>G	uc001ima.2	+	16	2299	c.2198A>G	c.(2197-2199)AAA>AGA	p.K733R	MCM10_uc001imb.2_Missense_Mutation_p.K732R|MCM10_uc001imc.2_Missense_Mutation_p.K732R	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	733					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						GAATTTCAGAAAATCCTAAAA	0.438												
BEND7	222389	broad.mit.edu	37	10	13523008	13523008	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:13523008C>T	uc001imm.2	-	6	1095	c.798G>A	c.(796-798)GCG>GCA	p.A266A	BEND7_uc001imn.2_Silent_p.A27A|BEND7_uc001imo.3_Silent_p.A279A	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	318	BEN.						protein binding			ovary(1)|breast(1)	2						CATCAAAAAACGCACACACCA	0.433												
FAM107B	83641	broad.mit.edu	37	10	14816491	14816491	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:14816491C>T	uc001ina.1	-	1	406	c.172G>A	c.(172-174)GCC>ACC	p.A58T	FAM107B_uc010qbu.1_RNA	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	Error:Variant_position_missing_in_Q9H098_after_alignment										breast(4)	4						CCTGCTTTGGCCACAGGCTGC	0.562												
CUBN	8029	broad.mit.edu	37	10	16992003	16992003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:16992003G>A	uc001ioo.2	-	34	5129	c.5077C>T	c.(5077-5079)CGA>TGA	p.R1693*		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1693	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGTACCTCGGAGGGGCGCG	0.463												
CUBN	8029	broad.mit.edu	37	10	17026127	17026127	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:17026127G>A	uc001ioo.2	-	30	4554	c.4502C>T	c.(4501-4503)GCG>GTG	p.A1501V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1501	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCCATGACGCATTGAAGCC	0.473												
CUBN	8029	broad.mit.edu	37	10	17152969	17152969	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:17152969C>T	uc001ioo.2	-	9	1016	c.964G>A	c.(964-966)GTT>ATT	p.V322I		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	322	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACACACTCAACGGGTGGAGCC	0.512												
GPR158	57512	broad.mit.edu	37	10	25701295	25701295	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:25701295G>A	uc001isj.2	+	4	1288	c.1228G>A	c.(1228-1230)GTC>ATC	p.V410I		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	410	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						CCCATGCTTCGTCCAGGAAGA	0.498												
GPR158	57512	broad.mit.edu	37	10	25887671	25887671	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:25887671A>C	uc001isj.2	+	11	3176	c.3116A>C	c.(3115-3117)AAC>ACC	p.N1039T	GPR158_uc001isk.2_Missense_Mutation_p.N414T	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1039	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						ATGGAGAAAAACCCCACTTTT	0.453												
ACBD5	91452	broad.mit.edu	37	10	27512289	27512289	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:27512289G>A	uc010qdp.1	-	5	659	c.468C>T	c.(466-468)GGC>GGT	p.G156G	ACBD5_uc010qdm.1_Silent_p.G154G|ACBD5_uc010qdn.1_Silent_p.G47G|ACBD5_uc010qdo.1_Silent_p.G47G|ACBD5_uc001ito.2_Silent_p.G121G|ACBD5_uc001itp.2_Silent_p.G47G|ACBD5_uc001itq.2_Silent_p.G47G|ACBD5_uc001itr.1_5'UTR	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	154					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0						CAGAACTCCTGCCACTCTTTT	0.318												
MKX	283078	broad.mit.edu	37	10	28030368	28030368	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:28030368A>G	uc001ity.3	-	3	479	c.254T>C	c.(253-255)CTC>CCC	p.L85P	MKX_uc001itx.3_Missense_Mutation_p.L85P	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	85	Homeobox; TALE-type.				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCACTGCTTGAGGGGTCGCGC	0.632												
MKX	283078	broad.mit.edu	37	10	28030415	28030415	+	Silent	SNP	C	C	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:28030415C>G	uc001ity.3	-	3	432	c.207G>C	c.(205-207)GGG>GGC	p.G69G	MKX_uc001itx.3_Silent_p.G69G	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	69					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCCTCACCTTCCCGCCATTCT	0.692												
SVIL	6840	broad.mit.edu	37	10	29777554	29777554	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:29777554T>C	uc001iut.1	-	23	5077	c.4324A>G	c.(4324-4326)AGG>GGG	p.R1442G	SVIL_uc010qdw.1_Missense_Mutation_p.R356G|SVIL_uc001iuu.1_Missense_Mutation_p.R1016G|SVIL_uc009xlc.2_Missense_Mutation_p.R234G	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1442	Gelsolin-like 1.|Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				AGCATCAGCCTCTTGTAGGGC	0.547												
SVIL	6840	broad.mit.edu	37	10	29788162	29788162	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:29788162T>C	uc001iut.1	-	18	4300	c.3547A>G	c.(3547-3549)ACG>GCG	p.T1183A	SVIL_uc010qdw.1_Missense_Mutation_p.T97A|SVIL_uc001iuu.1_Missense_Mutation_p.T757A|SVIL_uc009xlc.2_5'Flank	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1183					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TCCTCAATCGTCATTTGGCTC	0.542												
KIAA1462	57608	broad.mit.edu	37	10	30336508	30336508	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:30336508G>A	uc001iux.2	-	1	293	c.234C>T	c.(232-234)GGC>GGT	p.G78G	KIAA1462_uc001iuy.2_Silent_p.G78G|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Silent_p.G78G	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	78										ovary(4)	4						GCTCCCCGTGGCCTCTCGGTG	0.612												
ZNF33A	7581	broad.mit.edu	37	10	38345312	38345312	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:38345312T>C	uc001izh.2	+	5	2435	c.2257T>C	c.(2257-2259)TGC>CGC	p.C753R	ZNF33A_uc001izg.2_Missense_Mutation_p.C754R|ZNF33A_uc010qev.1_Missense_Mutation_p.C760R|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	753	C2H2-type 16.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						ATGTAACACATGCAGGAAAAC	0.353												
AGAP4	119016	broad.mit.edu	37	10	46322015	46322015	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:46322015A>T	uc001jcx.3	-	7	1466	c.1340T>A	c.(1339-1341)ATC>AAC	p.I447N	AGAP4_uc010qfl.1_Missense_Mutation_p.I470N|AGAP4_uc001jcy.3_Missense_Mutation_p.I362N|uc010qfm.1_5'Flank	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	447	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			ovary(1)	1						CATGTTTTGGATCGACTGCAG	0.557												
RBP3	5949	broad.mit.edu	37	10	48389993	48389993	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:48389993C>T	uc001jez.2	-	1	999	c.885G>A	c.(883-885)ACG>ACA	p.T295T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	295	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	TGCCCTCCCACGTCTGGCTGC	0.692												
DKK1	22943	broad.mit.edu	37	10	54074424	54074424	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:54074424T>C	uc001jjr.2	+	1	384	c.230T>C	c.(229-231)ATT>ACT	p.I77T	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	77					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TACCAGACCATTGACAACTAC	0.627											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCDH15	65217	broad.mit.edu	37	10	55912943	55912943	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:55912943G>A	uc001jju.1	-	14	2096	c.1701C>T	c.(1699-1701)ATC>ATT	p.I567I	PCDH15_uc010qhq.1_Silent_p.I572I|PCDH15_uc010qhr.1_Silent_p.I567I|PCDH15_uc010qhs.1_Silent_p.I579I|PCDH15_uc010qht.1_Silent_p.I574I|PCDH15_uc010qhu.1_Silent_p.I567I|PCDH15_uc001jjv.1_Silent_p.I545I|PCDH15_uc010qhv.1_Silent_p.I567I|PCDH15_uc010qhw.1_Silent_p.I530I|PCDH15_uc010qhx.1_Silent_p.I567I|PCDH15_uc010qhy.1_Silent_p.I572I|PCDH15_uc010qhz.1_Silent_p.I567I|PCDH15_uc010qia.1_Silent_p.I545I|PCDH15_uc010qib.1_Silent_p.I545I|PCDH15_uc001jjw.2_Silent_p.I567I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	567	Cadherin 5.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCCTGGAGCGATGGTGATAA	0.493										HNSCC(58;0.16)		
ANK3	288	broad.mit.edu	37	10	61846456	61846456	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:61846456G>A	uc001jky.2	-	30	3919	c.3727C>T	c.(3727-3729)CGT>TGT	p.R1243C	ANK3_uc001jkw.2_Missense_Mutation_p.R377C|ANK3_uc009xpa.2_Missense_Mutation_p.R377C|ANK3_uc001jkx.2_Missense_Mutation_p.R421C|ANK3_uc010qih.1_Missense_Mutation_p.R1244C|ANK3_uc001jkz.3_Missense_Mutation_p.R1237C|ANK3_uc001jla.1_Missense_Mutation_p.R309C|ANK3_uc001jlb.1_Missense_Mutation_p.R761C	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1243					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						CAGAGAAGACGCAGATTGGGT	0.418												
EGR2	1959	broad.mit.edu	37	10	64573060	64573060	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:64573060G>A	uc010qim.1	-	3	1492	c.1338C>T	c.(1336-1338)GGC>GGT	p.G446G	EGR2_uc010qin.1_Silent_p.G396G|EGR2_uc001jmi.2_Silent_p.G446G|EGR2_uc010qio.1_Silent_p.G459G|EGR2_uc009xph.2_Silent_p.G446G	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	446					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)					CAGGCTGCACGCCCCCAGAGC	0.642												
HKDC1	80201	broad.mit.edu	37	10	71010120	71010120	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:71010120C>T	uc001jpf.3	+	11	1778	c.1645C>T	c.(1645-1647)CGG>TGG	p.R549W	HKDC1_uc010qje.1_Missense_Mutation_p.R412W	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	549					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						CAGAAGTGGACGGAGGTCAGT	0.557												
SGPL1	8879	broad.mit.edu	37	10	72633180	72633180	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:72633180G>A	uc001jrm.2	+	12	1354	c.1132G>A	c.(1132-1134)GTC>ATC	p.V378I	SGPL1_uc009xqk.2_RNA	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	378	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	TCAGTTCTTCGTCGATACAGA	0.502												
CDH23	64072	broad.mit.edu	37	10	73375330	73375330	+	Missense_Mutation	SNP	G	G	A	rs121908355		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:73375330G>A	uc001jrx.3	+	10	1279	c.902G>A	c.(901-903)CGG>CAG	p.R301Q	CDH23_uc001jrw.3_Missense_Mutation_p.R301Q|CDH23_uc009xql.2_Missense_Mutation_p.R346Q	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	301	Cadherin 3.|Extracellular (Potential).		R -> Q (in DFNB12).		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CTGCTGGACCGGGAGAACCCC	0.572												
MYOZ1	58529	broad.mit.edu	37	10	75394429	75394429	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:75394429G>T	uc001jur.2	-	4	680	c.315C>A	c.(313-315)TTC>TTA	p.F105L		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	105	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)					TGCTGTATGAGAATCCCTGAC	0.577												
DUPD1	338599	broad.mit.edu	37	10	76803726	76803726	+	Missense_Mutation	SNP	C	C	T	rs143238854	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:76803726C>T	uc001jwq.1	-	2	250	c.250G>A	c.(250-252)GTG>ATG	p.V84M		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	84	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCGTTCAGCACGTGCGTGAAC	0.706												
KCNMA1	3778	broad.mit.edu	37	10	78651358	78651358	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:78651358C>T	uc001jxn.2	-	26	3444	c.3267G>A	c.(3265-3267)CCG>CCA	p.P1089P	KCNMA1_uc001jxj.2_Silent_p.P1035P|KCNMA1_uc001jxk.1_Silent_p.P707P|KCNMA1_uc009xrt.1_Silent_p.P880P|KCNMA1_uc001jxl.1_Silent_p.P714P|KCNMA1_uc001jxo.2_Silent_p.P1072P|KCNMA1_uc001jxm.2_Silent_p.P1031P|KCNMA1_uc001jxq.2_Silent_p.P1061P|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1089	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCAGTGTCTGCGGGGTGCTGT	0.632												
KCNMA1	3778	broad.mit.edu	37	10	78844418	78844418	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:78844418C>T	uc001jxn.2	-	12	1677	c.1500G>A	c.(1498-1500)GCG>GCA	p.A500A	KCNMA1_uc001jxj.2_Silent_p.A500A|KCNMA1_uc001jxk.1_Silent_p.A115A|KCNMA1_uc009xrt.1_Silent_p.A320A|KCNMA1_uc001jxl.1_Silent_p.A154A|KCNMA1_uc001jxo.2_Silent_p.A500A|KCNMA1_uc001jxm.2_Silent_p.A500A|KCNMA1_uc001jxq.2_Silent_p.A500A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	500	RCK N-terminal.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGGCATCCTCCGCATCCGGGT	0.522												
POLR3A	11128	broad.mit.edu	37	10	79764517	79764517	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:79764517T>G	uc001jzn.2	-	16	2298	c.2204A>C	c.(2203-2205)AAG>ACG	p.K735T		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	735					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTGCTGCAGCTTGCCCGTGTT	0.592												
NRG3	10718	broad.mit.edu	37	10	83635626	83635626	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:83635626C>T	uc001kco.2	+	1	557	c.530C>T	c.(529-531)GCC>GTC	p.A177V	NRG3_uc010qlz.1_Missense_Mutation_p.A177V|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	177	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCATCCGGGCCAGCCCGCGC	0.726												
GLUD1	2746	broad.mit.edu	37	10	88854214	88854214	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:88854214T>G	uc001keh.2	-	1	410	c.313A>C	c.(313-315)ATC>CTC	p.I105L	FAM35A_uc001kei.3_5'Flank|GLUD1_uc001keg.2_5'Flank|GLUD1_uc010qmp.1_5'Flank	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	105					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATCCGCAGGATGCCGCGCACC	0.662												
PANK1	53354	broad.mit.edu	37	10	91371452	91371452	+	Splice_Site	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:91371452C>T	uc001kgp.1	-	2	1212	c.1056_splice	c.e2+1	p.M352_splice	PANK1_uc001kgn.1_Splice_Site_p.M127_splice|PANK1_uc001kgo.1_Splice_Site_p.M127_splice|PANK1_uc009xtu.1_Splice_Site_p.M154_splice	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha						coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	ACCCGACCTACCATTCTGAAG	0.428												
RPP30	10556	broad.mit.edu	37	10	92634643	92634643	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:92634643G>A	uc009xtx.2	+	2	135	c.100G>A	c.(100-102)GCT>ACT	p.A34T	RPP30_uc001khd.2_Missense_Mutation_p.A34T|RPP30_uc010qnj.1_Missense_Mutation_p.A34T	NM_006413	NP_006404	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit isoform b	34					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0						TTCAGTTGTTGCTATCAATCA	0.294												
BTAF1	9044	broad.mit.edu	37	10	93749219	93749219	+	Silent	SNP	G	G	A	rs142341012		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	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												
CYP26A1	1592	broad.mit.edu	37	10	94836985	94836985	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:94836985C>T	uc001kil.2	+	7	1463	c.1418C>T	c.(1417-1419)ACA>ATA	p.T473I	CYP26A1_uc001kik.1_Missense_Mutation_p.T404I|CYP26A1_uc001kim.1_Missense_Mutation_p.T371I	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	473					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				GGACCTCCTACAATGAAAACC	0.448												
ZDHHC16	84287	broad.mit.edu	37	10	99211969	99211969	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:99211969C>T	uc001knj.2	+	4	715	c.366C>T	c.(364-366)AGC>AGT	p.S122S	ZDHHC16_uc001knp.2_Silent_p.S122S|ZDHHC16_uc001knk.2_Silent_p.S122S|ZDHHC16_uc001knl.2_Silent_p.S122S|ZDHHC16_uc001knm.2_Intron|ZDHHC16_uc001knn.2_Silent_p.S122S|ZDHHC16_uc010qow.1_Silent_p.S122S|ZDHHC16_uc009xvq.2_RNA|ZDHHC16_uc001kno.2_Silent_p.S122S|ZDHHC16_uc009xvr.2_Silent_p.S122S	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Abl-philin 2 isoform 1	122	Helical; (Potential).				apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TCTTCTATAGCCACTGGAATC	0.562												
SLC25A28	81894	broad.mit.edu	37	10	101370949	101370949	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:101370949T>G	uc001kpx.2	-	4	881	c.752A>C	c.(751-753)GAG>GCG	p.E251A	SLC25A28_uc001kpy.2_Missense_Mutation_p.E64A	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	251	Solcar 2.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GTTAAAGTGCTCCTGCAGGAA	0.567												
ENTPD7	57089	broad.mit.edu	37	10	101455831	101455831	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:101455831G>A	uc001kqa.3	+	9	1140	c.962G>A	c.(961-963)CGG>CAG	p.R321Q	ENTPD7_uc009xwl.2_Missense_Mutation_p.R323Q	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase	321	Vesicular (Potential).					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		AACTTTGCCCGGCAGCGCTAC	0.453												
PKD2L1	9033	broad.mit.edu	37	10	102054754	102054754	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:102054754C>T	uc001kqx.1	-	8	1866	c.1483G>A	c.(1483-1485)GGC>AGC	p.G495S	PKD2L1_uc009xwm.1_Missense_Mutation_p.G448S	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	495	Helical; (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGCAGGTAGCCGAGTTGGGCA	0.562												
GBF1	8729	broad.mit.edu	37	10	104128078	104128078	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:104128078C>T	uc001kux.1	+	22	2983	c.2743C>T	c.(2743-2745)CTG>TTG	p.L915L	GBF1_uc001kuy.1_Silent_p.L915L|GBF1_uc001kuz.1_Silent_p.L916L	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	915					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGGCATATTCCTGCGTGTGCC	0.517												
SH3PXD2A	9644	broad.mit.edu	37	10	105362048	105362048	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:105362048G>A	uc001kxj.1	-	14	2983	c.2843C>T	c.(2842-2844)GCG>GTG	p.A948V	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.A783V|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.A825V|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.A783V|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.A891V	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	976					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGGCCTGACCGCCACCTGCCG	0.652												
ITPRIP	85450	broad.mit.edu	37	10	106074825	106074825	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:106074825C>T	uc001kye.2	-	2	1058	c.985G>A	c.(985-987)GAC>AAC	p.D329N	ITPRIP_uc001kyf.2_Missense_Mutation_p.D329N|ITPRIP_uc001kyg.2_Missense_Mutation_p.D329N	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	329						plasma membrane					0						CCCGGGCTGTCCAGCTGGCCA	0.567												
SORCS1	114815	broad.mit.edu	37	10	108448006	108448006	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:108448006G>A	uc001kym.2	-	10	1512	c.1504C>T	c.(1504-1506)CGT>TGT	p.R502C	SORCS1_uc001kyl.2_Missense_Mutation_p.R502C|SORCS1_uc009xxs.2_Missense_Mutation_p.R502C|SORCS1_uc001kyn.1_Missense_Mutation_p.R502C|SORCS1_uc001kyo.2_Missense_Mutation_p.R502C	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	502	Lumenal (Potential).|BNR 3.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGCAGCAAACGCCAGTCTCTG	0.498												
TCF7L2	6934	broad.mit.edu	37	10	114911564	114911564	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:114911564T>G	uc001lae.3	+	10	1589	c.1082T>G	c.(1081-1083)ATG>AGG	p.M361R	TCF7L2_uc001lac.3_Missense_Mutation_p.M338R|TCF7L2_uc010qrk.1_Missense_Mutation_p.M338R|TCF7L2_uc010qrl.1_Missense_Mutation_p.M338R|TCF7L2_uc010qrm.1_Missense_Mutation_p.M361R|TCF7L2_uc010qrn.1_Missense_Mutation_p.M304R|TCF7L2_uc001lad.3_Missense_Mutation_p.M334R|TCF7L2_uc001lag.3_Missense_Mutation_p.M385R|TCF7L2_uc001laf.3_Missense_Mutation_p.M338R|TCF7L2_uc010qro.1_Missense_Mutation_p.M338R|TCF7L2_uc001lah.2_Missense_Mutation_p.M343R|TCF7L2_uc010qrp.1_Missense_Mutation_p.M338R|TCF7L2_uc010qrq.1_Missense_Mutation_p.M334R|TCF7L2_uc010qrr.1_Missense_Mutation_p.M276R|TCF7L2_uc010qrs.1_Missense_Mutation_p.M232R|TCF7L2_uc010qrt.1_Missense_Mutation_p.M232R|TCF7L2_uc010qru.1_Missense_Mutation_p.M260R|TCF7L2_uc010qrv.1_Missense_Mutation_p.M178R|TCF7L2_uc010qrw.1_Missense_Mutation_p.M65R|TCF7L2_uc010qrx.1_Missense_Mutation_p.M218R	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	361	Mediates interaction with MAD2L2.|HMG box.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ATGTTGTATATGAAGGAAATG	0.463												
FAM160B1	57700	broad.mit.edu	37	10	116602749	116602749	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:116602749T>C	uc001lcb.2	+	6	915	c.580T>C	c.(580-582)TTA>CTA	p.L194L	FAM160B1_uc001lcc.2_Silent_p.L194L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	194										lung(1)	1						AGAAGATACATTAAAAGGTCA	0.358												
FAM160B1	57700	broad.mit.edu	37	10	116606441	116606441	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:116606441C>T	uc001lcb.2	+	11	1857	c.1522C>T	c.(1522-1524)CCA>TCA	p.P508S	FAM160B1_uc001lcc.2_Missense_Mutation_p.P508S	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	508										lung(1)	1						ACCTTTGTGCCCAGAAGATAA	0.353												
HSPA12A	259217	broad.mit.edu	37	10	118441370	118441370	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:118441370C>T	uc001lct.2	-	8	959	c.854G>A	c.(853-855)CGT>CAT	p.R285H	HSPA12A_uc001lcu.2_Missense_Mutation_p.R202H	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	285							ATP binding			ovary(1)	1				all cancers(201;0.0158)		CTGCCGATTACGCCGTATGTG	0.473											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PDZD8	118987	broad.mit.edu	37	10	119042787	119042787	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:119042787A>G	uc001lde.1	-	5	3656	c.3457T>C	c.(3457-3459)TCT>CCT	p.S1153P		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1153					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TGCTACACAGACTCGGATGGG	0.398												
PRLHR	2834	broad.mit.edu	37	10	120354444	120354444	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:120354444A>G	uc001ldp.1	-	2	452	c.313T>C	c.(313-315)TCC>CCC	p.S105P		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	105	Helical; Name=2; (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGCACGTCGGACAAGGCCAGG	0.682												
INPP5F	22876	broad.mit.edu	37	10	121586928	121586928	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:121586928C>T	uc001leo.2	+	20	3201	c.3035C>T	c.(3034-3036)TCG>TTG	p.S1012L	INPP5F_uc001lep.2_Missense_Mutation_p.S402L	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1012							phosphoric ester hydrolase activity	p.S1012S(1)		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)		TCTCGGCCATCGCAATTAGAT	0.463												
DMBT1	1755	broad.mit.edu	37	10	124331836	124331836	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:124331836C>T	uc001lgk.1	+	5	300	c.194C>T	c.(193-195)CCG>CTG	p.P65L	DMBT1_uc001lgl.1_Missense_Mutation_p.P65L|DMBT1_uc001lgm.1_Missense_Mutation_p.P65L|DMBT1_uc009xzz.1_Missense_Mutation_p.P65L|DMBT1_uc010qtx.1_Missense_Mutation_p.P65L|DMBT1_uc009yaa.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	65			P -> L.		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAGGTTCTCCGATTTCCTTG	0.522												
DOCK1	1793	broad.mit.edu	37	10	129160405	129160405	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:129160405C>T	uc001ljt.2	+	33	3362	c.3298C>T	c.(3298-3300)CGC>TGC	p.R1100C	DOCK1_uc010qun.1_Missense_Mutation_p.R1121C|DOCK1_uc009yaq.2_Missense_Mutation_p.R95C	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1100					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GACGGAGCTGCGCAAAGCCAC	0.448												
PPP2R2D	55844	broad.mit.edu	37	10	133769302	133769302	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:133769302A>C	uc001lks.2	+	7	1341	c.1098A>C	c.(1096-1098)AAA>AAC	p.K366N	PPP2R2D_uc001lkr.2_Missense_Mutation_p.K172N|PPP2R2D_uc001lkt.2_Missense_Mutation_p.K172N|PPP2R2D_uc009yay.2_Missense_Mutation_p.K234N	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	399					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CCAGCCTCAAACCCCGGAAGG	0.572												
IRF7	3665	broad.mit.edu	37	11	613969	613969	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:613969G>C	uc001lqh.2	-	7	1118	c.748C>G	c.(748-750)CCC>GCC	p.P250A	IRF7_uc009ycb.2_Missense_Mutation_p.P144A|IRF7_uc010qwf.1_Missense_Mutation_p.P249A|IRF7_uc001lqf.2_5'UTR|IRF7_uc010qwg.1_5'UTR|IRF7_uc001lqg.2_Missense_Mutation_p.P263A|IRF7_uc001lqi.2_Intron|IRF7_uc010qwh.1_5'UTR	NM_001572	NP_001563	Q92985	IRF7_HUMAN	interferon regulatory factor 7 isoform a	250					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGCCGCGGGCTGGGGCCCG	0.687												
MUC5B	727897	broad.mit.edu	37	11	1263618	1263618	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:1263618C>T	uc009ycr.1	+	47	7713	c.7587C>T	c.(7585-7587)CCC>CCT	p.P2529P	MUC5B_uc001ltb.2_Silent_p.P1839P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	1836	7 X Cys-rich subdomain repeats.|Thr-rich.|Cys-rich subdomain 3.				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)		AGAACTACCCCGAGGTAAGCA	0.587												
MUC5B	727897	broad.mit.edu	37	11	1272678	1272678	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:1272678C>T	uc009ycr.1	+	52	15660	c.15534C>T	c.(15532-15534)ACC>ACT	p.T5178T	MUC5B_uc001ltb.2_Silent_p.T4859T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4856	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				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)		CTATAGCCACCGTGATGGTGC	0.632												
NUP98	4928	broad.mit.edu	37	11	3712640	3712640	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:3712640T>G	uc001lyh.2	-	28	4682	c.4391A>C	c.(4390-4392)GAG>GCG	p.E1464A	NUP98_uc001lyi.2_Missense_Mutation_p.E1464A|NUP98_uc001lyg.2_Missense_Mutation_p.E429A	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1481					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGAGTTTTGCTCCTCCGCTAT	0.453			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
NUP98	4928	broad.mit.edu	37	11	3733808	3733808	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:3733808C>T	uc001lyh.2	-	20	3019	c.2728G>A	c.(2728-2730)GCA>ACA	p.A910T	NUP98_uc001lyi.2_Missense_Mutation_p.A910T|NUP98_uc001lyj.1_Missense_Mutation_p.A910T|NUP98_uc001lyk.1_Missense_Mutation_p.A927T	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	927					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGTGGAGGTGCAGGTTTGCCA	0.448			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
OR52K1	390036	broad.mit.edu	37	11	4510535	4510535	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:4510535G>A	uc001lza.1	+	1	405	c.405G>A	c.(403-405)ACG>ACA	p.T135T		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCACTACACGACGGTCCTGA	0.567												
HBE1	3046	broad.mit.edu	37	11	5290793	5290793	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:5290793A>G	uc001mal.1	-	2	459	c.206T>C	c.(205-207)CTG>CCG	p.L69P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.L69P	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	69					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGAAGTCAGCACCTTCTT	0.522												
OR51I2	390064	broad.mit.edu	37	11	5474944	5474944	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:5474944G>A	uc010qzf.1	+	1	226	c.226G>A	c.(226-228)GCC>ACC	p.A76T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	76	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATATCCATGGCCACACTGCC	0.502												
OR56B4	196335	broad.mit.edu	37	11	6129484	6129484	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:6129484G>A	uc010qzx.1	+	1	476	c.476G>A	c.(475-477)GGC>GAC	p.G159D		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	159	Helical; Name=4; (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)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAGGAATGGCCTGTTGACC	0.502												
OR2D2	120776	broad.mit.edu	37	11	6913632	6913632	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:6913632C>T	uc010rau.1	-	1	100	c.100G>A	c.(100-102)GTC>ATC	p.V34I		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACCAGGTAGACACCCAATAAT	0.443												
RBMXL2	27288	broad.mit.edu	37	11	7111248	7111248	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:7111248G>A	uc001mfc.2	+	1	1084	c.897G>A	c.(895-897)CCG>CCA	p.P299P		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	299	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGGGACACCGCCATCTTACG	0.662												
C11orf16	56673	broad.mit.edu	37	11	8947037	8947037	+	Missense_Mutation	SNP	C	C	T	rs143892206	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:8947037C>T	uc001mhb.3	-	5	1301	c.1177G>A	c.(1177-1179)GGG>AGG	p.G393R	C11orf16_uc001mhc.3_Missense_Mutation_p.G393R	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	hypothetical protein LOC56673	393										upper_aerodigestive_tract(1)|pancreas(1)	2				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GGCTCAGGCCCGTTTCTCTTC	0.587												
TMEM9B	56674	broad.mit.edu	37	11	8969887	8969887	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:8969887G>A	uc001mhe.1	-	5	706	c.577C>T	c.(577-579)CGG>TGG	p.R193W	TMEM9B_uc001mhf.1_Missense_Mutation_p.R119W|TMEM9B_uc010rbt.1_Missense_Mutation_p.R119W	NM_020644	NP_065695	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B precursor	193					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity				0				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		ACAACATGCCGGTCAAAGACA	0.493												
SCUBE2	57758	broad.mit.edu	37	11	9069032	9069032	+	Missense_Mutation	SNP	C	C	T	rs72550810	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:9069032C>T	uc001mhh.1	-	15	1866	c.1786G>A	c.(1786-1788)GTC>ATC	p.V596I	SCUBE2_uc001mhi.1_Missense_Mutation_p.V625I|SCUBE2_uc001mhj.1_Missense_Mutation_p.V470I	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	596						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)		TCCCTGTGGACGGCCTTTCTG	0.557												
ARNTL	406	broad.mit.edu	37	11	13393835	13393835	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:13393835G>A	uc001mkr.2	+	13	1354	c.946G>A	c.(946-948)GCA>ACA	p.A316T	ARNTL_uc001mko.2_Missense_Mutation_p.A272T|ARNTL_uc001mkp.2_Missense_Mutation_p.A315T|ARNTL_uc001mkq.2_Missense_Mutation_p.A315T|ARNTL_uc001mks.2_Missense_Mutation_p.A273T|ARNTL_uc001mkt.2_Missense_Mutation_p.A316T|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Missense_Mutation_p.A273T|ARNTL_uc001mkw.2_Missense_Mutation_p.A273T|ARNTL_uc001mkx.2_Missense_Mutation_p.A314T	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	316					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		CTGCCTCGTCGCAATTGGACG	0.498												
ABCC8	6833	broad.mit.edu	37	11	17428178	17428178	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:17428178G>A	uc001mnc.2	-	26	3446	c.3320C>T	c.(3319-3321)GCC>GTC	p.A1107V		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1107	Cytoplasmic (By similarity).|ABC transmembrane type-1 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)	CCTCATGGGGGCTAGGATGAT	0.413												
ABCC8	6833	broad.mit.edu	37	11	17491700	17491700	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:17491700G>A	uc001mnc.2	-	3	486	c.360C>T	c.(358-360)TCC>TCT	p.S120S	ABCC8_uc010rcy.1_Silent_p.S120S	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	120	Helical; Name=3; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGTAGACCACGGAGGTGACAG	0.517												
MYOD1	4654	broad.mit.edu	37	11	17741819	17741819	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:17741819C>T	uc001mni.2	+	1	710	c.490C>T	c.(490-492)CTG>TTG	p.L164L		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	164					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						GCAGGCTCTGCTGCGCGACCA	0.547												
SAA4	6291	broad.mit.edu	37	11	18253142	18253142	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:18253142C>T	uc001mny.2	-	4	396	c.300G>A	c.(298-300)GAG>GAA	p.E100E		NM_006512	NP_006503	P35542	SAA4_HUMAN	serum amyloid A4, constitutive precursor	100					acute-phase response	high-density lipoprotein particle					0						ACTTCGAGTCCTCCAATACAG	0.502												
UEVLD	55293	broad.mit.edu	37	11	18587900	18587900	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:18587900T>C	uc001mot.2	-	5	567	c.487A>G	c.(487-489)ACT>GCT	p.T163A	UEVLD_uc001mou.2_Missense_Mutation_p.T163A|UEVLD_uc010rde.1_Missense_Mutation_p.T33A|UEVLD_uc010rdf.1_Missense_Mutation_p.T141A|UEVLD_uc010rdg.1_Missense_Mutation_p.T33A|UEVLD_uc001mov.2_Missense_Mutation_p.T141A|UEVLD_uc010rdh.1_Missense_Mutation_p.T163A	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	ubiquitin-conjugating enzyme E2-like isoform a	163					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor				0						AAACCTTCAGTGATTTTTGCA	0.368												
ANO3	63982	broad.mit.edu	37	11	26556078	26556078	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:26556078C>T	uc001mqt.3	+	9	1090	c.945C>T	c.(943-945)CGC>CGT	p.R315R	ANO3_uc010rdr.1_Silent_p.R299R|ANO3_uc010rds.1_Silent_p.R154R|ANO3_uc010rdt.1_Silent_p.R169R	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	315	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGCTGGAACGCACCAAATATG	0.323												
METT5D1	196074	broad.mit.edu	37	11	28134963	28134963	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:28134963G>A	uc001msh.2	+	3	537	c.82G>A	c.(82-84)GTC>ATC	p.V28I	METT5D1_uc001msg.2_Missense_Mutation_p.V28I|METT5D1_uc001mse.2_Missense_Mutation_p.V28I|METT5D1_uc001msf.1_RNA	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	methyltransferase 5 domain containing 1 isoform	28							methyltransferase activity				0						TAATTTAGGTGTCTGGCCAAA	0.378												
TCP11L1	55346	broad.mit.edu	37	11	33087459	33087459	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:33087459C>T	uc001mud.2	+	8	1456	c.1056C>T	c.(1054-1056)GTC>GTT	p.V352V	TCP11L1_uc009yju.2_Silent_p.V167V|TCP11L1_uc010rei.1_Silent_p.V352V|TCP11L1_uc001mue.2_Silent_p.V352V|TCP11L1_uc001muf.1_RNA	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	352											0						TGTTGCTGGTCACCTTCAGCA	0.498											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HIPK3	10114	broad.mit.edu	37	11	33308232	33308232	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:33308232C>T	uc001mul.1	+	2	542	c.272C>T	c.(271-273)GCT>GTT	p.A91V	HIPK3_uc001mum.1_Missense_Mutation_p.A91V|HIPK3_uc009yjv.1_Missense_Mutation_p.A91V	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	91					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						ACTGCAGGTGCTACAAAGGTC	0.483												
HIPK3	10114	broad.mit.edu	37	11	33308858	33308858	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:33308858C>T	uc001mul.1	+	2	1168	c.898C>T	c.(898-900)CGG>TGG	p.R300W	HIPK3_uc001mum.1_Missense_Mutation_p.R300W|HIPK3_uc009yjv.1_Missense_Mutation_p.R300W	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	300	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						AAAAGTGATTCGGCCCATTCT	0.388												
CHST1	8534	broad.mit.edu	37	11	45671376	45671376	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:45671376G>A	uc001mys.1	-	4	1769	c.1098C>T	c.(1096-1098)TAC>TAT	p.Y366Y		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	366	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCACGATGTCGTAGGAGAGGC	0.657												
GYLTL1B	120071	broad.mit.edu	37	11	45949777	45949777	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:45949777C>T	uc001nbv.1	+	13	1915	c.1804C>T	c.(1804-1806)CGG>TGG	p.R602W	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R571W|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R602W|GYLTL1B_uc001nby.1_Missense_Mutation_p.R285W|GYLTL1B_uc001nbz.1_Intron	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	602	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		TGCCCGCTGGCGGGAGGCTCA	0.662												
GYLTL1B	120071	broad.mit.edu	37	11	45949840	45949840	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:45949840C>T	uc001nbv.1	+	13	1978	c.1867C>T	c.(1867-1869)CCA>TCA	p.P623S	GYLTL1B_uc001nbw.1_Missense_Mutation_p.P592S|GYLTL1B_uc001nbx.1_Missense_Mutation_p.P623S|GYLTL1B_uc001nby.1_Missense_Mutation_p.P306S|GYLTL1B_uc001nbz.1_Intron	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	623	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		CGTGGTGGTGCCACGAGACTG	0.642												
PHF21A	51317	broad.mit.edu	37	11	45967444	45967444	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:45967444T>C	uc001ncc.3	-	14	2020	c.1396A>G	c.(1396-1398)ACT>GCT	p.T466A	PHF21A_uc001ncb.3_Intron|PHF21A_uc009ykx.2_Intron|PHF21A_uc001nce.2_Missense_Mutation_p.T467A|PHF21A_uc001nca.1_Missense_Mutation_p.T202A	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	466					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						GCAGGGAAAGTGAATGTGGTC	0.502												
CKAP5	9793	broad.mit.edu	37	11	46837768	46837768	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:46837768T>G	uc001ndi.1	-	4	549	c.439A>C	c.(439-441)ACA>CCA	p.T147P	CKAP5_uc009ylg.1_Missense_Mutation_p.T33P|CKAP5_uc001ndj.1_Missense_Mutation_p.T147P	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	147					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						TTCCTCAGTGTCTCTATACAG	0.303												
MADD	8567	broad.mit.edu	37	11	47310991	47310991	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:47310991C>T	uc001ner.1	+	17	2954	c.2763C>T	c.(2761-2763)AGC>AGT	p.S921S	MADD_uc001neq.2_Silent_p.S901S|MADD_uc001nev.1_Silent_p.S858S|MADD_uc001nes.1_Silent_p.S878S|MADD_uc001net.1_Silent_p.S921S|MADD_uc009yln.1_Silent_p.S858S|MADD_uc001neu.1_Silent_p.S858S|MADD_uc001nex.2_Silent_p.S921S|MADD_uc001nez.2_Silent_p.S858S|MADD_uc001new.2_Silent_p.S901S|MADD_uc009ylo.2_5'Flank	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	921					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		TTAAACACAGCCCAACAGTGA	0.478												
AGBL2	79841	broad.mit.edu	37	11	47726206	47726206	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:47726206G>A	uc001ngg.2	-	6	575	c.475C>T	c.(475-477)CGT>TGT	p.R159C	AGBL2_uc010rhq.1_Missense_Mutation_p.R121C|AGBL2_uc001ngh.1_Missense_Mutation_p.R103C	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	159					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						TCTCGAAGACGTGGGTTTACT	0.443												
PTPRJ	5795	broad.mit.edu	37	11	48157734	48157734	+	Missense_Mutation	SNP	T	T	C	rs151134680		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:48157734T>C	uc001ngp.3	+	9	2114	c.1759T>C	c.(1759-1761)TAT>CAT	p.Y587H	PTPRJ_uc010rhr.1_Missense_Mutation_p.Y32H	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	587	Extracellular (Potential).|Fibronectin type-III 6.				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						CACAAGCACGTATGACAAAGC	0.532												
OR5D18	219438	broad.mit.edu	37	11	55587205	55587205	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:55587205G>A	uc010rin.1	+	1	100	c.100G>A	c.(100-102)GCC>ACC	p.A34T		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				GGTTTTTCTGGCCATCTACAA	0.463												
OR5T2	219464	broad.mit.edu	37	11	56000654	56000654	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:56000654T>C	uc010rjc.1	-	1	8	c.8A>G	c.(7-9)TAC>TGC	p.Y3C		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					GTATATACTGTACGACATATA	0.368												
APLNR	187	broad.mit.edu	37	11	57004240	57004240	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:57004240A>G	uc001njo.2	-	1	688	c.239T>C	c.(238-240)GTG>GCG	p.V80A	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	80	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						GGGCAGCGTCACCACGAAGGT	0.587												
TNKS1BP1	85456	broad.mit.edu	37	11	57069355	57069355	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:57069355G>A	uc001njr.2	-	8	5209	c.4897C>T	c.(4897-4899)CGG>TGG	p.R1633W	TNKS1BP1_uc001njp.2_Missense_Mutation_p.R205W|TNKS1BP1_uc001njq.2_Missense_Mutation_p.R206W|TNKS1BP1_uc001njs.2_Missense_Mutation_p.R1633W	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1633	Nuclear localization signal (Potential).|Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				ATCCGTGTCCGGCGGCTCTGA	0.572												
SSRP1	6749	broad.mit.edu	37	11	57095279	57095279	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:57095279C>A	uc001njt.2	-	14	1956	c.1689G>T	c.(1687-1689)GAG>GAT	p.E563D	TNKS1BP1_uc001njs.2_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	563	HMG box.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						ACTTGATCTTCTCTCGGCTGG	0.428												
ZDHHC5	25921	broad.mit.edu	37	11	57467412	57467412	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:57467412G>A	uc001nkx.1	+	12	3313	c.2057G>A	c.(2056-2058)GGC>GAC	p.G686D	ZDHHC5_uc001nky.1_Missense_Mutation_p.G633D|ZDHHC5_uc001nkz.1_Missense_Mutation_p.G500D	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	686						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						GCCTCCCCTGGCCCAGGCCAG	0.572												
OR10Q1	219960	broad.mit.edu	37	11	57995413	57995413	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:57995413C>T	uc010rkd.1	-	1	935	c.935G>A	c.(934-936)CGT>CAT	p.R312H		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				GGCTGCTTTACGGATAATGGC	0.498												
FAM111B	374393	broad.mit.edu	37	11	58893587	58893587	+	Nonsense_Mutation	SNP	C	C	T	rs147236932	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:58893587C>T	uc001nnl.2	+	4	2260	c.2017C>T	c.(2017-2019)CGA>TGA	p.R673*	FAM111B_uc001nnm.2_Nonsense_Mutation_p.R643*|FAM111B_uc010rko.1_Nonsense_Mutation_p.R643*	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	673							catalytic activity			ovary(2)	2						TTTTTATCAACGAGGATTTAA	0.348												
STX3	6809	broad.mit.edu	37	11	59559674	59559674	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:59559674G>A	uc001nog.2	+	6	642	c.452G>A	c.(451-453)CGG>CAG	p.R151Q	STX3_uc010rkx.1_Missense_Mutation_p.R151Q|STX3_uc010rky.1_Missense_Mutation_p.R54Q|STX3_uc009ymt.1_Missense_Mutation_p.R54Q	NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	151	Cytoplasmic (Potential).				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2						CGAATCCAGCGGCAGCTCGAA	0.527												
TCN1	6947	broad.mit.edu	37	11	59629106	59629106	+	Silent	SNP	G	G	A	rs139772818	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:59629106G>A	uc001noj.2	-	4	548	c.450C>T	c.(448-450)GAC>GAT	p.D150D		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	150					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCCAAAACGTCCAGGCTGA	0.438												
GPR44	11251	broad.mit.edu	37	11	60620738	60620738	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:60620738A>G	uc001nqc.2	-	2	570	c.458T>C	c.(457-459)CTG>CCG	p.L153P		NM_004778	NP_004769	Q9Y5Y4	GPR44_HUMAN	G protein-coupled receptor 44	153	Helical; Name=4; (Potential).				immune response	integral to plasma membrane	N-formyl peptide receptor activity			ovary(1)	1						CCAAAGCACCAGGCAGACTTT	0.642												
TMEM132A	54972	broad.mit.edu	37	11	60695270	60695270	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:60695270C>T	uc001nqj.2	+	3	666	c.473C>T	c.(472-474)CCC>CTC	p.P158L	TMEM132A_uc001nqi.2_Missense_Mutation_p.P158L|TMEM132A_uc001nqk.2_Missense_Mutation_p.P171L|TMEM132A_uc001nql.1_Missense_Mutation_p.P171L	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	158	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GGCAGCCTGCCCTGTGCCCGG	0.657												
CD5	921	broad.mit.edu	37	11	60886386	60886386	+	Splice_Site	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:60886386G>T	uc009ynk.2	+	4	504	c.401_splice	c.e4-1	p.E134_splice		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor						cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCTCATTGCAGAACCCCAGAA	0.612												
AHNAK	79026	broad.mit.edu	37	11	62297658	62297658	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:62297658C>T	uc001ntl.2	-	5	4531	c.4231G>A	c.(4231-4233)GTT>ATT	p.V1411I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1411					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GAGACATCAACGTCAGCTTTG	0.483												
ROM1	6094	broad.mit.edu	37	11	62381962	62381962	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:62381962A>G	uc001ntv.2	+	2	1364	c.823A>G	c.(823-825)ACC>GCC	p.T275A	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	retinal outer segment membrane protein 1	275	Helical; (Potential).				cell adhesion|visual perception	integral to plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GCTGGCTGTCACCTTCCTACT	0.612												
METTL12	751071	broad.mit.edu	37	11	62434242	62434242	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:62434242C>A	uc001nug.1	+	3	701	c.442C>A	c.(442-444)CTG>ATG	p.L148M	C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	methyltransferase like 12 precursor	148						mitochondrion	methyltransferase activity				0						TGCTCAGAACCTGGGGGCTGT	0.592												
HNRNPUL2	221092	broad.mit.edu	37	11	62487636	62487636	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:62487636G>A	uc001nuw.2	-	10	1832	c.1639C>T	c.(1639-1641)CGG>TGG	p.R547W	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	547					cell killing	nucleus	ATP binding|nucleic acid binding				0						AATAGCTTCCGCCGTTGGCCA	0.418												
TTC9C	283237	broad.mit.edu	37	11	62496515	62496515	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:62496515C>T	uc001nuy.2	+	1	564	c.195C>T	c.(193-195)AAC>AAT	p.N65N	HNRNPUL2_uc001nuu.1_5'Flank|HNRNPUL2_uc001nuw.2_5'Flank|TTC9C_uc001nux.2_Silent_p.N198N	NM_173810	NP_776171	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	65							binding			ovary(1)|pancreas(1)	2						AACAAGAAAACATATTGCATA	0.527												
SLC22A9	114571	broad.mit.edu	37	11	63137671	63137671	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:63137671G>A	uc001nww.2	+	1	411	c.143G>A	c.(142-144)CGC>CAC	p.R48H	SLC22A9_uc001nwx.2_RNA	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	48	Extracellular (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3						CCTGGCCATCGCTGCTGGGTC	0.478												
FLRT1	23769	broad.mit.edu	37	11	63884234	63884234	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:63884234C>T	uc001nyi.1	+	2	836	c.495C>T	c.(493-495)ACC>ACT	p.T165T	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	137	LRR 4.|Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0						CCGTGTCCACCGTCAGCATTG	0.627												
SLC22A12	116085	broad.mit.edu	37	11	64367852	64367852	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:64367852G>A	uc001oam.1	+	8	2046	c.1299G>A	c.(1297-1299)CTG>CTA	p.L433L	SLC22A12_uc001oal.1_Silent_p.L212L|SLC22A12_uc009yps.1_Silent_p.L399L|SLC22A12_uc001oan.1_Silent_p.L325L|SLC22A12_uc009ypt.2_Silent_p.L251L	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	433					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						TGGGGGCTCTGCGCTCAGCCT	0.637												
PYGM	5837	broad.mit.edu	37	11	64522768	64522768	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:64522768G>A	uc001oax.3	-	7	1649	c.832C>T	c.(832-834)CGT>TGT	p.R278C	PYGM_uc001oay.3_Missense_Mutation_p.R190C	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	278					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	TACAGGACACGAGAGATGTTC	0.607												
ATG2A	23130	broad.mit.edu	37	11	64678286	64678286	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:64678286T>C	uc001obx.2	-	11	1722	c.1607A>G	c.(1606-1608)TAC>TGC	p.Y536C		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	536							protein binding			ovary(1)|central_nervous_system(1)	2						CACCTCCGTGTACTCAGGCTC	0.672												
PPP2R5B	5526	broad.mit.edu	37	11	64695857	64695857	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:64695857C>T	uc001oby.2	+	6	1267	c.682C>T	c.(682-684)CGG>TGG	p.R228W	PPP2R5B_uc001obz.2_Missense_Mutation_p.R228W	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	228					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						CCTGGGTCTCCGGGCCTACAT	0.592												
SLC22A20	440044	broad.mit.edu	37	11	65000741	65000741	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65000741C>T	uc010roc.1	+	8	1167	c.1164C>T	c.(1162-1164)ACC>ACT	p.T388T		NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	388	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						TGGTGGCCACCGCCACCATGA	0.602												
FRMD8	83786	broad.mit.edu	37	11	65156922	65156922	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65156922G>A	uc001odu.3	+	3	368	c.176G>A	c.(175-177)CGC>CAC	p.R59H	FRMD8_uc009yqj.2_Intron|FRMD8_uc010rof.1_Missense_Mutation_p.R59H	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	59	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2						GAGCTGCACCGCGCTGTCCGC	0.642												
LTBP3	4054	broad.mit.edu	37	11	65321528	65321528	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65321528C>T	uc001oej.2	-	2	924	c.655G>A	c.(655-657)GCA>ACA	p.A219T	LTBP3_uc010roi.1_Missense_Mutation_p.A102T|LTBP3_uc001oei.2_Missense_Mutation_p.A219T|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.A130T	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	219						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GTACCTTCTGCTGAGATCTGT	0.692												
PCNXL3	399909	broad.mit.edu	37	11	65396168	65396168	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65396168G>A	uc001oey.2	+	23	3805	c.3805G>A	c.(3805-3807)GTG>ATG	p.V1269M	PCNXL3_uc001oez.2_Missense_Mutation_p.V156M	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1269						integral to membrane					0						GCCGTTTGCCGTGCCACGTAT	0.662												
GAL3ST3	89792	broad.mit.edu	37	11	65810516	65810516	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65810516C>T	uc001ogv.2	-	2	918	c.758G>A	c.(757-759)CGC>CAC	p.R253H	GAL3ST3_uc001ogw.2_Missense_Mutation_p.R253H	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	253	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						GGCCAGTAGGCGCCGCAGCAG	0.607												
GAL3ST3	89792	broad.mit.edu	37	11	65810617	65810617	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65810617G>A	uc001ogv.2	-	2	817	c.657C>T	c.(655-657)GAC>GAT	p.D219D	GAL3ST3_uc001ogw.2_Silent_p.D219D	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	219	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1						AGGCGGCGTCGTCGCGCGGGC	0.667												
ADRBK1	156	broad.mit.edu	37	11	67047323	67047323	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:67047323A>T	uc009yrn.1	+	6	721	c.455A>T	c.(454-456)GAG>GTG	p.E152V	ADRBK1_uc009yrm.1_Missense_Mutation_p.E152V	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	152	RGS.|N-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TACATCGAAGAGATTTGTCAA	0.587												
PITPNM1	9600	broad.mit.edu	37	11	67269822	67269822	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:67269822C>A	uc001olx.2	-	3	545	c.356G>T	c.(355-357)GGG>GTG	p.G119V	PITPNM1_uc001oly.2_Missense_Mutation_p.G119V|PITPNM1_uc001olz.2_Missense_Mutation_p.G119V	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	119					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						CTGCTGCCCCCCATCAGGCAG	0.607												
NUMA1	4926	broad.mit.edu	37	11	71719794	71719794	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:71719794T>C	uc001orl.1	-	20	5328	c.5156A>G	c.(5155-5157)GAC>GGC	p.D1719G	NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Missense_Mutation_p.D1268G|NUMA1_uc001ork.1_Missense_Mutation_p.D583G|NUMA1_uc001orm.1_Missense_Mutation_p.D1705G|NUMA1_uc001orn.2_Missense_Mutation_p.D1282G	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1719					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						AATACTCAAGTCCAGCTGGGG	0.567			T	RARA	APL							
NUMA1	4926	broad.mit.edu	37	11	71720329	71720329	+	Silent	SNP	C	C	T	rs143949849		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:71720329C>T	uc001orl.1	-	18	4996	c.4824G>A	c.(4822-4824)GAG>GAA	p.E1608E	NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Silent_p.E1157E|NUMA1_uc001ork.1_Silent_p.E472E|NUMA1_uc001orm.1_Silent_p.E1594E|NUMA1_uc001orn.2_Silent_p.E1171E	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1608	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GCTTATAGTGCTCAGCTGCCT	0.637			T	RARA	APL							
CLPB	81570	broad.mit.edu	37	11	72091323	72091323	+	Splice_Site	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:72091323A>G	uc001osj.2	-	4	696	c.646_splice	c.e4+1	p.D216_splice	CLPB_uc010rqx.1_Splice_Site_p.D171_splice|CLPB_uc010rqy.1_Splice_Site_p.V187_splice|CLPB_uc001osk.2_Splice_Site_p.V216_splice|CLPB_uc009ytg.2_Splice_Site|CLPB_uc010rqz.1_Splice_Site_p.V45_splice	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B						cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						GCCCACACTTACCTTCCAAAG	0.517												
CHRDL2	25884	broad.mit.edu	37	11	74415529	74415529	+	Splice_Site	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:74415529A>G	uc001ovi.2	-	7	1004	c.751_splice	c.e7+1	p.A251_splice	CHRDL2_uc001ovg.2_Splice_Site_p.A135_splice|CHRDL2_uc001ovh.2_Splice_Site_p.A251_splice|CHRDL2_uc001ovj.1_Intron|CHRDL2_uc001ovk.1_Splice_Site_p.E251_splice			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;						cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					TCCAGTCCCCACCTTTCTTAT	0.612												
CHRDL2	25884	broad.mit.edu	37	11	74417543	74417543	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:74417543G>T	uc001ovi.2	-	6	824	c.571C>A	c.(571-573)CTC>ATC	p.L191I	CHRDL2_uc001ovg.2_Missense_Mutation_p.L75I|CHRDL2_uc001ovh.2_Missense_Mutation_p.L191I|CHRDL2_uc001ovj.1_5'Flank|CHRDL2_uc001ovk.1_Missense_Mutation_p.L191I			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	191					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					ACCCCATGGAGCGACTGCACA	0.592												
UVRAG	7405	broad.mit.edu	37	11	75852178	75852178	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:75852178G>A	uc001oxc.2	+	15	2062	c.1821G>A	c.(1819-1821)GGG>GGA	p.G607G	UVRAG_uc010rrw.1_Silent_p.G506G|UVRAG_uc001oxd.2_Silent_p.G235G|UVRAG_uc010rrx.1_Silent_p.G235G|UVRAG_uc010rry.1_Silent_p.G163G	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	607					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						AGCAGGCCGGGTCCGCCAGTG	0.612												
C11orf30	56946	broad.mit.edu	37	11	76207359	76207359	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:76207359A>G	uc001oxl.2	+	9	1352	c.1209A>G	c.(1207-1209)CAA>CAG	p.Q403Q	C11orf30_uc009yuj.1_Silent_p.Q418Q|C11orf30_uc010rsa.1_Silent_p.Q353Q|C11orf30_uc001oxm.2_Intron|C11orf30_uc010rsb.1_Silent_p.Q418Q|C11orf30_uc010rsc.1_Silent_p.Q418Q|C11orf30_uc001oxn.2_Silent_p.Q404Q|C11orf30_uc010rsd.1_Silent_p.Q417Q	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	403	Interaction with BRCA2.|Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6						TCCCTAAACAACATCAACAGT	0.473												
LRRC32	2615	broad.mit.edu	37	11	76371656	76371656	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:76371656A>G	uc001oxq.3	-	3	1224	c.981T>C	c.(979-981)ATT>ATC	p.I327I	LRRC32_uc001oxr.3_Silent_p.I327I|LRRC32_uc010rsf.1_Silent_p.I327I	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	327	LRR 11.|Extracellular (Potential).					integral to plasma membrane					0						GGATGAGCTCAATCTCATTGT	0.607												
CAPN5	726	broad.mit.edu	37	11	76825332	76825332	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:76825332A>C	uc001oxx.2	+	5	736	c.551A>C	c.(550-552)GAC>GCC	p.D184A	CAPN5_uc009yup.2_Missense_Mutation_p.D224A|CAPN5_uc009yuq.2_Missense_Mutation_p.D220A|CAPN5_uc001oxy.2_Missense_Mutation_p.D224A	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	184	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						AACACAGCAGACGCACTGGTG	0.572											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PAK1	5058	broad.mit.edu	37	11	77090970	77090970	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:77090970A>G	uc001oyh.3	-	3	793	c.260T>C	c.(259-261)GTC>GCC	p.V87A	PAK1_uc010rso.1_5'UTR|PAK1_uc001oyg.3_Missense_Mutation_p.V87A|PAK1_uc001oyi.1_Missense_Mutation_p.V87A	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	87	CRIB.|GTPase-binding (By similarity).|Autoregulatory region.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)					ATCAAAACCGACATGAATTGT	0.418												
ODZ4	26011	broad.mit.edu	37	11	78412977	78412977	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:78412977G>A	uc001ozl.3	-	28	5144	c.4681C>T	c.(4681-4683)CGG>TGG	p.R1561W	ODZ4_uc009yvb.1_Missense_Mutation_p.R145W	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1561	NHL 5.|Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CGGATAAACCGAATTCGGATG	0.493												
HEPHL1	341208	broad.mit.edu	37	11	93837908	93837908	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:93837908G>C	uc001pep.2	+	16	3054	c.2897G>C	c.(2896-2898)AGA>ACA	p.R966T	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	966	Extracellular (Potential).|Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAAAGCAACAGAATGCATGGT	0.388												
MMP3	4314	broad.mit.edu	37	11	102714181	102714181	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:102714181G>A	uc001phj.1	-	1	162	c.97C>T	c.(97-99)CTT>TTT	p.L33F		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	33					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ACCTGAACAAGGTTCATGCTG	0.483												
ALKBH8	91801	broad.mit.edu	37	11	107427630	107427630	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:107427630G>A	uc010rvr.1	-	3	304	c.229C>T	c.(229-231)CCA>TCA	p.P77S	ALKBH8_uc010rvq.1_5'UTR|ALKBH8_uc009yxp.2_Missense_Mutation_p.P77S|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	77	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TTGTTAGGTGGCATTAAGAGA	0.458												
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	rs138398778		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:108117798C>T	uc001pkb.1	+	8	1394	c.1009C>T	c.(1009-1011)CGT>TGT	p.R337C	ATM_uc009yxr.1_Missense_Mutation_p.R337C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R337C(2)|p.R337S(2)|p.R337H(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCAGGATTTCGTAATATTGC	0.323			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
SIK2	23235	broad.mit.edu	37	11	111591703	111591703	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:111591703T>C	uc001plt.2	+	12	1979	c.1861T>C	c.(1861-1863)TAT>CAT	p.Y621H		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	621					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						GCAGTTGTTGTATGAACAAAT	0.512												
PPP2R1B	5519	broad.mit.edu	37	11	111597740	111597740	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:111597740A>G	uc001plw.1	-	16	2037	c.1953T>C	c.(1951-1953)CTT>CTC	p.L651L	uc001plu.1_5'Flank|PPP2R1B_uc009yye.1_RNA|PPP2R1B_uc010rwi.1_Silent_p.L587L	NM_181699	NP_859050	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	Error:Variant_position_missing_in_P30154_after_alignment							protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CCAGCTGGGCAAGTGTGTCTC	0.453												
HTR3A	3359	broad.mit.edu	37	11	113853876	113853876	+	Missense_Mutation	SNP	G	G	A	rs139646314		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:113853876G>A	uc010rxb.1	+	5	660	c.427G>A	c.(427-429)GTG>ATG	p.V143M	HTR3A_uc010rxa.1_Missense_Mutation_p.V143M|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.V122M	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	137	Extracellular (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TATCCCGTACGTGTATATTCG	0.532												
SIDT2	51092	broad.mit.edu	37	11	117054505	117054505	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:117054505T>A	uc001pqh.1	+	7	754	c.713T>A	c.(712-714)TTC>TAC	p.F238Y	SIDT2_uc010rxe.1_Missense_Mutation_p.F238Y|SIDT2_uc001pqg.2_Missense_Mutation_p.F238Y|SIDT2_uc001pqi.1_Missense_Mutation_p.F238Y	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	238	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CGCAAAGACTTCCCCAGCAAC	0.388												
RNF214	257160	broad.mit.edu	37	11	117152859	117152859	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:117152859G>A	uc001pqt.2	+	11	1630	c.1585G>A	c.(1585-1587)GCC>ACC	p.A529T	RNF214_uc001pqu.2_Missense_Mutation_p.A529T|RNF214_uc010rxf.1_Missense_Mutation_p.A374T	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	529	Pro-rich.						zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GCCCCCTGCCGCCTCCATCCC	0.627												
DSCAML1	57453	broad.mit.edu	37	11	117302319	117302319	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:117302319C>T	uc001prh.1	-	31	5487	c.5485G>A	c.(5485-5487)GTG>ATG	p.V1829M		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1769	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGAGCCCACGGTGCGCCAG	0.647												
DSCAML1	57453	broad.mit.edu	37	11	117303931	117303931	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:117303931G>A	uc001prh.1	-	29	5131	c.5129C>T	c.(5128-5130)CCC>CTC	p.P1710L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1650	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGCCCTGGGGTGGCCCTTT	0.572												
CXCR5	643	broad.mit.edu	37	11	118765107	118765107	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:118765107C>T	uc001pue.3	+	2	964	c.854C>T	c.(853-855)GCG>GTG	p.A285V	CXCR5_uc001puf.2_Missense_Mutation_p.A240V	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	285	Extracellular (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GACACCCTGGCGAGGCTGAAG	0.602												
SC5DL	6309	broad.mit.edu	37	11	121177962	121177962	+	Missense_Mutation	SNP	G	G	A	rs148689830		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:121177962G>A	uc001pxu.2	+	5	789	c.641G>A	c.(640-642)CGT>CAT	p.R214H	SC5DL_uc001pxt.2_3'UTR|SC5DL_uc001pxv.2_Missense_Mutation_p.R214H	NM_006918	NP_008849	O75845	SC5D_HUMAN	sterol-C5-desaturase	214					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)		GGTGATTTTCGTGTCCCCCAA	0.353												
OR8B8	26493	broad.mit.edu	37	11	124310573	124310573	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:124310573A>G	uc010sal.1	-	1	409	c.409T>C	c.(409-411)TCT>CCT	p.S137P		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACCTGGGGAGACATGGTGACC	0.517												
TBRG1	84897	broad.mit.edu	37	11	124496862	124496862	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:124496862T>A	uc001qak.3	+	5	892	c.654T>A	c.(652-654)AGT>AGA	p.S218R	TBRG1_uc001qaj.3_Missense_Mutation_p.S67R|TBRG1_uc001qal.3_5'UTR|TBRG1_uc001qam.3_RNA|TBRG1_uc009zbf.2_RNA|TBRG1_uc009zbg.2_Missense_Mutation_p.S67R|TBRG1_uc009zbh.2_5'UTR	NM_032811	NP_116200	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	218	FYR N-terminal.				cell cycle arrest|DNA replication|negative regulation of cell proliferation|nucleolus to nucleoplasm transport|protein stabilization	nucleus	DNA binding|protein binding				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		GCTATTGCAGTACTCGAATAT	0.493												
HEPACAM	220296	broad.mit.edu	37	11	124794736	124794736	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:124794736G>A	uc001qbk.2	-	2	721	c.315C>T	c.(313-315)GGC>GGT	p.G105G	HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Silent_p.G105G	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	hepatocyte cell adhesion molecule precursor	105	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				pancreas(1)	1	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GAAGCAGGGAGCCATTTTCAA	0.587												
STT3A	3703	broad.mit.edu	37	11	125484229	125484229	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:125484229C>A	uc001qcd.2	+	15	1792	c.1682C>A	c.(1681-1683)TCC>TAC	p.S561Y	STT3A_uc001qce.2_Missense_Mutation_p.S561Y|STT3A_uc010sbg.1_Missense_Mutation_p.S469Y|STT3A_uc009zbn.2_Missense_Mutation_p.S283Y	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	561	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GCAATGGCGTCCACAGAGGAA	0.448												
FOXRED1	55572	broad.mit.edu	37	11	126147409	126147409	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:126147409T>C	uc001qdi.2	+	11	1333	c.1286T>C	c.(1285-1287)GTC>GCC	p.V429A	FOXRED1_uc010sbn.1_Missense_Mutation_p.V259A|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.V242A|FOXRED1_uc010sbq.1_Missense_Mutation_p.V296A|FOXRED1_uc001qdj.2_Missense_Mutation_p.V218A|FOXRED1_uc010sbr.1_Missense_Mutation_p.V415A|FOXRED1_uc001qdk.2_Missense_Mutation_p.V218A	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	429						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CCGCTAGTTGTCAACATGTAC	0.587												
ARHGAP32	9743	broad.mit.edu	37	11	128842466	128842466	+	Missense_Mutation	SNP	C	C	T	rs148138101	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:128842466C>T	uc009zcp.2	-	21	3893	c.3893G>A	c.(3892-3894)CGC>CAC	p.R1298H	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.R257H|ARHGAP32_uc001qez.2_Missense_Mutation_p.R949H	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1298					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TCTGTGCGTGCGCTGAAGTGT	0.557												
ARHGAP32	9743	broad.mit.edu	37	11	128846512	128846512	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:128846512T>C	uc009zcp.2	-	19	2098	c.2098A>G	c.(2098-2100)ACC>GCC	p.T700A	ARHGAP32_uc009zcq.1_Missense_Mutation_p.T660A|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Missense_Mutation_p.T351A	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	700					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						GAACGGAGGGTTCCTTCTGCC	0.363												
ARHGAP32	9743	broad.mit.edu	37	11	128851443	128851443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:128851443C>A	uc009zcp.2	-	16	1606	c.1606G>T	c.(1606-1608)GAA>TAA	p.E536*	ARHGAP32_uc009zcq.1_Nonsense_Mutation_p.E496*|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Nonsense_Mutation_p.E187*	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	536	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						CAGGCAGATTCTATCTGTTTT	0.423												
ST14	6768	broad.mit.edu	37	11	130060404	130060404	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:130060404G>A	uc001qfw.2	+	7	883	c.690G>A	c.(688-690)ACG>ACA	p.T230T	ST14_uc010sca.1_Silent_p.T40T	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	230	Extracellular (Potential).|CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCTTCACCACGCCCGGCTTCC	0.692												
IGSF9B	22997	broad.mit.edu	37	11	133791085	133791085	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:133791085C>T	uc001qgx.3	-	18	2766	c.2535G>A	c.(2533-2535)ACG>ACA	p.T845T		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	845	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTCGATGGGCGTGGTGGCCT	0.642												
IGSF9B	22997	broad.mit.edu	37	11	133794769	133794769	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:133794769C>T	uc001qgx.3	-	15	2296	c.2065G>A	c.(2065-2067)GTC>ATC	p.V689I	IGSF9B_uc001qgy.1_Missense_Mutation_p.V531I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	689	Fibronectin type-III 2.|Extracellular (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCCTGCATGACGGCCAGAACC	0.577												
JAM3	83700	broad.mit.edu	37	11	134014848	134014848	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:134014848C>T	uc001qhb.1	+	5	730	c.706C>T	c.(706-708)CGC>TGC	p.R236C	JAM3_uc009zcz.1_Missense_Mutation_p.R185C	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3 precursor	191	Extracellular (Potential).|Ig-like C2-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCCCAGATTTCGCAATTCTTC	0.502												
NCAPD3	23310	broad.mit.edu	37	11	134022911	134022911	+	Silent	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:134022911G>T	uc001qhd.1	-	35	5031	c.4425C>A	c.(4423-4425)CCC>CCA	p.P1475P	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Missense_Mutation_p.P426Q	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1475					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TATTCCTGGCGGGAGACCGCA	0.562												
GLB1L2	89944	broad.mit.edu	37	11	134212847	134212847	+	Splice_Site	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:134212847T>C	uc001qhp.2	+	2	472	c.284_splice	c.e2+2	p.T95_splice		NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCTCACCACGTAGGTGCTGCC	0.607												
KDM5A	5927	broad.mit.edu	37	12	416792	416792	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:416792G>A	uc001qif.1	-	23	4121	c.3758C>T	c.(3757-3759)GCT>GTT	p.A1253V	KDM5A_uc001qie.1_Missense_Mutation_p.A1253V	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1253					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						CCAACTCATAGCACGTTCTGT	0.542			T 	NUP98	AML							
KDM5A	5927	broad.mit.edu	37	12	443551	443551	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:443551G>A	uc001qif.1	-	11	1709	c.1346C>T	c.(1345-1347)CCT>CTT	p.P449L	KDM5A_uc001qie.1_Missense_Mutation_p.P449L|KDM5A_uc010sdn.1_Missense_Mutation_p.P408L|KDM5A_uc010sdo.1_Missense_Mutation_p.P68L	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	449	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						TTCCAGGACAGGCATGTTATT	0.388			T 	NUP98	AML							
RAD52	5893	broad.mit.edu	37	12	1025516	1025516	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:1025516T>C	uc001qis.1	-	9	973	c.859A>G	c.(859-861)AGT>GGT	p.S287G	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.S210G|RAD52_uc001qiu.1_Missense_Mutation_p.S287G|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_3'UTR	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	287					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TCACCCTCACTCTTCTCAGCT	0.433								Homologous_recombination				
CACNA1C	775	broad.mit.edu	37	12	2705039	2705039	+	Splice_Site	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:2705039G>T	uc009zdu.1	+	20	2977	c.2664_splice	c.e20-1	p.R888_splice	CACNA1C_uc009zdv.1_Splice_Site_p.R885_splice|CACNA1C_uc001qkb.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkc.2_Splice_Site_p.R888_splice|CACNA1C_uc001qke.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkf.2_Splice_Site_p.R888_splice|CACNA1C_uc001qjz.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkd.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkg.2_Splice_Site_p.R888_splice|CACNA1C_uc009zdw.1_Splice_Site_p.R888_splice|CACNA1C_uc001qkh.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkl.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkn.2_Splice_Site_p.R888_splice|CACNA1C_uc001qko.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkp.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkr.2_Splice_Site_p.R888_splice|CACNA1C_uc001qku.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkq.2_Splice_Site_p.R888_splice|CACNA1C_uc001qks.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkt.2_Splice_Site_p.R888_splice|CACNA1C_uc001qka.1_Splice_Site_p.R423_splice|CACNA1C_uc001qki.1_Splice_Site_p.R624_splice|CACNA1C_uc001qkj.1_Splice_Site_p.R624_splice|CACNA1C_uc001qkk.1_Splice_Site_p.R624_splice|CACNA1C_uc001qkm.1_Splice_Site_p.R624_splice|CACNA1C_uc001qkw.2_Splice_Site_p.R177_splice	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,						axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTCCCGTACAGGTTTCGCCTC	0.577												
VWF	7450	broad.mit.edu	37	12	6128544	6128544	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:6128544A>G	uc001qnn.1	-	28	4290	c.4040T>C	c.(4039-4041)GTG>GCG	p.V1347A	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1347	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CGCATACTTCACCTGGCTGGC	0.627												
GPR162	27239	broad.mit.edu	37	12	6934773	6934773	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:6934773G>A	uc001qqw.1	+	3	1527	c.992G>A	c.(991-993)CGC>CAC	p.R331H	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.R47H|GPR162_uc009zfd.1_Missense_Mutation_p.R27H|GPR162_uc001qqy.1_Missense_Mutation_p.R27H	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	331	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GAGCGCTACCGCGCCGACGTG	0.647											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GPR162	27239	broad.mit.edu	37	12	6935968	6935968	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:6935968C>A	uc001qqw.1	+	5	1901	c.1366C>A	c.(1366-1368)CTG>ATG	p.L456M	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.L172M|GPR162_uc009zfd.1_Missense_Mutation_p.L152M|GPR162_uc001qqy.1_Intron	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	456	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCCTGAGTACCTGGGACAAAG	0.637												
SLC2A14	144195	broad.mit.edu	37	12	7984225	7984225	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:7984225C>T	uc001qtk.2	-	9	1109	c.316G>A	c.(316-318)GGA>AGA	p.G106R	SLC2A14_uc001qtl.2_Missense_Mutation_p.G83R|SLC2A14_uc001qtm.2_Missense_Mutation_p.G83R|SLC2A14_uc010sgg.1_Intron|SLC2A14_uc001qtn.2_Missense_Mutation_p.G106R|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Missense_Mutation_p.G121R	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	106	Helical; Name=2; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		ACAAAGAGTCCGACGGAAAAG	0.537											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM90A1	55138	broad.mit.edu	37	12	8374755	8374755	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:8374755G>A	uc001qui.2	-	7	1617	c.1058C>T	c.(1057-1059)CCC>CTC	p.P353L	FAM90A1_uc001quh.2_Missense_Mutation_p.P353L	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	353							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		CACCTGGGCGGGTGTCCTCGT	0.672												
GSG1	83445	broad.mit.edu	37	12	13238096	13238096	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:13238096G>T	uc001rbn.2	-	7	1001	c.828C>A	c.(826-828)TTC>TTA	p.F276L	GSG1_uc001rbj.2_Missense_Mutation_p.F240L|GSG1_uc001rbk.2_Missense_Mutation_p.Q282K|GSG1_uc001rbl.2_Missense_Mutation_p.F212L|GSG1_uc001rbm.2_Missense_Mutation_p.F189L|GSG1_uc001rbo.2_Missense_Mutation_p.Q318K|GSG1_uc001rbp.2_Missense_Mutation_p.F253L|GSG1_uc001rbq.1_Missense_Mutation_p.Q318K	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN	germ cell associated 1 isoform 4	263						endoplasmic reticulum membrane|integral to membrane					0		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCTTGCACTTGAACTCCAGCA	0.557												
PDE3A	5139	broad.mit.edu	37	12	20766556	20766556	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:20766556C>T	uc001reh.1	+	3	1213	c.1191C>T	c.(1189-1191)CCC>CCT	p.P397P		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	397					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GAGTGAATCCCGTCACTTCGC	0.488												
SLCO1A2	6579	broad.mit.edu	37	12	21448696	21448696	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:21448696C>T	uc001rer.2	-	9	1357	c.1106G>A	c.(1105-1107)GGA>GAA	p.G369E	SLCO1A2_uc001res.2_Missense_Mutation_p.G369E|SLCO1A2_uc010siq.1_Missense_Mutation_p.G237E|SLCO1A2_uc010sio.1_Missense_Mutation_p.G237E|SLCO1A2_uc010sip.1_Missense_Mutation_p.G237E|SLCO1A2_uc001ret.2_Missense_Mutation_p.G367E|SLCO1A2_uc001reu.2_Missense_Mutation_p.G349E	NM_021094	NP_066580	P46721	SO1A2_HUMAN	organic anion transporting polypeptide A	369	Helical; Name=8; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						AATTATATATCCAATACATAT	0.284												
GYS2	2998	broad.mit.edu	37	12	21693395	21693395	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:21693395C>T	uc001rfb.2	-	14	2013	c.1758G>A	c.(1756-1758)AGG>AGA	p.R586R		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	586					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						CAGTTCTGTTCCTCTGGATAA	0.438												
ST8SIA1	6489	broad.mit.edu	37	12	22354586	22354586	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:22354586A>G	uc001rfo.3	-	5	1453	c.971T>C	c.(970-972)ATG>ACG	p.M324T	ST8SIA1_uc009zix.2_Missense_Mutation_p.M181T	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	324	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						TTCCTCGGGCATGGCATGGAA	0.502												
ITPR2	3709	broad.mit.edu	37	12	26572040	26572040	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:26572040G>A	uc001rhg.2	-	50	7469	c.7052C>T	c.(7051-7053)GCG>GTG	p.A2351V	ITPR2_uc009zjg.1_Missense_Mutation_p.A502V	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2351	Extracellular (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					CAGGACATACGCCACGTGATA	0.448												
FGFR1OP2	26127	broad.mit.edu	37	12	27113500	27113500	+	Missense_Mutation	SNP	G	G	A	rs144332739	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:27113500G>A	uc001rhm.2	+	5	791	c.449G>A	c.(448-450)CGA>CAA	p.R150Q	FGFR1OP2_uc001rhl.2_Missense_Mutation_p.R150Q|FGFR1OP2_uc001rhn.2_Intron	NM_015633	NP_056448	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	150						cytoplasm					0	Colorectal(261;0.0847)					GATGCATCTCGACACATCCTT	0.403												
DDX11	1663	broad.mit.edu	37	12	31254802	31254802	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:31254802C>T	uc001rjt.1	+	21	2339	c.2088C>T	c.(2086-2088)TGC>TGT	p.C696C	DDX11_uc001rjr.1_Silent_p.C696C|DDX11_uc001rjs.1_Intron|DDX11_uc001rju.1_Silent_p.C368C|DDX11_uc001rjv.1_Silent_p.C696C|DDX11_uc001rjw.1_Silent_p.C670C|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	696					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GTAACCTGTGCGGTGTGGTTC	0.627										Multiple Myeloma(12;0.14)		
C12orf35	55196	broad.mit.edu	37	12	32138395	32138395	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:32138395G>A	uc001rks.2	+	4	4920	c.4506G>A	c.(4504-4506)GTG>GTA	p.V1502V	C12orf35_uc001rkt.2_5'Flank	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	1502										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			GCAGCGGCGTGCAGACCTCTA	0.408												
FGD4	121512	broad.mit.edu	37	12	32777363	32777363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:32777363C>T	uc001rkz.2	+	12	1996	c.1519C>T	c.(1519-1521)CAA>TAA	p.Q507*	FGD4_uc001rlc.2_Nonsense_Mutation_p.Q592*|FGD4_uc001rky.2_Nonsense_Mutation_p.Q259*|FGD4_uc001rla.2_Nonsense_Mutation_p.Q163*|FGD4_uc010ske.1_Nonsense_Mutation_p.Q619*|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	507	PH 1.				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|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TAGTTCTGCGCAAGACAAAGA	0.224												
ADAMTS20	80070	broad.mit.edu	37	12	43837660	43837660	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:43837660C>T	uc010skx.1	-	16	2224	c.2224G>A	c.(2224-2226)GCA>ACA	p.A742T		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	742	Spacer.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTGCTCCTGCGGGAATCTTT	0.383												
TMEM117	84216	broad.mit.edu	37	12	44782314	44782314	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:44782314C>T	uc001rod.2	+	8	1470	c.1404C>T	c.(1402-1404)TGC>TGT	p.C468C	TMEM117_uc001roe.2_Silent_p.C364C|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	468						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CTTTGGTTTGCATCAGGTCTG	0.443												
ARID2	196528	broad.mit.edu	37	12	46211569	46211569	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:46211569G>A	uc001ros.1	+	5	535	c.535G>A	c.(535-537)GTA>ATA	p.V179I	ARID2_uc001ror.2_Missense_Mutation_p.V179I	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	179					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCTATTAACGTATGCACTCT	0.388												
SFRS2IP	9169	broad.mit.edu	37	12	46322307	46322307	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:46322307A>G	uc001rox.2	-	11	1464	c.1177T>C	c.(1177-1179)TCT>CCT	p.S393P	SFRS2IP_uc001row.2_Missense_Mutation_p.S78P|SFRS2IP_uc001roy.1_Missense_Mutation_p.S467P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	393					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		GCAGCTACAGAGCTCCGAAGT	0.423												
PFKM	5213	broad.mit.edu	37	12	48501948	48501948	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:48501948C>T	uc001rrb.1	+	3	400	c.176C>T	c.(175-177)ACC>ATC	p.T59I	SENP1_uc001rqw.2_5'Flank|SENP1_uc001rqx.2_5'Flank|SENP1_uc001rqy.2_5'Flank|SENP1_uc001rqz.2_5'Flank|SENP1_uc009zkx.2_5'Flank|PFKM_uc001rra.1_5'UTR	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	Error:Variant_position_missing_in_P08237_after_alignment					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						GATCCAGACACCGTGGGAAGC	0.438												
ZNF641	121274	broad.mit.edu	37	12	48737327	48737327	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:48737327G>C	uc001rrn.1	-	6	911	c.746C>G	c.(745-747)TCA>TGA	p.S249*	ZNF641_uc001rro.1_Nonsense_Mutation_p.S235*|ZNF641_uc010sls.1_Nonsense_Mutation_p.S226*	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	249	Transactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						CAGCAGGTTTGAGAAACTATC	0.542												
DDX23	9416	broad.mit.edu	37	12	49225894	49225894	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:49225894G>A	uc001rsm.2	-	15	2122	c.2031C>T	c.(2029-2031)TGC>TGT	p.C677C		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	677	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						CCAACACGTCGCAGCCCTTCT	0.517												
MLL2	8085	broad.mit.edu	37	12	49434444	49434444	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:49434444C>T	uc001rta.3	-	31	7109	c.7109G>A	c.(7108-7110)CGC>CAC	p.R2370H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2370	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						GGAGCCAGGGCGAAAGATGTC	0.657			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
TROAP	10024	broad.mit.edu	37	12	49722991	49722991	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:49722991G>A	uc001rtx.3	+	10	1235	c.1068G>A	c.(1066-1068)CGG>CGA	p.R356R	TROAP_uc009zlh.2_Silent_p.R356R|TROAP_uc001rty.2_Silent_p.R64R	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	356					cell adhesion	cytoplasm				ovary(1)	1						CTAAAACCCGGTTCACACCCA	0.547												
KCNH3	23416	broad.mit.edu	37	12	49937067	49937067	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:49937067G>A	uc001ruh.1	+	5	849	c.589G>A	c.(589-591)GGG>AGG	p.G197R	KCNH3_uc010smj.1_Missense_Mutation_p.G137R	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	197	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						GGGGGTGTTTGGGGAGAAACC	0.567												
AQP6	363	broad.mit.edu	37	12	50369362	50369362	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:50369362G>A	uc001rvr.1	+	4	1094	c.757G>A	c.(757-759)GTA>ATA	p.V253I	AQP6_uc001rvp.1_Missense_Mutation_p.V79I|AQP6_uc001rvq.1_RNA	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	253	Cytoplasmic (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0						CACAGGCACCGTAGAGGTGGG	0.647												
LARP4	113251	broad.mit.edu	37	12	50794705	50794705	+	Translation_Start_Site	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:50794705G>A	uc001rwp.1	+	1	56	c.-88G>A	c.(-90--86)GTGTG>GTATG		LARP4_uc001rwo.1_Translation_Start_Site|LARP4_uc001rwq.1_Translation_Start_Site|LARP4_uc001rwr.1_Translation_Start_Site|LARP4_uc001rws.1_Translation_Start_Site|LARP4_uc001rwm.2_Translation_Start_Site|LARP4_uc001rwn.2_Translation_Start_Site	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a								nucleotide binding|RNA binding			ovary(1)	1						CAAGGCGAGTGTGTGTCCTTA	0.647												
SLC4A8	9498	broad.mit.edu	37	12	51844755	51844755	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:51844755C>T	uc001rys.1	+	3	404	c.226C>T	c.(226-228)CGG>TGG	p.R76W	SLC4A8_uc010sni.1_Missense_Mutation_p.R23W|SLC4A8_uc001rym.2_Missense_Mutation_p.R23W|SLC4A8_uc001ryn.2_Missense_Mutation_p.R23W|SLC4A8_uc001ryo.2_Missense_Mutation_p.R23W|SLC4A8_uc001ryp.1_Missense_Mutation_p.R23W|SLC4A8_uc010snj.1_Missense_Mutation_p.R103W|SLC4A8_uc001ryq.3_Missense_Mutation_p.R76W|SLC4A8_uc001ryr.2_Missense_Mutation_p.R76W|SLC4A8_uc010snk.1_Missense_Mutation_p.R23W	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	76	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAGACGAGGGCGGGGCAAAGG	0.662												
KRT2	3849	broad.mit.edu	37	12	53044214	53044214	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:53044214T>C	uc001sat.2	-	2	742	c.709A>G	c.(709-711)AAG>GAG	p.K237E		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	237	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGATATCTCTTGAGGCTGTCG	0.483												
KRT8	3856	broad.mit.edu	37	12	53295004	53295004	+	Splice_Site	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:53295004C>A	uc001sbd.2	-	3	637	c.534_splice	c.e3-1	p.K178_splice	KRT8_uc009zmj.2_Splice_Site_p.K178_splice|KRT8_uc009zmk.1_Splice_Site_p.K206_splice|KRT8_uc009zml.1_Splice_Site_p.K178_splice|KRT8_uc009zmm.1_Splice_Site_p.K178_splice	NM_002273	NP_002264	P05787	K2C8_HUMAN	keratin 8						cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCCTCATACCTGTGAGGAAA	0.463												
SP7	121340	broad.mit.edu	37	12	53722463	53722463	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:53722463C>T	uc001sct.2	-	2	870	c.763G>A	c.(763-765)GGG>AGG	p.G255R	SP7_uc001scu.2_Missense_Mutation_p.G237R|SP7_uc001scv.2_Missense_Mutation_p.G255R	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCACTACCCCCAGTGCTTGCA	0.622												
SP1	6667	broad.mit.edu	37	12	53776718	53776718	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:53776718T>C	uc001scw.2	+	3	1084	c.987T>C	c.(985-987)ACT>ACC	p.T329T	SP1_uc010sog.1_Silent_p.T322T	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	329	Transactivation domain B (Gln-rich).|Ser/Thr-rich.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCTACTCAACTACTACTACCA	0.502												
LRP1	4035	broad.mit.edu	37	12	57537482	57537482	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57537482C>T	uc001snd.2	+	4	815	c.349C>T	c.(349-351)CGC>TGC	p.R117C	LRP1_uc010sre.1_Missense_Mutation_p.R117C|LRP1_uc001snb.2_Missense_Mutation_p.R117C|LRP1_uc001snc.1_Missense_Mutation_p.R117C	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	117	EGF-like 1.|Extracellular (Potential).				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)	CAACTGCTCTCGCCTGGGCTG	0.602												
LRP1	4035	broad.mit.edu	37	12	57577935	57577935	+	Silent	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57577935C>A	uc001snd.2	+	37	6463	c.5997C>A	c.(5995-5997)CGC>CGA	p.R1999R		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1999	LDL-receptor class B 18.|Extracellular (Potential).				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)	GCTCCTTCCGCTACGTGGTGA	0.597												
LRP1	4035	broad.mit.edu	37	12	57602495	57602495	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57602495A>G	uc001snd.2	+	78	12506	c.12040A>G	c.(12040-12042)ACC>GCC	p.T4014A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	4014	LDL-receptor class B 33.|Extracellular (Potential).				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)	CCTCCCCAGGACCATGTACTG	0.637												
AGAP2	116986	broad.mit.edu	37	12	58124646	58124646	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:58124646C>T	uc001spq.2	-	11	2236	c.2236G>A	c.(2236-2238)GCC>ACC	p.A746T	AGAP2_uc001spp.2_Missense_Mutation_p.A746T|AGAP2_uc001spr.2_Missense_Mutation_p.A410T	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	746	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						GGGCCAAAGGCAGAGATGGCC	0.577												
FAM119B	25895	broad.mit.edu	37	12	58174183	58174183	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:58174183C>T	uc001sqg.2	+	3	560	c.435C>T	c.(433-435)GAC>GAT	p.D145D	FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	145						integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAAACTATGACCTGGTGCTGG	0.612												
MON2	23041	broad.mit.edu	37	12	62943525	62943525	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:62943525G>A	uc001sre.2	+	23	3222	c.2831G>A	c.(2830-2832)TGC>TAC	p.C944Y	MON2_uc009zqj.2_Missense_Mutation_p.C944Y|MON2_uc010ssl.1_Missense_Mutation_p.C872Y|MON2_uc010ssm.1_Missense_Mutation_p.C921Y|MON2_uc010ssn.1_Missense_Mutation_p.C944Y|MON2_uc001srf.2_Missense_Mutation_p.C707Y	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	945					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)		CCTTGTACTTGCCTGCAAATA	0.368												
PPM1H	57460	broad.mit.edu	37	12	63195794	63195794	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:63195794G>A	uc001srk.3	-	3	707	c.558C>T	c.(556-558)GTC>GTT	p.V186V		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	protein phosphatase 1H (PP2C domain containing)	186	PP2C-like.						phosphoprotein phosphatase activity			lung(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TAGGGGGCAGGACGGCGGAGT	0.721												
GNS	2799	broad.mit.edu	37	12	65113872	65113872	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:65113872T>C	uc001ssg.3	-	13	1680	c.1510A>G	c.(1510-1512)AAC>GAC	p.N504D	GNS_uc001ssf.2_Missense_Mutation_p.N448D|GNS_uc010ssq.1_Missense_Mutation_p.N536D|GNS_uc010ssr.1_Missense_Mutation_p.N484D	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	504						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		AACCGATAGTTCATCTTTCCT	0.448												
CAND1	55832	broad.mit.edu	37	12	67692780	67692780	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:67692780T>C	uc001stn.2	+	7	1342	c.905T>C	c.(904-906)CTT>CCT	p.L302P	CAND1_uc001sto.2_5'UTR	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	302	HEAT 8.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AATATTTGTCTTAAATATCTT	0.219												
TSPAN8	7103	broad.mit.edu	37	12	71531789	71531789	+	Missense_Mutation	SNP	C	C	T	rs148575105		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:71531789C>T	uc009zrt.1	-	5	550	c.388G>A	c.(388-390)GCC>ACC	p.A130T	TSPAN8_uc001swk.1_Missense_Mutation_p.A130T|TSPAN8_uc001swj.1_Missense_Mutation_p.A130T	NM_004616	NP_004607	P19075	TSN8_HUMAN	transmembrane 4 superfamily member 3	130	Extracellular (Potential).				protein glycosylation	integral to membrane|lysosome	signal transducer activity			skin(2)|lung(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCCCCTGTGGCGCTCAAAAGC	0.343												
TMTC2	160335	broad.mit.edu	37	12	83379735	83379735	+	Silent	SNP	C	C	T	rs148211417		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:83379735C>T	uc001szt.2	+	8	2412	c.1980C>T	c.(1978-1980)CCC>CCT	p.P660P	TMTC2_uc001szs.1_Silent_p.P660P|TMTC2_uc010suk.1_Silent_p.P415P	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	660	TPR 6.					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2						GCAAACTCCCCGAAGCAGAGC	0.433												
PLXNC1	10154	broad.mit.edu	37	12	94562942	94562942	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:94562942A>G	uc001tdc.2	+	2	1325	c.1076A>G	c.(1075-1077)CAA>CGA	p.Q359R		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	359	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GAAGGGGATCAACCTGAAAGA	0.383												
APAF1	317	broad.mit.edu	37	12	99126270	99126270	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:99126270G>A	uc001tfz.2	+	27	4250	c.3673G>A	c.(3673-3675)GTG>ATG	p.V1225M	APAF1_uc001tfy.2_Missense_Mutation_p.V1214M|APAF1_uc001tga.2_Missense_Mutation_p.V1171M|APAF1_uc001tgb.2_Missense_Mutation_p.V1182M|APAF1_uc001tgc.2_3'UTR|APAF1_uc009zto.2_Missense_Mutation_p.V549M	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	1225					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	GAAAATACACGTGTCCCCTGA	0.333												
UTP20	27340	broad.mit.edu	37	12	101736764	101736764	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:101736764G>A	uc001tia.1	+	35	4498	c.4342G>A	c.(4342-4344)GTT>ATT	p.V1448I		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1448					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						CAACTTCGACGTTCGCTTTGA	0.328												
SPIC	121599	broad.mit.edu	37	12	101880330	101880330	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:101880330C>T	uc001tid.2	+	6	687	c.528C>T	c.(526-528)TAC>TAT	p.Y176Y	SPIC_uc009zua.2_Silent_p.Y51Y|SPIC_uc010svp.1_Silent_p.Y175Y	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	176	ETS.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TCAGAAATTACGGAAGAAGTG	0.448												
STAB2	55576	broad.mit.edu	37	12	104044321	104044321	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:104044321C>A	uc001tjw.2	+	11	1408	c.1222C>A	c.(1222-1224)CTG>ATG	p.L408M		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	408	Extracellular (Potential).|FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CTTCACGGTGCTGTTACCTAC	0.443												
STAB2	55576	broad.mit.edu	37	12	104071360	104071360	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:104071360G>A	uc001tjw.2	+	25	2962	c.2776G>A	c.(2776-2778)GCA>ACA	p.A926T		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	926	Extracellular (Potential).|EGF-like 9.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CCACGACAACGCATCCTGTTT	0.572												
NUAK1	9891	broad.mit.edu	37	12	106532257	106532257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:106532257C>A	uc001tlj.1	-	1	1555	c.175G>T	c.(175-177)GAG>TAG	p.E59*		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	59	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CCCAGGGTCTCCTGCAGCTCG	0.672												
C12orf34	84915	broad.mit.edu	37	12	110206229	110206229	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:110206229G>A	uc001tpd.1	+	3	1054	c.495G>A	c.(493-495)GCG>GCA	p.A165A	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Silent_p.A165A	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	165	Pro-rich.									ovary(1)	1						CACCTGAGGCGCCTGCTCCAC	0.731												
TCHP	84260	broad.mit.edu	37	12	110340853	110340853	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:110340853T>C	uc001tpn.2	+	2	175	c.22T>C	c.(22-24)TCC>CCC	p.S8P	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.S8P	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	8					apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						GACGCTGCCGTCCTACTGGTG	0.602												
GIT2	9815	broad.mit.edu	37	12	110421431	110421431	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:110421431T>G	uc001tps.2	-	5	639	c.474A>C	c.(472-474)CAA>CAC	p.Q158H	GIT2_uc001tpq.2_Missense_Mutation_p.Q158H|GIT2_uc001tpv.2_Missense_Mutation_p.Q158H|GIT2_uc001tpu.2_Missense_Mutation_p.Q158H|GIT2_uc001tpt.2_Missense_Mutation_p.Q158H|GIT2_uc010sxu.1_Missense_Mutation_p.Q96H|GIT2_uc001tpw.2_Missense_Mutation_p.Q158H|GIT2_uc010sxv.1_Missense_Mutation_p.Q158H	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	158	ANK 1.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1						AGAAGTTGGCTTGTGCTCCTA	0.383												
ATP2A2	488	broad.mit.edu	37	12	110783139	110783139	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:110783139T>C	uc001tqk.3	+	18	3256	c.2693T>C	c.(2692-2694)ATG>ACG	p.M898T	ATP2A2_uc001tql.3_Missense_Mutation_p.M898T|ATP2A2_uc010sxy.1_Missense_Mutation_p.M871T|ATP2A2_uc001tqn.3_5'Flank|ATP2A2_uc009zvn.2_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	898	Helical; Name=8; (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						CCGATGACAATGGCGCTCTCT	0.498												
ACAD10	80724	broad.mit.edu	37	12	112185167	112185167	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:112185167C>T	uc001tsq.2	+	16	2663	c.2463C>T	c.(2461-2463)AAC>AAT	p.N821N	ACAD10_uc001tsp.2_Silent_p.N821N|ACAD10_uc009zvx.2_Silent_p.N852N|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	821							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						ATGTCATAAACGGTCACAAAT	0.502												
ERP29	10961	broad.mit.edu	37	12	112460088	112460088	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:112460088G>A	uc001ttk.1	+	3	536	c.418G>A	c.(418-420)GCC>ACC	p.A140T	ERP29_uc001ttl.1_3'UTR	NM_006817	NP_006808	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29 isoform 1	140					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity				0						TAAGGTTGGAGCCATCCAGCG	0.577												
LHX5	64211	broad.mit.edu	37	12	113906172	113906172	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:113906172G>A	uc001tvj.1	-	3	1009	c.435C>T	c.(433-435)CTC>CTT	p.L145L		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GTGCGTCCTGGAGGTCCGGGG	0.642												
MED13L	23389	broad.mit.edu	37	12	116408482	116408482	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:116408482T>C	uc001tvw.2	-	27	6039	c.5984A>G	c.(5983-5985)CAC>CGC	p.H1995R		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1995					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CACCAAGATGTGTGTACAAGA	0.478												
TESC	54997	broad.mit.edu	37	12	117494684	117494684	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:117494684T>C	uc001twh.2	-	3	300	c.295A>G	c.(295-297)AAC>GAC	p.N99D	TESC_uc001twi.2_RNA	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	tescalcin	46					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding				0	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		TTGTTGAAGTTCTCCTTGCTG	0.493												
NOS1	4842	broad.mit.edu	37	12	117672429	117672429	+	Missense_Mutation	SNP	G	G	A	rs56266548		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:117672429G>A	uc001twm.1	-	21	3862	c.3176C>T	c.(3175-3177)GCG>GTG	p.A1059V		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1059	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GACAGGCGGCGCGTCCTCCAG	0.627												
WSB2	55884	broad.mit.edu	37	12	118474213	118474213	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:118474213C>T	uc001twr.2	-	6	861	c.763G>A	c.(763-765)GTC>ATC	p.V255I	WSB2_uc010sza.1_Missense_Mutation_p.V30I|WSB2_uc010szb.1_Missense_Mutation_p.V45I|WSB2_uc009zws.1_Missense_Mutation_p.V255I	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	255	WD 4.				intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAGCCGTGACAAGCAGGGCA	0.502												
KDM2B	84678	broad.mit.edu	37	12	121951203	121951203	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:121951203C>T	uc001uat.2	-	10	1154	c.1050G>A	c.(1048-1050)GTG>GTA	p.V350V	KDM2B_uc001uas.2_Silent_p.V319V|KDM2B_uc001uau.2_Silent_p.V233V|KDM2B_uc001uav.3_Silent_p.V260V	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	350					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						ATTTGGGCTGCACCTGAAAGC	0.577												
LRRC43	254050	broad.mit.edu	37	12	122676072	122676072	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:122676072T>C	uc009zxm.2	+	6	1072	c.1047T>C	c.(1045-1047)GAT>GAC	p.D349D	LRRC43_uc001ubw.3_Silent_p.D164D|LRRC43_uc009zxn.2_Silent_p.D110D	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	349											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)		TTGTGAAAGATGAAGAAGGCG	0.537											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KNTC1	9735	broad.mit.edu	37	12	123055441	123055441	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:123055441T>C	uc001ucv.2	+	23	2042	c.1879T>C	c.(1879-1881)TTG>CTG	p.L627L	KNTC1_uc010taf.1_Silent_p.L590L	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	627					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)		TGCAAAATGGTTGGAACAAGC	0.299												
GPR81	27198	broad.mit.edu	37	12	123214828	123214828	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:123214828G>A	uc001ucz.2	-	1	302	c.59C>T	c.(58-60)CCG>CTG	p.P20L	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	20	Extracellular (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)		AATGAGCAGCGGCGGCATCAC	0.622												
EIF2B1	1967	broad.mit.edu	37	12	124106442	124106442	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:124106442G>A	uc001ufm.2	-	9	922	c.779C>T	c.(778-780)GCG>GTG	p.A260V	EIF2B1_uc001ufn.2_Missense_Mutation_p.A258V	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	260					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TCCAGTCTGCGCGACCTTGAG	0.522												
ATP6V0A2	23545	broad.mit.edu	37	12	124209219	124209219	+	Missense_Mutation	SNP	G	G	A	rs146676679		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:124209219G>A	uc001ufr.2	+	4	561	c.313G>A	c.(313-315)GAG>AAG	p.E105K	ATP6V0A2_uc001ufq.1_Missense_Mutation_p.E105K	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	105	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GCAGAAGCTCGAGGTTGAACT	0.388												
CCDC92	80212	broad.mit.edu	37	12	124421711	124421711	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:124421711T>G	uc001ufw.1	-	5	1037	c.890A>C	c.(889-891)CAC>CCC	p.H297P	CCDC92_uc001ufv.1_Missense_Mutation_p.H280P|CCDC92_uc001ufx.1_Missense_Mutation_p.H297P|CCDC92_uc001ufy.1_Missense_Mutation_p.H280P	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	297											0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CGGGGTGGCGTGGTGGATCCG	0.692												
SCARB1	949	broad.mit.edu	37	12	125294823	125294823	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:125294823G>A	uc001ugo.3	-	6	992	c.739C>T	c.(739-741)CAT>TAT	p.H247Y	SCARB1_uc001ugn.3_Missense_Mutation_p.H247Y|SCARB1_uc001ugm.3_Missense_Mutation_p.H247Y|SCARB1_uc010tbd.1_Missense_Mutation_p.H247Y|SCARB1_uc010tbe.1_Missense_Mutation_p.H206Y|SCARB1_uc001ugp.3_Missense_Mutation_p.H247Y	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	247	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TGATCGGAATGCCAGAAGTCA	0.567												
FZD10	11211	broad.mit.edu	37	12	130648515	130648515	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:130648515G>A	uc001uii.2	+	1	1484	c.1028G>A	c.(1027-1029)GGC>GAC	p.G343D	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	343	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)		AAGAAGTGGGGCCACGAGGCC	0.647												
GPR133	283383	broad.mit.edu	37	12	131451073	131451073	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:131451073C>T	uc001uit.3	+	3	728	c.169C>T	c.(169-171)CTT>TTT	p.L57F	GPR133_uc010tbm.1_Missense_Mutation_p.L57F	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	57	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)		GATCCATGAACTTCAGGATAC	0.532												
ZNF10	7556	broad.mit.edu	37	12	133733098	133733098	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:133733098G>A	uc009zzb.2	+	5	1713	c.1266G>A	c.(1264-1266)GTG>GTA	p.V422V	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Silent_p.V422V	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	422	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACCTTGTTGTGCATCATAGAA	0.418												
CENPJ	55835	broad.mit.edu	37	13	25457398	25457398	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:25457398C>T	uc001upt.3	-	17	4187	c.3934G>A	c.(3934-3936)GGT>AGT	p.G1312S	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1312					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTTGATGACCGTTTGCATAT	0.443												
LNX2	222484	broad.mit.edu	37	13	28136599	28136599	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:28136599C>A	uc001url.3	-	5	1484	c.1175G>T	c.(1174-1176)GGG>GTG	p.G392V	LNX2_uc001urm.1_Missense_Mutation_p.G392V	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	392	PDZ 2.						zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CAGGTCGTGCCCATTGATGGC	0.527												
FLT3	2322	broad.mit.edu	37	13	28636133	28636133	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:28636133G>A	uc001urw.2	-	3	321	c.239C>T	c.(238-240)GCT>GTT	p.A80V	FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.A80V	NM_004119	NP_004110	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3 precursor	80	Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.599_560>LTGSSDNEYFYVDFREYEY(1)		haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CACTTCCACAGCGGCAGCTTC	0.532			Mis|O		AML|ALL							
FLT1	2321	broad.mit.edu	37	13	29008007	29008007	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:29008007A>G	uc001usb.3	-	6	1047	c.762T>C	c.(760-762)GCT>GCC	p.A254A	FLT1_uc010aar.1_Silent_p.A254A|FLT1_uc001usc.3_Silent_p.A254A|FLT1_uc010tdp.1_Silent_p.A254A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	254	Extracellular (Potential).|Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGGGAGTGGTAGCAGTACAAT	0.423												
SLC46A3	283537	broad.mit.edu	37	13	29287374	29287374	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:29287374C>T	uc001usi.2	-	2	1473	c.503G>A	c.(502-504)CGA>CAA	p.R168Q	SLC46A3_uc001usg.2_Missense_Mutation_p.R93Q|SLC46A3_uc001usj.2_Missense_Mutation_p.R168Q|SLC46A3_uc001ush.2_Missense_Mutation_p.R168Q|SLC46A3_uc001usk.2_Missense_Mutation_p.R93Q	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	168	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		GATAGCTATTCGAATTGTTTT	0.373												
FRY	10129	broad.mit.edu	37	13	32868578	32868578	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:32868578A>G	uc001utx.2	+	60	9150	c.8654A>G	c.(8653-8655)GAC>GGC	p.D2885G	FRY_uc010tdw.1_RNA|FRY_uc001utz.2_Missense_Mutation_p.D416G|FRY_uc010tdx.1_Missense_Mutation_p.D255G	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTGCAGCTGACCCTCTCTAT	0.493												
BRCA2	675	broad.mit.edu	37	13	32972903	32972903	+	Missense_Mutation	SNP	T	T	G	rs80359259		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:32972903T>G	uc001uub.1	+	27	10480	c.10253T>G	c.(10252-10254)ATC>AGC	p.I3418S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3418					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAAATATATCTAAGCATTT	0.353			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)		
SPG20	23111	broad.mit.edu	37	13	36900787	36900787	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:36900787A>G	uc001uvn.2	-	6	1483	c.1213T>C	c.(1213-1215)TGT>CGT	p.C405R	SPG20_uc010ten.1_Missense_Mutation_p.C395R|SPG20_uc001uvm.2_Missense_Mutation_p.C405R|SPG20_uc001uvo.2_Missense_Mutation_p.C405R|SPG20_uc001uvq.2_Missense_Mutation_p.C405R|SPG20_uc001uvp.2_Missense_Mutation_p.C405R	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	405					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ACTGGCTCACATGGTACAATG	0.348												
SMAD9	4093	broad.mit.edu	37	13	37439797	37439797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:37439797G>A	uc001uvw.2	-	5	1223	c.880C>T	c.(880-882)CGA>TGA	p.R294*	SMAD9_uc001uvx.2_Nonsense_Mutation_p.R257*|SMAD9_uc010tep.1_Nonsense_Mutation_p.R87*	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	294	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGCACACTTCGGGAGGAAGCC	0.473												
C13orf23	80209	broad.mit.edu	37	13	39603448	39603448	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:39603448T>G	uc001uwy.2	-	4	1118	c.245A>C	c.(244-246)GAC>GCC	p.D82A	C13orf23_uc001uwz.2_Missense_Mutation_p.D60A	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	82										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)		AACTAGTTTGTCTTTACTGAA	0.294												
SLC25A15	10166	broad.mit.edu	37	13	41379273	41379273	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:41379273G>A	uc001uxn.2	+	4	656	c.334G>A	c.(334-336)GCC>ACC	p.A112T	SUGT1L1_uc001uxp.1_Intron|SLC25A15_uc010tfb.1_Missense_Mutation_p.A18T|SUGT1L1_uc001uxo.1_RNA	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	mitochondrial ornithine transporter 1	112	Helical; Name=3; (Potential).|Solcar 2.				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	GAATGCAGCCGCCGGTTCCTT	0.542												
MTRF1	9617	broad.mit.edu	37	13	41827154	41827154	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:41827154G>T	uc001uxx.2	-	6	990	c.520C>A	c.(520-522)CTT>ATT	p.L174I	MTRF1_uc001uxy.2_Missense_Mutation_p.L174I|MTRF1_uc001uxz.2_Missense_Mutation_p.L10I|MTRF1_uc010tff.1_Missense_Mutation_p.L187I|MTRF1_uc001uyc.1_Missense_Mutation_p.L174I	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	174					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TTTGGCACAAGGCTCTGGAAA	0.333												
NAA16	79612	broad.mit.edu	37	13	41943362	41943362	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:41943362A>T	uc001uyf.2	+	15	2214	c.1890A>T	c.(1888-1890)GAA>GAT	p.E630D	NAA16_uc010tfg.1_RNA	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	630					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1						aaagagatgaagaagaagaag	0.219												
SLC25A30	253512	broad.mit.edu	37	13	45980026	45980026	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:45980026C>T	uc001vag.2	-	4	436	c.299G>A	c.(298-300)CGC>CAC	p.R100H	SLC25A30_uc010tfs.1_Missense_Mutation_p.R25H|SLC25A30_uc001vah.2_Missense_Mutation_p.R25H|SLC25A30_uc010tft.1_Missense_Mutation_p.R49H|SLC25A30_uc001vaf.2_5'Flank	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	100					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		ACCTTCTGGGCGTTCAATGAA	0.473												
RB1	5925	broad.mit.edu	37	13	48919235	48919235	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:48919235T>G	uc001vcb.2	+	4	566	c.400T>G	c.(400-402)TTA>GTA	p.L134V	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	134					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.?(5)|p.L134fs*1(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)	ATTCTTTAACTTACTAAAAGA	0.284		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)		
SERPINE3	647174	broad.mit.edu	37	13	51936035	51936035	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:51936035A>G	uc001vfh.2	+	7	1237	c.1177A>G	c.(1177-1179)ACA>GCA	p.T393A	SERPINE3_uc010tgp.1_Intron|INTS6_uc001vfi.2_3'UTR|INTS6_uc001vfj.2_3'UTR|INTS6_uc001vfk.2_3'UTR|INTS6_uc001vfl.2_3'UTR	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	nexin-related serine protease inhibitor	393					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CACAGGTATTACAGTATTTTT	0.383												
PCDH17	27253	broad.mit.edu	37	13	58208186	58208186	+	Silent	SNP	C	C	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:58208186C>G	uc001vhq.1	+	1	2398	c.1506C>G	c.(1504-1506)GGC>GGG	p.G502G	PCDH17_uc010aec.1_Silent_p.G502G	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	502	Extracellular (Potential).|Cadherin 5.				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)		CCGACCTGGGCCAGAACGGCA	0.597												
PCDH17	27253	broad.mit.edu	37	13	58208609	58208609	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:58208609C>T	uc001vhq.1	+	1	2821	c.1929C>T	c.(1927-1929)GGC>GGT	p.G643G	PCDH17_uc010aec.1_Silent_p.G643G	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	643	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)		CGTCCAGCGGCGAGATCCGCA	0.657												
DACH1	1602	broad.mit.edu	37	13	72146986	72146986	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:72146986T>C	uc010thn.1	-	5	1708	c.1285A>G	c.(1285-1287)ACA>GCA	p.T429A	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	481					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ATAACTGATGTCTCAACTCTG	0.403												
TBC1D4	9882	broad.mit.edu	37	13	75901914	75901914	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:75901914G>A	uc001vjl.1	-	9	2127	c.1780C>T	c.(1780-1782)CGG>TGG	p.R594W	TBC1D4_uc010aer.2_Missense_Mutation_p.R594W|TBC1D4_uc010aes.2_Missense_Mutation_p.R594W	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	594						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGTTGGACCGTTCAAAACTG	0.393												
UCHL3	7347	broad.mit.edu	37	13	76179898	76179898	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:76179898C>T	uc001vjq.2	+	9	673	c.643C>T	c.(643-645)CGC>TGC	p.R215C	UCHL3_uc001vjr.2_Missense_Mutation_p.R179C	NM_006002	NP_005993	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3	215					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity				0				GBM - Glioblastoma multiforme(99;0.0125)		GTTTATGGAGCGCGACCCTGA	0.323												
IPO5	3843	broad.mit.edu	37	13	98641389	98641389	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:98641389A>G	uc001vnf.1	+	4	503	c.438A>G	c.(436-438)GGA>GGG	p.G146G	IPO5_uc001vne.2_Silent_p.G164G|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Silent_p.G86G	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	146					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						AAAATGTGGGACTGCGGGAAG	0.373												
FAM155A	728215	broad.mit.edu	37	13	107822998	107822998	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:107822998T>C	uc001vql.2	-	3	1740	c.1224A>G	c.(1222-1224)TCA>TCG	p.S408S		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	408						integral to membrane	binding			skin(1)	1						GTCTTGTTGCTGATGACACTG	0.493												
ARHGEF7	8874	broad.mit.edu	37	13	111953116	111953116	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:111953116C>T	uc010tjo.1	+	18	1962	c.1910C>T	c.(1909-1911)CCA>CTA	p.P637L	ARHGEF7_uc001vrv.3_Missense_Mutation_p.P562L|ARHGEF7_uc001vrw.3_Missense_Mutation_p.P562L|ARHGEF7_uc001vrx.3_Missense_Mutation_p.P562L	NM_003899	NP_003890	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform a	Error:Variant_position_missing_in_Q14155_after_alignment					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAATCTGCTCCACAAGTTTTG	0.353												
POTEG	404785	broad.mit.edu	37	14	19553815	19553815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:19553815C>A	uc001vuz.1	+	1	451	c.399C>A	c.(397-399)TAC>TAA	p.Y133*	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	133										ovary(1)	1						AGCCGAGGTACCACGTCCGTC	0.587												
OR4M1	441670	broad.mit.edu	37	14	20248598	20248598	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:20248598A>G	uc010tku.1	+	1	117	c.117A>G	c.(115-117)CTA>CTG	p.L39L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	39	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTCATCCTACCAGGAAATA	0.428												
OR4K15	81127	broad.mit.edu	37	14	20443718	20443718	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:20443718A>C	uc010tkx.1	+	1	41	c.41A>C	c.(40-42)CAG>CCG	p.Q14P		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	14	Extracellular (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)		TCTCCTATTCAGGTAGCTGAA	0.383												
OSGEP	55644	broad.mit.edu	37	14	20915437	20915437	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:20915437A>G	uc001vxf.2	-	11	1326	c.970T>C	c.(970-972)TAT>CAT	p.Y324H		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	324					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TCTGTCCGATACCTGTGGAAA	0.473												
RNASE4	6038	broad.mit.edu	37	14	21167799	21167799	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:21167799T>C	uc001vxy.3	+	2	832	c.269T>C	c.(268-270)ATC>ACC	p.I90T	RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.I90T	NM_002937	NP_002928	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4 precursor	90					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)	1	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		ACCACCAATATCCAATGCAAG	0.478												
CHD8	57680	broad.mit.edu	37	14	21862288	21862288	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:21862288C>T	uc001was.1	-	32	4923	c.4829G>A	c.(4828-4830)CGT>CAT	p.R1610H	CHD8_uc001war.1_Missense_Mutation_p.R1506H|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1889					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)		CAATTCTATACGGTAGAGAGT	0.512												
CHD8	57680	broad.mit.edu	37	14	21868764	21868764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:21868764G>A	uc001was.1	-	23	3635	c.3541C>T	c.(3541-3543)CGA>TGA	p.R1181*	CHD8_uc001war.1_Nonsense_Mutation_p.R1077*|CHD8_uc001wav.1_Nonsense_Mutation_p.R623*	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1460					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)		TCTCGCCATCGTCCCCAACTA	0.418												
CHD8	57680	broad.mit.edu	37	14	21896123	21896123	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:21896123G>A	uc001was.1	-	4	763	c.669C>T	c.(667-669)CGC>CGT	p.R223R	CHD8_uc001war.1_Silent_p.R119R	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	502					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)		TCTTCTTCCTGCGTTTCTTCT	0.542												
MYH7	4625	broad.mit.edu	37	14	23885266	23885266	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:23885266G>A	uc001wjx.2	-	34	5006	c.4900C>T	c.(4900-4902)CGC>TGC	p.R1634C		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1634	Potential.		R -> C (in CMD1S).		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)		GCGGCCATGCGGTTGGCGTGG	0.612												
JPH4	84502	broad.mit.edu	37	14	24040254	24040254	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:24040254C>T	uc001wkq.2	-	6	2604	c.1686G>A	c.(1684-1686)ACG>ACA	p.T562T	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.2_5'Flank|JPH4_uc010tnr.1_Silent_p.T227T|JPH4_uc001wkr.2_Silent_p.T562T	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	562	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTCAGGCTCCGTGCCTGCTG	0.682												
PCK2	5106	broad.mit.edu	37	14	24572402	24572402	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:24572402G>A	uc001wlt.2	+	9	1538	c.1406G>A	c.(1405-1407)CGT>CAT	p.R469H	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.R481H|PCK2_uc010tnw.1_Missense_Mutation_p.R335H|PCK2_uc010tnx.1_Missense_Mutation_p.R335H|PCK2_uc001wlu.3_Intron	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	469					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		TTCAACTGGCGTCATGGGGTG	0.567												
RNF31	55072	broad.mit.edu	37	14	24617593	24617593	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:24617593C>A	uc001wmn.1	+	3	715	c.466C>A	c.(466-468)CTT>ATT	p.L156I	PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_5'UTR|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	156	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		AGTACTGCTGCTTCGGACAGA	0.552												
RIPK3	11035	broad.mit.edu	37	14	24806443	24806443	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:24806443T>C	uc001wpb.2	-	8	1334	c.1124A>G	c.(1123-1125)CAA>CGA	p.Q375R	ADCY4_uc001wov.2_5'Flank|ADCY4_uc001wow.2_5'Flank|ADCY4_uc010toh.1_5'Flank|ADCY4_uc001wox.2_5'Flank|ADCY4_uc001woy.2_5'Flank|ADCY4_uc001woz.3_5'Flank|RIPK3_uc001wpa.2_Missense_Mutation_p.Q175R|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_Missense_Mutation_p.Q154R	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	375					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		CTGCTCCTCTTGTGCCCTGCT	0.517												
COCH	1690	broad.mit.edu	37	14	31348147	31348147	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:31348147A>G	uc001wqr.2	+	5	450	c.370A>G	c.(370-372)ACT>GCT	p.T124A	COCH_uc001wqp.2_Missense_Mutation_p.T124A|COCH_uc001wqq.3_Missense_Mutation_p.T124A|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	124					sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTTCACAGTAACTAGTAGGTA	0.403												
NIN	51199	broad.mit.edu	37	14	51225270	51225270	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:51225270A>G	uc001wym.2	-	18	2669	c.2478T>C	c.(2476-2478)ACT>ACC	p.T826T	NIN_uc001wyi.2_Silent_p.T826T|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Silent_p.T832T|NIN_uc001wyo.2_Silent_p.T826T	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	826	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					CACACCTCTCAGTGACTTTCT	0.478			T	PDGFRB	MPD							
WDHD1	11169	broad.mit.edu	37	14	55411081	55411081	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:55411081C>T	uc001xbm.1	-	25	3236	c.3158G>A	c.(3157-3159)CGA>CAA	p.R1053Q	WDHD1_uc010aom.1_Missense_Mutation_p.R570Q|WDHD1_uc001xbn.1_Missense_Mutation_p.R930Q	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1053	HMG box.					cytoplasm|nucleoplasm	DNA binding			skin(1)	1						TACTCTAAATCGAATCATTCC	0.333												
SOCS4	122809	broad.mit.edu	37	14	55510977	55510977	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:55510977C>T	uc001xbo.2	+	3	1783	c.1218C>T	c.(1216-1218)ATC>ATT	p.I406I	SOCS4_uc001xbp.2_Silent_p.I406I	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	406	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2						ATGATGGCATCGATGCCCTTC	0.368												
FBXO34	55030	broad.mit.edu	37	14	55818441	55818441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:55818441C>T	uc001xbu.2	+	2	1578	c.1333C>T	c.(1333-1335)CGA>TGA	p.R445*	FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Nonsense_Mutation_p.R445*	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN	F-box only protein 34	445										ovary(2)|lung(2)|skin(1)	5						CCTTACTAGCCGAAATCCTGA	0.438												
KIAA0831	22863	broad.mit.edu	37	14	55836623	55836623	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:55836623C>T	uc001xbx.1	-	10	1229	c.1193G>A	c.(1192-1194)CGA>CAA	p.R398Q	FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.R285Q	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Barkor	398					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding				0						AAGGTCTGCTCGTACTTCAAA	0.507												
C14orf101	54916	broad.mit.edu	37	14	57052563	57052563	+	Missense_Mutation	SNP	C	C	T	rs144727961	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:57052563C>T	uc001xcm.2	+	3	399	c.277C>T	c.(277-279)CGC>TGC	p.R93C	C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Missense_Mutation_p.R93C|C14orf101_uc010aot.1_Missense_Mutation_p.R93C|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	hypothetical protein LOC54916	93						integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)		AATTGCCTACCGCGTCAATCT	0.403												
EXOC5	10640	broad.mit.edu	37	14	57714400	57714400	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:57714400G>A	uc001xct.2	-	2	309	c.58C>T	c.(58-60)CGT>TGT	p.R20C	EXOC5_uc010trg.1_Translation_Start_Site|EXOC5_uc010trh.1_Missense_Mutation_p.R20C	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	20					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3						CATACAAGACGTTCAATATAT	0.328												
C14orf50	145376	broad.mit.edu	37	14	65054921	65054921	+	Silent	SNP	C	C	T	rs142941569	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:65054921C>T	uc001xhl.1	+	11	1086	c.990C>T	c.(988-990)AAC>AAT	p.N330N	C14orf50_uc001xhm.1_Silent_p.N60N	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	330										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		AAGCTCAAAACGTCTTTGAGA	0.463												
PLEKHG3	26030	broad.mit.edu	37	14	65208796	65208796	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:65208796T>C	uc001xho.1	+	16	2830	c.2561T>C	c.(2560-2562)CTG>CCG	p.L854P	PLEKHG3_uc001xhn.1_Missense_Mutation_p.L798P|PLEKHG3_uc001xhp.2_Missense_Mutation_p.L975P|PLEKHG3_uc010aqh.1_Missense_Mutation_p.L396P|PLEKHG3_uc001xhq.1_Missense_Mutation_p.L359P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	854					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GAGCATGAGCTGGGAGCCATC	0.662												
FNTB	2342	broad.mit.edu	37	14	65520041	65520041	+	Silent	SNP	G	G	A	rs149471226		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:65520041G>A	uc001xia.2	+	10	1206	c.1041G>A	c.(1039-1041)GCG>GCA	p.A347A	FNTB_uc010tsl.1_Silent_p.A381A|FNTB_uc010tsm.1_Silent_p.A301A|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.A103A|FNTB_uc010tso.1_Silent_p.A262A	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	347	PFTB 5.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGTGCCCTGCGGGGGGGCTTC	0.597												
RDH11	51109	broad.mit.edu	37	14	68151878	68151878	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:68151878T>C	uc001xjv.3	-	6	798	c.708A>G	c.(706-708)CAA>CAG	p.Q236Q	RDH11_uc001xjw.3_Silent_p.Q223Q|RDH11_uc001xjx.3_Silent_p.Q166Q	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	236	Cytoplasmic (Potential).				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CCAGTTCAGATTGGACTGTGC	0.517												
MAP3K9	4293	broad.mit.edu	37	14	71200020	71200020	+	Missense_Mutation	SNP	C	C	T	rs147124893		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:71200020C>T	uc001xmm.2	-	11	2066	c.2066G>A	c.(2065-2067)CGC>CAC	p.R689H	MAP3K9_uc010ttk.1_Missense_Mutation_p.R417H|MAP3K9_uc001xmk.2_Missense_Mutation_p.R422H|MAP3K9_uc001xml.2_Missense_Mutation_p.R703H	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	689					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		atgctgtaggcgactctctcc	0.299												
RBM25	58517	broad.mit.edu	37	14	73554751	73554751	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:73554751G>A	uc001xno.2	+	6	633	c.425G>A	c.(424-426)CGT>CAT	p.R142H	RBM25_uc001xnn.3_Missense_Mutation_p.R142H|RBM25_uc010ttu.1_Missense_Mutation_p.R142H|RBM25_uc001xnp.2_Translation_Start_Site	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	142	RRM.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCTACCCTCCGTGCACTCAGA	0.388												
C14orf45	80127	broad.mit.edu	37	14	74514756	74514756	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:74514756T>C	uc010tup.1	+	7	894	c.771T>C	c.(769-771)CAT>CAC	p.H257H	C14orf45_uc001xpm.1_RNA	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	hypothetical protein LOC80127	257											0				BRCA - Breast invasive adenocarcinoma(234;0.00351)		AAGAGAGTCATACTTTACTTT	0.348												
LTBP2	4053	broad.mit.edu	37	14	74995349	74995349	+	Silent	SNP	G	G	A	rs144915925		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:74995349G>A	uc001xqa.2	-	12	2592	c.2205C>T	c.(2203-2205)TCC>TCT	p.S735S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	735					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.S735S(1)		liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCGGATGTCGGAGCTCGCGT	0.642												
YLPM1	56252	broad.mit.edu	37	14	75265268	75265268	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:75265268C>T	uc001xqj.3	+	5	3392	c.3268C>T	c.(3268-3270)CGG>TGG	p.R1090W	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	895	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGGAAGCAGTCGGGAGAAAGT	0.587												
TMED10	10972	broad.mit.edu	37	14	75643173	75643173	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:75643173G>A	uc001xrm.1	-	1	177	c.110C>T	c.(109-111)CCC>CTC	p.P37L	TMED10_uc010ash.1_RNA	NM_006827	NP_006818	P49755	TMEDA_HUMAN	transmembrane emp24 domain-containing protein 10	37	Lumenal (Potential).				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0126)		AGAGTTAATGGGCAGATGGAA	0.612												
NRXN3	9369	broad.mit.edu	37	14	80328296	80328296	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:80328296T>C	uc001xun.2	+	17	3666	c.3175T>C	c.(3175-3177)TAT>CAT	p.Y1059H	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.Y635H|NRXN3_uc010asw.2_Missense_Mutation_p.Y457H|NRXN3_uc001xur.3_Missense_Mutation_p.Y430H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1641	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGACAGGGAGTATTACGTGTA	0.493												
TSHR	7253	broad.mit.edu	37	14	81610228	81610228	+	Missense_Mutation	SNP	G	G	A	rs139352934	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:81610228G>A	uc001xvd.1	+	10	1982	c.1826G>A	c.(1825-1827)CGA>CAA	p.R609Q		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	609	Cytoplasmic (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ATCACAGTCCGAAATCCGCAG	0.463			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 					
FLRT2	23768	broad.mit.edu	37	14	86088134	86088134	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:86088134G>A	uc001xvr.2	+	2	1043	c.276G>A	c.(274-276)ACG>ACA	p.T92T	FLRT2_uc010atd.2_Silent_p.T92T	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	92	Extracellular (Potential).|LRR 2.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CGGTGCACACGGTCTACCTGT	0.463												
KCNK10	54207	broad.mit.edu	37	14	88652183	88652183	+	Missense_Mutation	SNP	G	G	A	rs61738734	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:88652183G>A	uc001xwo.2	-	7	1770	c.1313C>T	c.(1312-1314)GCG>GTG	p.A438V	KCNK10_uc001xwm.2_Missense_Mutation_p.A443V|KCNK10_uc001xwn.2_Missense_Mutation_p.A443V	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	438	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						GTCCTCGGACGCACCCTGCCC	0.572												
PTPN21	11099	broad.mit.edu	37	14	88945665	88945665	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:88945665C>A	uc001xwv.3	-	13	2441	c.2110G>T	c.(2110-2112)GCC>TCC	p.A704S	PTPN21_uc010twc.1_Missense_Mutation_p.A500S	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	704						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						AGCATGGTGGCGTCCGACAGG	0.682												
TDP1	55775	broad.mit.edu	37	14	90429630	90429630	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:90429630A>G	uc001xxy.2	+	3	471	c.172A>G	c.(172-174)AGG>GGG	p.R58G	TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.R58G|TDP1_uc010atn.2_Missense_Mutation_p.R58G|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.R58G|TDP1_uc001xyc.1_Missense_Mutation_p.R58G	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	58					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGCACACAAGAGGAAAATATC	0.512								Repair_of_DNA-protein_crosslinks				
DICER1	23405	broad.mit.edu	37	14	95583999	95583999	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:95583999C>T	uc001ydw.2	-	10	1651	c.1469G>A	c.(1468-1470)CGC>CAC	p.R490H	DICER1_uc001ydv.2_Missense_Mutation_p.R480H|DICER1_uc001ydx.2_Missense_Mutation_p.R490H	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	490	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTGTTTGTTGCGAGGCTGATT	0.383			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
BCL11B	64919	broad.mit.edu	37	14	99723922	99723922	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:99723922C>T	uc001yga.2	-	2	580	c.313G>A	c.(313-315)GAG>AAG	p.E105K	BCL11B_uc001ygb.2_Missense_Mutation_p.E105K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	105						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TTCCTGAGCTCGGAGCGTGAG	0.592			T	TLX3	T-ALL							
DIO3	1735	broad.mit.edu	37	14	102028223	102028223	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:102028223C>T	uc010txq.1	+	1	536	c.312C>T	c.(310-312)CAC>CAT	p.H104H	DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	104	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)				AGCAGGCGCACGAGGGCGGTC	0.657												
TECPR2	9895	broad.mit.edu	37	14	102910059	102910059	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:102910059G>A	uc001ylw.1	+	12	2976	c.2828G>A	c.(2827-2829)CGG>CAG	p.R943Q	TECPR2_uc010awl.2_Missense_Mutation_p.R943Q|TECPR2_uc010txx.1_Missense_Mutation_p.R106Q	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	943							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						ATCACAGCCCGGAACAATGTG	0.617												
NIPA2	81614	broad.mit.edu	37	15	23014510	23014510	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:23014510G>C	uc001yux.2	-	6	828	c.215C>G	c.(214-216)GCC>GGC	p.A72G	NIPA2_uc001yuy.2_Missense_Mutation_p.A72G|NIPA2_uc001yuz.2_Missense_Mutation_p.A72G|NIPA2_uc001yva.2_Missense_Mutation_p.A53G|NIPA2_uc001yvb.2_Missense_Mutation_p.A72G|NIPA2_uc010ayb.2_Missense_Mutation_p.A53G	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome	72	Helical; (Potential).					early endosome|integral to membrane|plasma membrane				haematopoietic_and_lymphoid_tissue(1)	1		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;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AGCGAAGTTGGCCACCTCACC	0.458												
MAGEL2	54551	broad.mit.edu	37	15	23890346	23890346	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:23890346C>T	uc001ywj.3	-	1	830	c.735G>A	c.(733-735)TCG>TCA	p.S245S		NM_019066	NP_061939			MAGE-like protein 2												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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCACTGCCTGCGATGCCTTTG	0.612												
HERC2	8924	broad.mit.edu	37	15	28408251	28408251	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:28408251C>T	uc001zbj.2	-	69	10841	c.10735G>A	c.(10735-10737)GCC>ACC	p.A3579T		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3579					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTGGGTAGGCGGTCCCCATG	0.647												
TJP1	7082	broad.mit.edu	37	15	30011319	30011319	+	Silent	SNP	G	G	A	rs45562135		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:30011319G>A	uc001zcr.2	-	21	3502	c.3027C>T	c.(3025-3027)CCC>CCT	p.P1009P	TJP1_uc010azl.2_Silent_p.P997P|TJP1_uc001zcq.2_Silent_p.P933P|TJP1_uc001zcs.2_Silent_p.P929P	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1009					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)		TCATTTCCTCGGGATATGGAT	0.393												
RYR3	6263	broad.mit.edu	37	15	33831643	33831643	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:33831643G>A	uc001zhi.2	+	6	596	c.526G>A	c.(526-528)GTG>ATG	p.V176M	RYR3_uc010bar.2_Missense_Mutation_p.V176M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	176	MIR 2.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCGTCAGCGTGTCCTCTGA	0.433												
RYR3	6263	broad.mit.edu	37	15	33988594	33988594	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:33988594C>T	uc001zhi.2	+	39	6106	c.6036C>T	c.(6034-6036)AGC>AGT	p.S2012S	RYR3_uc010bar.2_Silent_p.S2012S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2012	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCTGTAAGCGACACCATCA	0.582												
RYR3	6263	broad.mit.edu	37	15	34145782	34145782	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:34145782C>T	uc001zhi.2	+	96	13768	c.13698C>T	c.(13696-13698)TAC>TAT	p.Y4566Y	RYR3_uc010bar.2_Silent_p.Y4561Y	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4566					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGATCTCTACGGAGCAGAAC	0.488												
C15orf29	79768	broad.mit.edu	37	15	34445071	34445071	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:34445071T>C	uc001zhp.2	-	4	518	c.358A>G	c.(358-360)ACA>GCA	p.T120A	C15orf29_uc010ubz.1_Missense_Mutation_p.T24A|C15orf29_uc010uca.1_Missense_Mutation_p.T120A	NM_024713	NP_078989	Q9H079	CO029_HUMAN	hypothetical protein LOC79768	120						nucleolus				ovary(1)	1		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		ACCAAATATGTTCGACTATCA	0.418												
SLC12A6	9990	broad.mit.edu	37	15	34531353	34531353	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:34531353C>T	uc001zhw.2	-	19	2609	c.2445G>A	c.(2443-2445)AAG>AAA	p.K815K	SLC12A6_uc001zhv.2_Silent_p.K764K|SLC12A6_uc001zhx.2_Silent_p.K800K|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Silent_p.K756K|SLC12A6_uc001zib.2_Silent_p.K806K|SLC12A6_uc001zic.2_Silent_p.K815K|SLC12A6_uc010bau.2_Silent_p.K815K|SLC12A6_uc001zid.2_Silent_p.K756K|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Silent_p.K627K	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	815					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCATTAGGTGCTTTATGGTCT	0.493												
MEIS2	4212	broad.mit.edu	37	15	37187361	37187361	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:37187361G>A	uc001zjr.2	-	11	2175	c.1138C>T	c.(1138-1140)CGG>TGG	p.R380W	MEIS2_uc001zjl.2_Missense_Mutation_p.R367W|MEIS2_uc010ucj.1_Missense_Mutation_p.R360W|MEIS2_uc001zjm.2_Missense_Mutation_p.R285W|MEIS2_uc001zjn.2_Missense_Mutation_p.R234W|MEIS2_uc001zjo.2_Missense_Mutation_p.R380W|MEIS2_uc001zjp.2_Missense_Mutation_p.R373W|MEIS2_uc001zjs.2_Missense_Mutation_p.R373W|MEIS2_uc001zju.2_Missense_Mutation_p.R360W|MEIS2_uc001zjt.2_Missense_Mutation_p.R373W|MEIS2_uc001zjj.2_Missense_Mutation_p.R76W|MEIS2_uc001zjk.2_Missense_Mutation_p.R69W	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	380					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCTGCAGGCCGGATCCCCATG	0.567												
THBS1	7057	broad.mit.edu	37	15	39875834	39875834	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:39875834T>C	uc001zkh.2	+	4	823	c.644T>C	c.(643-645)GTG>GCG	p.V215A		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	215	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTGCAGAATGTGAGGTTTGTC	0.527											OREG0023051	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	40018788	40018788	+	Splice_Site	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:40018788A>G	uc001zki.2	-	9	1268	c.1050_splice	c.e9+1	p.Q350_splice		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1											ovary(2)|skin(1)	3		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)		TTCTTCAAATACCTGATTATT	0.373												
C15orf23	90417	broad.mit.edu	37	15	40683717	40683717	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:40683717T>G	uc001zll.2	+	7	824	c.709T>G	c.(709-711)TCA>GCA	p.S237A	C15orf23_uc010ucp.1_Missense_Mutation_p.S237A|C15orf23_uc001zlo.2_Intron|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	237						nucleus	protein binding			ovary(1)|skin(1)	2		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)		GACCCTGGCATCACGACAAGA	0.473												
CHAC1	79094	broad.mit.edu	37	15	41247781	41247781	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:41247781G>A	uc001znh.2	+	3	624	c.604G>A	c.(604-606)GCC>ACC	p.A202T	CHAC1_uc010uct.1_Missense_Mutation_p.A157T	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	202					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCCTGAAGAGGCCATTGCCAC	0.607												
SPG11	80208	broad.mit.edu	37	15	44876193	44876193	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:44876193A>G	uc001ztx.2	-	30	5716	c.5685T>C	c.(5683-5685)AGT>AGC	p.S1895S	SPG11_uc010bdw.2_Silent_p.S184S|SPG11_uc010ueh.1_Silent_p.S1895S|SPG11_uc010uei.1_Silent_p.S1895S|SPG11_uc001zty.1_Silent_p.S624S	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1895	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGCATACTCTACTTGCTTCAT	0.468												
DUOX1	53905	broad.mit.edu	37	15	45444515	45444515	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:45444515C>T	uc001zus.1	+	26	3571	c.3225C>T	c.(3223-3225)ATC>ATT	p.I1075I	DUOX1_uc001zut.1_Silent_p.I1075I|DUOX1_uc010bee.1_Silent_p.I455I|DUOX1_uc001zuu.2_Silent_p.I217I	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1075	Interaction with TXNDC11 (By similarity).|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACACGGGCATCACAGACACCA	0.607												
MYEF2	50804	broad.mit.edu	37	15	48459562	48459562	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:48459562G>A	uc001zwi.3	-	3	531	c.407C>T	c.(406-408)GCG>GTG	p.A136V	MYEF2_uc001zwj.3_Missense_Mutation_p.A136V|MYEF2_uc001zwl.2_Intron	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	136	RRM 1.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTTTCCTTCCGCATCCTTAAA	0.368												
SECISBP2L	9728	broad.mit.edu	37	15	49304949	49304949	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:49304949G>A	uc001zxe.1	-	12	1761	c.1627C>T	c.(1627-1629)CCC>TCC	p.P543S	SECISBP2L_uc001zxd.1_Missense_Mutation_p.P498S|SECISBP2L_uc010bep.1_Missense_Mutation_p.P305S	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	543										breast(1)|skin(1)	2						GTCAAACAGGGCTGACTTTTG	0.353												
GALK2	2585	broad.mit.edu	37	15	49493385	49493385	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:49493385A>G	uc001zxj.1	+	2	178	c.80A>G	c.(79-81)AAC>AGC	p.N27S	GALK2_uc001zxi.1_Missense_Mutation_p.N16S|GALK2_uc010ufb.1_Missense_Mutation_p.N3S|GALK2_uc001zxk.2_RNA|GALK2_uc010ufc.1_Missense_Mutation_p.N3S	NM_002044	NP_002035	Q01415	GALK2_HUMAN	galactokinase 2 isoform 1	27					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)	1		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GAGATGTTTAACTCCAAGTTT	0.279												
ATP8B4	79895	broad.mit.edu	37	15	50215592	50215592	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:50215592G>A	uc001zxu.2	-	17	1884	c.1742C>T	c.(1741-1743)ACG>ATG	p.T581M	ATP8B4_uc010ber.2_Missense_Mutation_p.T454M|ATP8B4_uc010ufd.1_Missense_Mutation_p.T391M|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	581	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTGGTCTGACGTCAAAGACAA	0.408												
TMOD3	29766	broad.mit.edu	37	15	52194210	52194210	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:52194210C>T	uc002abm.2	+	9	1220	c.1001C>T	c.(1000-1002)GCT>GTT	p.A334V	TMOD3_uc010bfc.1_RNA	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	334						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1				all cancers(107;0.00194)		GCAGCTAATGCTATAACAAAA	0.378												
MYO5A	4644	broad.mit.edu	37	15	52662454	52662454	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:52662454G>A	uc002aby.2	-	22	3222	c.2978C>T	c.(2977-2979)GCC>GTC	p.A993V	MYO5A_uc002abx.3_Missense_Mutation_p.A993V|MYO5A_uc010uge.1_Missense_Mutation_p.A862V	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	993	Potential.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCGGAGCTTGGCAATTTCTTC	0.453												
ONECUT1	3175	broad.mit.edu	37	15	53081384	53081384	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:53081384T>C	uc002aci.1	-	1	826	c.698A>G	c.(697-699)CAC>CGC	p.H233R		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	233					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)		GGGCGTGAGGTGCTGCTCCCC	0.716												
WDR72	256764	broad.mit.edu	37	15	53907708	53907708	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:53907708C>G	uc002acj.2	-	15	2737	c.2695G>C	c.(2695-2697)GAT>CAT	p.D899H	WDR72_uc010bfi.1_Missense_Mutation_p.D899H	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	899										lung(1)|skin(1)	2				all cancers(107;0.0511)		ACTATAGTATCTGACTCTCGC	0.348												
UNC13C	440279	broad.mit.edu	37	15	54307652	54307652	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:54307652A>G	uc002ack.2	+	1	2552	c.2552A>G	c.(2551-2553)GAT>GGT	p.D851G		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	851					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)		CTTGACTCTGATGTCTACACG	0.418												
RFX7	64864	broad.mit.edu	37	15	56388135	56388135	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:56388135G>A	uc010bfn.2	-	9	1791	c.1791C>T	c.(1789-1791)GAC>GAT	p.D597D	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.D411D	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	500					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						TGGTCCTCTGGTCACAGACCT	0.433												
ALDH1A2	8854	broad.mit.edu	37	15	58287284	58287284	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:58287284T>A	uc002aex.2	-	5	605	c.547A>T	c.(547-549)ATC>TTC	p.I183F	ALDH1A2_uc002aey.2_Missense_Mutation_p.I183F|ALDH1A2_uc010ugv.1_Missense_Mutation_p.I162F|ALDH1A2_uc010ugw.1_Missense_Mutation_p.I154F|ALDH1A2_uc002aew.2_Missense_Mutation_p.I87F	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	183					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACTGGGATGATCTGTCCACAC	0.393												
TLN2	83660	broad.mit.edu	37	15	62978963	62978963	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:62978963C>T	uc002alb.3	+	9	1081	c.1081C>T	c.(1081-1083)CGC>TGC	p.R361C		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	361	FERM.|Interaction with PIP5K1C (By similarity).				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						CACCGTCAAGCGCTGGGCAGC	0.602												
TLN2	83660	broad.mit.edu	37	15	63004122	63004122	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:63004122G>A	uc002alb.3	+	19	2480	c.2480G>A	c.(2479-2481)CGC>CAC	p.R827H		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	827					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						GAAATGGTGCGCCAGGCGCGG	0.498												
HERC1	8925	broad.mit.edu	37	15	63990925	63990925	+	Splice_Site	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:63990925A>G	uc002amp.2	-	26	5053	c.4905_splice	c.e26+1	p.E1635_splice	HERC1_uc010uil.1_Splice_Site_p.E619_splice	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1						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						TCAAAGACTTACTTCTGCCCT	0.418												
TRIP4	9325	broad.mit.edu	37	15	64717782	64717782	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:64717782C>T	uc002anm.2	+	11	1570	c.1527C>T	c.(1525-1527)GGC>GGT	p.G509G		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	509					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3						GTCTTCTGGGCTGTGTGGACC	0.313												
CILP	8483	broad.mit.edu	37	15	65491212	65491212	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:65491212G>A	uc002aon.2	-	9	1593	c.1412C>T	c.(1411-1413)ACG>ATG	p.T471M		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	471					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						GGTGGGTAGCGTGTAGCCACT	0.607												
IGDCC4	57722	broad.mit.edu	37	15	65702545	65702545	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:65702545C>A	uc002aou.1	-	3	744	c.534G>T	c.(532-534)AAG>AAT	p.K178N		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	178	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						TCACCTGGTCCTTCTCCCAAG	0.607												
DENND4A	10260	broad.mit.edu	37	15	66048497	66048497	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:66048497G>A	uc002aph.2	-	3	670	c.292C>T	c.(292-294)CCT>TCT	p.P98S	DENND4A_uc002api.2_Missense_Mutation_p.P98S|DENND4A_uc002apj.3_Missense_Mutation_p.P98S|DENND4A_uc010ujj.1_Missense_Mutation_p.P98S	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	98	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						GTAAGTGGAGGCTTATCTCTT	0.378												
MAP2K1	5604	broad.mit.edu	37	15	66737006	66737006	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:66737006C>A	uc010bhq.2	+	5	1004	c.529C>A	c.(529-531)CTG>ATG	p.L177M	MAP2K1_uc010ujp.1_Missense_Mutation_p.L155M	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	177	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						AATAAAAGGCCTGACATATCT	0.323									Cardiofaciocutaneous_syndrome			
FEM1B	10116	broad.mit.edu	37	15	68583129	68583129	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:68583129A>T	uc002arg.2	+	2	2048	c.1433A>T	c.(1432-1434)GAT>GTT	p.D478V	FEM1B_uc002arh.2_Missense_Mutation_p.D398V	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	478					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0						ATTCACCTTGATCCCAGAACT	0.423												
TLE3	7090	broad.mit.edu	37	15	70345628	70345628	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:70345628T>G	uc002asm.2	-	17	3040	c.1921A>C	c.(1921-1923)ACG>CCG	p.T641P	TLE3_uc002ask.2_Missense_Mutation_p.T568P|TLE3_uc002asl.2_Missense_Mutation_p.T641P|TLE3_uc010ukd.1_Missense_Mutation_p.T631P|TLE3_uc010bik.1_Missense_Mutation_p.T222P|TLE3_uc010bil.1_Missense_Mutation_p.T638P|TLE3_uc002asn.2_Missense_Mutation_p.T629P|TLE3_uc002asp.2_Missense_Mutation_p.T633P|TLE3_uc002aso.2_Missense_Mutation_p.T636P	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	641	WD 4.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2						GAGCGCACCGTGTTGTCCAGG	0.612												
THSD4	79875	broad.mit.edu	37	15	72039263	72039263	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:72039263C>T	uc002atb.1	+	12	2202	c.2123C>T	c.(2122-2124)GCC>GTC	p.A708V	THSD4_uc002ate.2_Missense_Mutation_p.A348V	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	708	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CAGGTGTACGCCAACCGCAGC	0.627												
BBS4	585	broad.mit.edu	37	15	73028236	73028236	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:73028236G>A	uc002avb.2	+	14	1220	c.1177G>A	c.(1177-1179)GCC>ACC	p.A393T	BBS4_uc010ukv.1_Missense_Mutation_p.A381T|BBS4_uc002avc.2_Missense_Mutation_p.A221T|BBS4_uc002avd.2_Missense_Mutation_p.A401T	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	393	TPR 10.|Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0						GAACGCCCTGGCCCAATATCA	0.473									Bardet-Biedl_syndrome			
PML	5371	broad.mit.edu	37	15	74315304	74315304	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:74315304G>A	uc002awv.2	+	3	878	c.738G>A	c.(736-738)GCG>GCA	p.A246A	PML_uc002awm.2_Silent_p.A246A|PML_uc002awl.2_Silent_p.A246A|PML_uc002awj.1_Silent_p.A246A|PML_uc002awk.2_Silent_p.A246A|PML_uc002awn.2_Silent_p.A246A|PML_uc002awo.2_Silent_p.A246A|PML_uc002awp.2_Silent_p.A246A|PML_uc002awq.2_Silent_p.A246A|PML_uc002awr.2_Silent_p.A246A|PML_uc002aws.2_Silent_p.A246A|PML_uc002awt.2_Silent_p.A246A|PML_uc002awu.2_Silent_p.A246A|PML_uc010ule.1_Intron|PML_uc002aww.1_Silent_p.A161A|PML_uc002awx.2_Silent_p.A4A|PML_uc002awy.2_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	246	Potential.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						TGACGCAGGCGCTGCAGGAGC	0.677			T	RARA|PAX5	APL|ALL							
STRA6	64220	broad.mit.edu	37	15	74490099	74490099	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:74490099C>T	uc002axk.2	-	3	356	c.174G>A	c.(172-174)TCG>TCA	p.S58S	STRA6_uc002axi.2_5'Flank|STRA6_uc010ulh.1_Silent_p.S96S|STRA6_uc002axj.2_Silent_p.S97S|STRA6_uc010bji.2_Silent_p.S58S|STRA6_uc002axl.2_5'UTR|STRA6_uc002axm.2_Silent_p.S58S|STRA6_uc002axn.2_Silent_p.S58S|STRA6_uc010uli.1_Silent_p.S95S|STRA6_uc010bjj.1_RNA|STRA6_uc010bjk.2_Silent_p.S58S	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	58	Helical; (Potential).				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1						TCACTGACAGCGAGGCCAGGC	0.652												
CCDC33	80125	broad.mit.edu	37	15	74536466	74536466	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:74536466C>T	uc002axo.2	+	2	556	c.162C>T	c.(160-162)TCC>TCT	p.S54S		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	257	C2.						protein binding			ovary(3)|skin(2)	5						AGGATGGCTCCGAGCCGTGGC	0.587												
CLK3	1198	broad.mit.edu	37	15	74912515	74912515	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:74912515T>C	uc010uln.1	+	3	1223	c.762T>C	c.(760-762)CAT>CAC	p.H254H	CLK3_uc002ayg.3_Silent_p.H106H|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Silent_p.H254H|CLK3_uc002ayj.3_Silent_p.H106H|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	254	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						CCCGCAAGCATGCCCACCACT	0.612												
CYP1A2	1544	broad.mit.edu	37	15	75042486	75042486	+	Missense_Mutation	SNP	G	G	A	rs150893756	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:75042486G>A	uc002ayr.1	+	2	471	c.407G>A	c.(406-408)CGC>CAC	p.R136H		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	136					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TGGGCTGCCCGCCGGCGCCTG	0.617												
CYP1A2	1544	broad.mit.edu	37	15	75047412	75047412	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:75047412C>T	uc002ayr.1	+	7	1598	c.1534C>T	c.(1534-1536)CGC>TGC	p.R512C		NM_000761	NP_000752	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A,	511				R -> LP (in Ref. 2; AAA35738).	alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			ovary(3)|breast(1)	4					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GGCGCGGCTGCGCTTCTCCAT	0.602												
SCAMP5	192683	broad.mit.edu	37	15	75308975	75308975	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:75308975G>A	uc002azk.1	+	4	340	c.178G>A	c.(178-180)GCG>ACG	p.A60T	SCAMP5_uc002azl.1_Missense_Mutation_p.A60T|SCAMP5_uc002azm.1_Missense_Mutation_p.A60T|SCAMP5_uc002azn.1_Missense_Mutation_p.A60T|SCAMP5_uc010uly.1_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	60	Helical; (Potential).				exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						GGGCTGTCTCGCGTGGCTGAT	0.612												
CSPG4	1464	broad.mit.edu	37	15	75968067	75968067	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:75968067G>A	uc002baw.2	-	10	6886	c.6793C>T	c.(6793-6795)CGC>TGC	p.R2265C		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	2265	Cytoplasmic (Potential).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						AGGCCGTTGCGGGGCTTGGCA	0.652												
CSPG4	1464	broad.mit.edu	37	15	75981657	75981657	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:75981657C>T	uc002baw.2	-	3	1842	c.1749G>A	c.(1747-1749)CCG>CCA	p.P583P		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	583	Extracellular (Potential).|CSPG 2.|Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						AGGCAGAGTCCGGGTCATAGG	0.642												
SGK269	79834	broad.mit.edu	37	15	77426055	77426055	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:77426055T>C	uc002bcm.2	-	5	3677	c.3369A>G	c.(3367-3369)CCA>CCG	p.P1123P		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	1123					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)		TGGGCTGTCGTGGCTGCTTGG	0.453												
CHRNA3	1136	broad.mit.edu	37	15	78894011	78894011	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:78894011C>T	uc002bec.2	-	5	1159	c.973G>A	c.(973-975)GTG>ATG	p.V325M	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.V325M	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	325	Helical; (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						ACGTTGAGCACGAAGACGGTG	0.522												
FAM108C1	58489	broad.mit.edu	37	15	81041945	81041945	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:81041945G>A	uc002bfu.2	+	2	801	c.682G>A	c.(682-684)GCG>ACG	p.A228T	FAM108C1_uc002bft.2_Intron	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN	hypothetical protein LOC58489	228							hydrolase activity				0						TGAATGCGCAGCGGTAATTCT	0.507												
TMC3	342125	broad.mit.edu	37	15	81666342	81666342	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:81666342G>A	uc002bgo.1	-	1	77	c.77C>T	c.(76-78)TCT>TTT	p.S26F	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.S26F	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	26	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2						GAGCAGCAGAGATTCCTGGTA	0.557												
FAM154B	283726	broad.mit.edu	37	15	82564031	82564031	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:82564031T>C	uc002bgv.2	+	2	210	c.141T>C	c.(139-141)GGT>GGC	p.G47G	FAM154B_uc010unr.1_Silent_p.G32G|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	47										skin(2)	2						TTGATCTTGGTACTACCTACA	0.393												
ADAMTSL3	57188	broad.mit.edu	37	15	84651204	84651204	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:84651204T>C	uc002bjz.3	+	21	3048	c.2824T>C	c.(2824-2826)TCT>CCT	p.S942P	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.S942P|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.S942P	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	942	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTCCAGAAATCTCTGATCCA	0.512												
FANCI	55215	broad.mit.edu	37	15	89848354	89848354	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:89848354T>C	uc010bnp.1	+	29	3157	c.3067T>C	c.(3067-3069)TTG>CTG	p.L1023L	FANCI_uc002bnm.1_Silent_p.L963L|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.L784L|FANCI_uc002bnq.1_Silent_p.L436L	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	1023					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGAGGATGCCTTGTTTTGCAA	0.323								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
AP3S2	10239	broad.mit.edu	37	15	90451554	90451554	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:90451554C>T	uc002bos.3	-	3	414	c.259G>A	c.(259-261)GCC>ACC	p.A87T	C15orf38_uc002bot.1_RNA|C15orf38_uc002bou.2_Missense_Mutation_p.A87T	NM_182616	NP_872422	P59780	AP3S2_HUMAN	hypothetical protein LOC348110	Error:Variant_position_missing_in_P59780_after_alignment					intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity				0	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TTCCTGGTGGCGCTGAAGTTG	0.592												
TTLL13	440307	broad.mit.edu	37	15	90799471	90799471	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:90799471G>A	uc002bpd.1	+	6	935	c.647G>A	c.(646-648)CGA>CAA	p.R216Q	TTLL13_uc002bpe.1_Intron	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	216	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TTCATTACCCGAAATCCCCGG	0.547												
TTLL13	440307	broad.mit.edu	37	15	90800412	90800412	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:90800412G>A	uc002bpd.1	+	7	1036	c.748G>A	c.(748-750)GTC>ATC	p.V250I	TTLL13_uc002bpe.1_RNA	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	250	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity				0	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GCGAGTCTACGTCCTGATCAC	0.453												
RGMA	56963	broad.mit.edu	37	15	93595502	93595502	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:93595502C>T	uc002bss.1	-	3	638	c.366G>A	c.(364-366)TCG>TCA	p.S122S	RGMA_uc002bsq.1_Silent_p.S106S|RGMA_uc010boi.1_Silent_p.S13S|RGMA_uc002bsr.1_Silent_p.S13S|RGMA_uc010urc.1_Silent_p.S130S	NM_020211	NP_064596	Q96B86	RGMA_HUMAN	RGM domain family, member A precursor	122					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane					0	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGCGTGGCTGCGAGGTGGGGC	0.667												
PGPEP1L	145814	broad.mit.edu	37	15	99511846	99511846	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:99511846G>A	uc002bum.2	-	5	658	c.452C>T	c.(451-453)TCG>TTG	p.S151L	PGPEP1L_uc010bop.2_Missense_Mutation_p.R96C|PGPEP1L_uc002bun.2_RNA	NM_001102612	NP_001096082	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase 1-like protein	151					proteolysis		cysteine-type peptidase activity				0						GAGCCCGCGCGATAGTGGAGG	0.557												
LRRK1	79705	broad.mit.edu	37	15	101569367	101569367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:101569367C>T	uc002bwr.2	+	20	3212	c.2893C>T	c.(2893-2895)CAG>TAG	p.Q965*	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	965					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)			TGGCTTCACGCAGCAGACGGA	0.552												
LRRK1	79705	broad.mit.edu	37	15	101606891	101606891	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:101606891G>A	uc002bwr.2	+	33	6134	c.5815G>A	c.(5815-5817)GCC>ACC	p.A1939T	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1939					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)			GGATTCTGGCGCCCAGCGGGG	0.582												
SNRPA1	6627	broad.mit.edu	37	15	101821975	101821975	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:101821975T>C	uc002bww.2	-	9	799	c.722A>G	c.(721-723)GAT>GGT	p.D241G	SNRPA1_uc002bwx.2_RNA|SNRPA1_uc010bpc.2_RNA	NM_003090	NP_003081	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	241						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)			TTCTTCACCATCATCAGTGGG	0.333												
AXIN1	8312	broad.mit.edu	37	16	338227	338227	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:338227G>A	uc002cgp.1	-	11	2661	c.2484C>T	c.(2482-2484)AGC>AGT	p.S828S	AXIN1_uc002cgq.1_Silent_p.S792S	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	828	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAAACTCGTCGCTCACTTTCT	0.592												
MRPL28	10573	broad.mit.edu	37	16	418565	418565	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:418565C>T	uc002cgr.1	-	3	528	c.512G>A	c.(511-513)CGG>CAG	p.R171Q	MRPL28_uc010bqu.1_Missense_Mutation_p.R171Q|MRPL28_uc002cgs.1_Missense_Mutation_p.R171Q|MRPL28_uc002cgt.1_Missense_Mutation_p.R171Q	NM_006428	NP_006419	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28 precursor	171					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				GGGGTCCTGCCGGGCAAGCCG	0.662												
RHOT2	89941	broad.mit.edu	37	16	722950	722950	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:722950C>T	uc002cip.2	+	18	1617	c.1550C>T	c.(1549-1551)ACC>ATC	p.T517I	RHOT2_uc002ciq.2_Missense_Mutation_p.T410I|RHOT2_uc010bqy.2_Missense_Mutation_p.T296I|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	517	Miro 2.|Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)				GACGGGCAGACCCCCTGCCTC	0.652												
RPUSD1	113000	broad.mit.edu	37	16	836152	836152	+	Missense_Mutation	SNP	G	G	A	rs147626249		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:836152G>A	uc002cka.2	-	5	971	c.737C>T	c.(736-738)TCG>TTG	p.S246L	RPUSD1_uc002ckb.2_Missense_Mutation_p.S246L|RPUSD1_uc002ckc.2_Missense_Mutation_p.S117L|RPUSD1_uc002ckd.2_3'UTR|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing	246					pseudouridine synthesis		pseudouridine synthase activity|RNA binding				0		Hepatocellular(780;0.00335)				CTGGTCCAGCGACTGCAGCAG	0.711												
TPSD1	23430	broad.mit.edu	37	16	1306669	1306669	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1306669G>A	uc002clb.1	+	2	244	c.235G>A	c.(235-237)GCG>ACG	p.A79T	TPSD1_uc010brm.1_Missense_Mutation_p.A17T	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	79	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GGTGCTAACCGCGGCGCACTG	0.697												
BAIAP3	8938	broad.mit.edu	37	16	1391384	1391384	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1391384T>G	uc002clk.1	+	8	730	c.730T>G	c.(730-732)TTC>GTC	p.F244V	BAIAP3_uc002clj.2_Missense_Mutation_p.F226V|BAIAP3_uc010uuz.1_Missense_Mutation_p.F209V|BAIAP3_uc010uva.1_Missense_Mutation_p.F181V|BAIAP3_uc010uvb.1_Missense_Mutation_p.F261V|BAIAP3_uc010uvc.1_Missense_Mutation_p.F209V	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	244	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				GCGCTTCGGCTTCCGCAAGGG	0.667												
CRAMP1L	57585	broad.mit.edu	37	16	1712579	1712579	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1712579G>A	uc010uvh.1	+	11	2502	c.2502G>A	c.(2500-2502)CCG>CCA	p.P834P	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	834						nucleus	DNA binding				0						TTGCTGTCCCGACAACCTTGC	0.557												
EME2	197342	broad.mit.edu	37	16	1824335	1824335	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1824335C>T	uc002cmq.1	+	3	459	c.459C>T	c.(457-459)GGC>GGT	p.G153G	NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.G153G	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	153					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						TTCTGCAGGGCGTCGCCACAC	0.662								Direct_reversal_of_damage|Homologous_recombination				
SPSB3	90864	broad.mit.edu	37	16	1827312	1827312	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1827312A>C	uc002cmr.2	-	6	887	c.854T>G	c.(853-855)CTG>CGG	p.L285R	SPSB3_uc002cms.2_Missense_Mutation_p.L157R|SPSB3_uc002cmt.2_Missense_Mutation_p.L157R|SPSB3_uc002cmu.2_Missense_Mutation_p.L285R|SPSB3_uc002cmv.2_Missense_Mutation_p.L157R	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	285	SOCS box.				intracellular signal transduction						0						CAGCTGGCGCAGGCGGTGGCA	0.682												
TBC1D24	57465	broad.mit.edu	37	16	2546053	2546053	+	Translation_Start_Site	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:2546053G>T	uc002cql.2	+	2	44	c.-96G>T	c.(-98--94)CAGGT>CATGT		TBC1D24_uc002cqk.2_Translation_Start_Site|TBC1D24_uc002cqm.2_Translation_Start_Site|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24						neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						ATGGCAGACAGGTTTGCAGGA	0.498												
AMDHD2	51005	broad.mit.edu	37	16	2577818	2577818	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:2577818G>A	uc002cqq.2	+	5	557	c.460G>A	c.(460-462)GCG>ACG	p.A154T	AMDHD2_uc002cqp.2_Missense_Mutation_p.A154T|AMDHD2_uc010uwc.1_Missense_Mutation_p.A154T|AMDHD2_uc010uwd.1_5'UTR	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	154				A -> T (in Ref. 1; AAD27723).	N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						GAAGCGGGGCGCGCACCCCGA	0.692												
SRRM2	23524	broad.mit.edu	37	16	2810378	2810378	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:2810378G>A	uc002crk.2	+	10	1459	c.910G>A	c.(910-912)GGG>AGG	p.G304R	SRRM2_uc002crj.1_Missense_Mutation_p.G208R|SRRM2_uc002crl.1_Missense_Mutation_p.G304R|SRRM2_uc010bsu.1_Missense_Mutation_p.G208R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	304	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AGGGCGACGCGGGGAGGGAGA	0.562												
ZNF213	7760	broad.mit.edu	37	16	3191292	3191292	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:3191292G>A	uc010uws.1	+	6	1771	c.1324G>A	c.(1324-1326)GCG>ACG	p.A442T	ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.A442T|ZNF213_uc010uwt.1_3'UTR|uc002cuf.1_5'Flank	NM_004220	NP_004211	O14771	ZN213_HUMAN	zinc finger protein 213	442	C2H2-type 5.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAAGCAGCGCGCGCACCTCAT	0.687												
CORO7	79585	broad.mit.edu	37	16	4463375	4463375	+	Missense_Mutation	SNP	C	C	T	rs143239749	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:4463375C>T	uc002cwh.3	-	2	211	c.91G>A	c.(91-93)GCC>ACC	p.A31T	CORO7_uc002cwf.2_Missense_Mutation_p.A31T|CORO7_uc002cwg.3_5'UTR|CORO7_uc010uxh.1_Missense_Mutation_p.A31T|CORO7_uc010uxi.1_Missense_Mutation_p.A31T|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_5'UTR|CORO7_uc010btr.1_Intron	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	31						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						CATGAAGGGGCGGTTCCTGCT	0.502												
MGRN1	23295	broad.mit.edu	37	16	4700454	4700454	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:4700454T>C	uc002cwz.2	+	2	313	c.177T>C	c.(175-177)GAT>GAC	p.D59D	MGRN1_uc002cxa.2_Silent_p.D59D|MGRN1_uc010btx.2_Silent_p.D59D|MGRN1_uc010btw.2_Silent_p.D59D|MGRN1_uc002cxb.2_Silent_p.D59D|MGRN1_uc010uxo.1_Silent_p.D59D|MGRN1_uc010uxp.1_Silent_p.D59D|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	59					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						AGAACATGGATCTGAACTTCC	0.567												
PPL	5493	broad.mit.edu	37	16	4950862	4950862	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:4950862C>A	uc002cyd.1	-	6	665	c.575G>T	c.(574-576)AGC>ATC	p.S192I		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	192	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CCGGAGTTCGCTGTTCTGCTC	0.667												
BFAR	51283	broad.mit.edu	37	16	14743706	14743706	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:14743706G>A	uc002dco.2	+	4	795	c.514G>A	c.(514-516)GAC>AAC	p.D172N	BFAR_uc002dcm.2_Missense_Mutation_p.D172N|BFAR_uc002dcn.2_Silent_p.T103T|BFAR_uc002dcp.2_Intron|BFAR_uc010uzh.1_Missense_Mutation_p.D44N	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	172	Lumenal (Potential).				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2						ATCTGAACACGACCTCCTGGT	0.552												
NDE1	54820	broad.mit.edu	37	16	15788062	15788062	+	Silent	SNP	G	G	A	rs1123418		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:15788062G>A	uc002ddt.1	+	6	787	c.744G>A	c.(742-744)GCG>GCA	p.A248A	NDE1_uc010uzy.1_Silent_p.A248A|NDE1_uc002dds.2_Silent_p.A248A|NDE1_uc002ddu.1_Silent_p.A185A	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	248	Interaction with CENPF (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1						TCACACCTGCGGCCCGGATAT	0.572												
MYH11	4629	broad.mit.edu	37	16	15811163	15811163	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:15811163C>T	uc002ddy.2	-	38	5445	c.5338G>A	c.(5338-5340)GCC>ACC	p.A1780T	MYH11_uc002ddv.2_Missense_Mutation_p.A1787T|MYH11_uc002ddw.2_Missense_Mutation_p.A1780T|MYH11_uc002ddx.2_Missense_Mutation_p.A1787T|MYH11_uc010bvg.2_Missense_Mutation_p.A1612T|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.A486T	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1780	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TTCTTCTGGGCCGTGCTGCGC	0.637			T	CBFB	AML							
MYH11	4629	broad.mit.edu	37	16	15814829	15814829	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:15814829T>C	uc002ddy.2	-	33	4765	c.4658A>G	c.(4657-4659)GAC>GGC	p.D1553G	MYH11_uc002ddv.2_Missense_Mutation_p.D1560G|MYH11_uc002ddw.2_Missense_Mutation_p.D1553G|MYH11_uc002ddx.2_Missense_Mutation_p.D1560G|MYH11_uc010bvg.2_Missense_Mutation_p.D1385G|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.D259G|NDE1_uc002ddz.1_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1553	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TTGCAGCTCGTCCTCCAGCTC	0.637			T	CBFB	AML							
MYH11	4629	broad.mit.edu	37	16	15853542	15853542	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:15853542C>T	uc002ddy.2	-	12	1399	c.1292G>A	c.(1291-1293)CGC>CAC	p.R431H	MYH11_uc002ddv.2_Missense_Mutation_p.R438H|MYH11_uc002ddw.2_Missense_Mutation_p.R431H|MYH11_uc002ddx.2_Missense_Mutation_p.R438H|MYH11_uc010bvg.2_Missense_Mutation_p.R263H|MYH11_uc002dea.1_Missense_Mutation_p.R137H	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	431	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GCGGAAAAGGCGCTCATATGT	0.537			T	CBFB	AML							
ABCC6	368	broad.mit.edu	37	16	16267261	16267261	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:16267261C>T	uc002den.3	-	21	2704	c.2667G>A	c.(2665-2667)AGG>AGA	p.R889R	ABCC6_uc010bvo.2_RNA	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	889	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ACTTGATGGACCTGTCATTTA	0.542												
XYLT1	64131	broad.mit.edu	37	16	17202689	17202689	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:17202689T>C	uc002dfa.2	-	12	2828	c.2743A>G	c.(2743-2745)ACT>GCT	p.T915A		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	915	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						TCCATGGCAGTCCACATCCCG	0.677												
SYT17	51760	broad.mit.edu	37	16	19278340	19278340	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:19278340G>A	uc002dfw.2	+	8	1698	c.1367G>A	c.(1366-1368)AGC>AAC	p.S456N	SYT17_uc002dfx.2_Missense_Mutation_p.S395N|SYT17_uc002dfy.2_Missense_Mutation_p.S452N	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	456						membrane|synaptic vesicle	transporter activity			ovary(1)	1						CAGTGGCATAGCCTGAGGTCC	0.577												
PDILT	204474	broad.mit.edu	37	16	20380924	20380924	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:20380924C>T	uc002dhc.1	-	8	1229	c.1006G>A	c.(1006-1008)GTC>ATC	p.V336I		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	336					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						AGGATTTGGACGGATGGGATA	0.468												
UQCRC2	7385	broad.mit.edu	37	16	21983256	21983256	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:21983256A>T	uc002djx.2	+	10	915	c.779A>T	c.(778-780)GAA>GTA	p.E260V	UQCRC2_uc002djy.2_Missense_Mutation_p.E260V|UQCRC2_uc010bxa.2_RNA|UQCRC2_uc002djz.1_Missense_Mutation_p.E127V	NM_003366	NP_003357	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	260					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2				GBM - Glioblastoma multiforme(48;0.0264)		GAAATCCGAGAACAGAATGGA	0.448												
USP31	57478	broad.mit.edu	37	16	23091276	23091276	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:23091276G>A	uc002dll.2	-	13	2167	c.2167C>T	c.(2167-2169)CAC>TAC	p.H723Y	USP31_uc010bxm.2_Intron	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	723		Proton acceptor (By similarity).			ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		CCTGTGTAGTGCCCCCCTTGC	0.572												
USP31	57478	broad.mit.edu	37	16	23096246	23096246	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:23096246G>T	uc002dll.2	-	11	1765	c.1765C>A	c.(1765-1767)CGT>AGT	p.R589S	USP31_uc010bxm.2_5'UTR	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	589					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TGATGATGACGCTCCCTTTGC	0.458												
PALB2	79728	broad.mit.edu	37	16	23614847	23614847	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:23614847G>A	uc002dlx.1	-	13	3694	c.3494C>T	c.(3493-3495)TCG>TTG	p.S1165L		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1165	Interaction with RAD51 and BRCA2.|WD 7.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		GTCTGTACCCGACCATTTCAC	0.413			F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			
GTF3C1	2975	broad.mit.edu	37	16	27539991	27539991	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:27539991C>T	uc002dov.1	-	6	941	c.901G>A	c.(901-903)GGG>AGG	p.G301R	GTF3C1_uc002dou.2_Missense_Mutation_p.G301R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	301						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TTGGCTAGCCCGGCGTTCAGC	0.483												
KIAA0556	23247	broad.mit.edu	37	16	27784524	27784524	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:27784524G>A	uc002dow.2	+	23	4327	c.4303G>A	c.(4303-4305)GAA>AAA	p.E1435K		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1435										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CCCCTTGTCGGAAAACAGTAT	0.567												
XPO6	23214	broad.mit.edu	37	16	28117503	28117503	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:28117503C>T	uc002dpa.1	-	20	3146	c.2645G>A	c.(2644-2646)GGC>GAC	p.G882D	XPO6_uc002dpb.1_Missense_Mutation_p.G868D|XPO6_uc010vcp.1_Missense_Mutation_p.G882D	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	882					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						GCCTGTGCTGCCCTCGTGGAG	0.582												
XPO6	23214	broad.mit.edu	37	16	28145176	28145176	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:28145176C>T	uc002dpa.1	-	11	2023	c.1522G>A	c.(1522-1524)GCC>ACC	p.A508T	XPO6_uc002dpb.1_Missense_Mutation_p.A494T|XPO6_uc010vcp.1_Missense_Mutation_p.A508T	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	508					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						GTGGAGAAGGCGTGCGTGGGC	0.582												
APOB48R	55911	broad.mit.edu	37	16	28509138	28509138	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:28509138G>A	uc002dqb.1	+	3	2759	c.2749G>A	c.(2749-2751)GGG>AGG	p.G917R	uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.G455R	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	917	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						CATGGTGACCGGGGGCCGGAG	0.637												
IL27	246778	broad.mit.edu	37	16	28511129	28511129	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:28511129G>A	uc002dqc.2	-	5	598	c.575C>T	c.(574-576)CCG>CTG	p.P192L	uc010vct.1_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	interleukin 27 precursor	192					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding				0						CACCTGGGCCGGGCCCTGTAA	0.532												
ATP2A1	487	broad.mit.edu	37	16	28906263	28906263	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:28906263G>A	uc002dro.1	+	12	1592	c.1408G>A	c.(1408-1410)GCC>ACC	p.A470T	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.A470T|ATP2A1_uc002drp.1_Missense_Mutation_p.A345T	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	470	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GAGAGCCAACGCCTGCAACTC	0.612												
C16orf53	79447	broad.mit.edu	37	16	29828545	29828545	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:29828545C>T	uc002dug.3	+	2	816	c.497C>T	c.(496-498)ACG>ATG	p.T166M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	PTIP-associated 1 protein	166											0						CACATGCCCACGGAATTTGAT	0.572											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TAOK2	9344	broad.mit.edu	37	16	29999115	29999115	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:29999115G>A	uc002dva.1	+	16	4305	c.3522G>A	c.(3520-3522)CCG>CCA	p.P1174P	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Silent_p.P1181P|TAOK2_uc002dvd.1_Silent_p.P1001P	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1174	Helical; (Potential).				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						ACTTGCCCCCGTGGGCCATCC	0.667												
GDPD3	79153	broad.mit.edu	37	16	30124065	30124065	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30124065G>A	uc002dwp.2	-	3	311	c.232C>T	c.(232-234)CGG>TGG	p.R78W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.R16W|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	78	Extracellular (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						ACTCTGTCCCGTGTCAGCTGA	0.662											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF785	146540	broad.mit.edu	37	16	30593992	30593992	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30593992G>A	uc002dyw.1	-	3	1185	c.1107C>T	c.(1105-1107)CGC>CGT	p.R369R	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Silent_p.R354R|ZNF785_uc010vez.1_Silent_p.R334R	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCTGCCACGCGCGCCTCTCGC	0.627												
PRR14	78994	broad.mit.edu	37	16	30666220	30666220	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30666220G>A	uc002dyy.2	+	8	1187	c.929G>A	c.(928-930)CGC>CAC	p.R310H	PRR14_uc002dyz.2_Missense_Mutation_p.R155H|PRR14_uc002dza.2_Missense_Mutation_p.R310H|PRR14_uc002dzb.1_Missense_Mutation_p.R124H	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	310	Pro-rich.										0			Colorectal(24;0.103)			CCCCCAATCCGCCAGTGGCGA	0.647												
SRCAP	10847	broad.mit.edu	37	16	30723463	30723463	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30723463G>A	uc002dze.1	+	12	2185	c.1800G>A	c.(1798-1800)ACG>ACA	p.T600T	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.T457T|SRCAP_uc010bzz.1_Silent_p.T170T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	600					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGGGTTACACGCTGGCCACGA	0.522												
RNF40	9810	broad.mit.edu	37	16	30779279	30779279	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30779279A>G	uc002dzq.2	+	12	1617	c.1494A>G	c.(1492-1494)AAA>AAG	p.K498K	RNF40_uc010caa.2_Silent_p.K498K|RNF40_uc010cab.2_Silent_p.K398K|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.K498K|RNF40_uc010vfb.1_Silent_p.K190K|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	498	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			ACCAGCTAAAAGGGGACGCCC	0.532												
ZNF646	9726	broad.mit.edu	37	16	31092480	31092480	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31092480G>A	uc002eap.2	+	2	5124	c.4835G>A	c.(4834-4836)AGC>AAC	p.S1612N		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CGGGGCCACAGCCAGGTGCCA	0.642												
MYST1	84148	broad.mit.edu	37	16	31138555	31138555	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31138555G>A	uc002eay.2	+	5	580	c.562G>A	c.(562-564)GAA>AAA	p.E188K	MYST1_uc002eax.2_Missense_Mutation_p.E188K|MYST1_uc002eaz.2_Missense_Mutation_p.E30K|MYST1_uc002eba.2_5'UTR|MYST1_uc002ebb.2_5'Flank	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN	MYST histone acetyltransferase 1 isoform 1	188					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding			ovary(1)	1						CGGGAACTACGAAATTGATGC	0.532												
TRIM72	493829	broad.mit.edu	37	16	31232241	31232241	+	Splice_Site	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31232241T>C	uc002ebn.1	+	5	969	c.740_splice	c.e5+2	p.R247_splice		NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72						exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						GACCAGCAGGTGAGAGCAACC	0.552												
ITGAM	3684	broad.mit.edu	37	16	31283278	31283278	+	Silent	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31283278G>T	uc002ebq.2	+	7	767	c.669G>T	c.(667-669)GGG>GGT	p.G223G	ITGAM_uc002ebr.2_Silent_p.G223G	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	223	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						AGCTGCTTGGGCGGACACACA	0.512												
ITGAM	3684	broad.mit.edu	37	16	31284825	31284825	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31284825C>T	uc002ebq.2	+	8	942	c.844C>T	c.(844-846)CGC>TGC	p.R282C	ITGAM_uc002ebr.2_Missense_Mutation_p.R282C|ITGAM_uc010cam.1_5'Flank	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	282	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GGGAGTCATTCGCTACGTCAT	0.463												
ARMC5	79798	broad.mit.edu	37	16	31477235	31477235	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31477235G>A	uc002ecc.2	+	5	2458	c.1929G>A	c.(1927-1929)ACG>ACA	p.T643T	ARMC5_uc010vfn.1_Silent_p.T738T|ARMC5_uc010vfo.1_Silent_p.T675T|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Silent_p.T451T|ARMC5_uc002ecb.2_Silent_p.T643T	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	643							binding			pancreas(1)	1						GGGCCCTGACGCACCTGCTGC	0.652												
C16orf58	64755	broad.mit.edu	37	16	31510649	31510649	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31510649T>C	uc002eci.1	-	5	586	c.574A>G	c.(574-576)ACC>GCC	p.T192A	C16orf58_uc010vfq.1_Missense_Mutation_p.T50A	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	hypothetical protein LOC64755	192						integral to membrane				ovary(1)|breast(1)	2						GTGGAGACGGTCATGGTGAAA	0.527												
ZNF267	10308	broad.mit.edu	37	16	31927586	31927586	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31927586G>A	uc002ecs.3	+	4	2225	c.2016G>A	c.(2014-2016)AGG>AGA	p.R672R		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	672	C2H2-type 13.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TCAACTCTAGGTCATACCTCA	0.438												
VPS35	55737	broad.mit.edu	37	16	46714715	46714715	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:46714715G>T	uc002eef.3	-	5	473	c.374C>A	c.(373-375)TCC>TAC	p.S125Y	VPS35_uc002eed.2_5'Flank|VPS35_uc002eee.2_Missense_Mutation_p.S86Y	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	125					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATCCTTCCTGGACTGAGGAAA	0.363												
N4BP1	9683	broad.mit.edu	37	16	48594921	48594921	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:48594921G>A	uc002efp.2	-	2	1870	c.1633C>T	c.(1633-1635)CGT>TGT	p.R545C		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	545					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)				CATCCTAAACGTTTTTCACAG	0.448												
ZNF423	23090	broad.mit.edu	37	16	49670430	49670430	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:49670430T>C	uc002efs.2	-	5	2931	c.2633A>G	c.(2632-2634)GAC>GGC	p.D878G	ZNF423_uc010vgn.1_Missense_Mutation_p.D761G	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	878					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				CGCGTCCACGTCATCCTCGCT	0.607												
IRX6	79190	broad.mit.edu	37	16	55358985	55358985	+	Translation_Start_Site	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:55358985C>T	uc002ehy.2	+	1	515	c.-18C>T	c.(-20--16)GACGG>GATGG		IRX6_uc002ehx.2_Translation_Start_Site|IRX6_uc010ccb.1_5'Flank	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						AAGAGAGAGACGGGCCAGGGA	0.642												
CES7	221223	broad.mit.edu	37	16	55903594	55903594	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:55903594G>A	uc002eip.2	-	4	629	c.480C>T	c.(478-480)TCC>TCT	p.S160S	CES7_uc002eio.2_Silent_p.S160S|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.S54S	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	160						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		CAGCCAGGGCGGACCCATCAA	0.562												
NLRC5	84166	broad.mit.edu	37	16	57060576	57060576	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:57060576G>A	uc002ekk.1	+	6	1946	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R379H|NLRC5_uc002ekl.2_Missense_Mutation_p.R379H|NLRC5_uc002ekm.2_Missense_Mutation_p.R379H|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	574					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				TGCACCTGCCGCCCCTTCCTT	0.632												
NLRC5	84166	broad.mit.edu	37	16	57060597	57060597	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:57060597C>T	uc002ekk.1	+	6	1967	c.1742C>T	c.(1741-1743)GCG>GTG	p.A581V	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.A386V|NLRC5_uc002ekl.2_Missense_Mutation_p.A386V|NLRC5_uc002ekm.2_Missense_Mutation_p.A386V|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	581					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				AGCCACCTGGCGCAGGGCAAT	0.622												
POLR2C	5432	broad.mit.edu	37	16	57503122	57503122	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:57503122A>G	uc002elt.1	+	5	390	c.304A>G	c.(304-306)ACC>GCC	p.T102A	POLR2C_uc010vhq.1_Missense_Mutation_p.T102A	NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	102					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0						GGTGGAGTTCACCCTCGATGT	0.582												
GPR56	9289	broad.mit.edu	37	16	57695814	57695814	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:57695814T>A	uc002emb.2	+	14	2180	c.1888T>A	c.(1888-1890)TTT>ATT	p.F630I	GPR56_uc002ema.1_Missense_Mutation_p.F455I|GPR56_uc002emc.2_Missense_Mutation_p.F624I|GPR56_uc002emf.2_Missense_Mutation_p.F624I|GPR56_uc010vhs.1_Missense_Mutation_p.F630I|GPR56_uc002emd.2_Missense_Mutation_p.F624I|GPR56_uc002eme.2_Missense_Mutation_p.F624I|GPR56_uc010vht.1_Missense_Mutation_p.F629I|GPR56_uc002emg.3_Missense_Mutation_p.F624I|GPR56_uc010vhu.1_Missense_Mutation_p.F449I	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	630	Helical; Name=6; (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						CTTCTTCTCCTTTGCTTCTGG	0.597												
CNGB1	1258	broad.mit.edu	37	16	57918222	57918222	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:57918222G>A	uc002emt.2	-	33	3667	c.3602C>T	c.(3601-3603)CCG>CTG	p.P1201L	CNGB1_uc010cdh.2_Missense_Mutation_p.P1195L	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1201	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						GGAGGCAGGCGGTGGAGAGCT	0.761												
C16orf80	29105	broad.mit.edu	37	16	58149340	58149340	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:58149340G>A	uc002enb.1	-	4	575	c.298C>T	c.(298-300)CGT>TGT	p.R100C		NM_013242	NP_037374	Q9Y6A4	CP080_HUMAN	transcription factor IIB	100					multicellular organismal development						0						AAGCGACGACGCACATTCTTG	0.512												
PRSS54	221191	broad.mit.edu	37	16	58314269	58314269	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:58314269C>T	uc002enf.2	-	7	1442	c.1047G>A	c.(1045-1047)GCG>GCA	p.A349A	PRSS54_uc002eng.2_Silent_p.A349A|PRSS54_uc010vie.1_Silent_p.A250A|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	349					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GTTGTACAGACGCCTCAGGAG	0.468												
CA7	766	broad.mit.edu	37	16	66881124	66881124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:66881124C>T	uc002eqi.2	+	2	341	c.232C>T	c.(232-234)CGA>TGA	p.R78*	uc002eqh.2_Intron|CA7_uc002eqj.2_Nonsense_Mutation_p.R22*	NM_005182	NP_005173	P43166	CAH7_HUMAN	carbonic anhydrase VII isoform 1	78					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CAGCGATGACCGAACCGGTAA	0.582												
CTCF	10664	broad.mit.edu	37	16	67662409	67662409	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:67662409C>A	uc002etl.2	+	9	1945	c.1655C>A	c.(1654-1656)CCT>CAT	p.P552H	CTCF_uc010cek.2_Missense_Mutation_p.P224H|CTCF_uc002etm.1_Missense_Mutation_p.P41H	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	552					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)		AACTTCGTCCCTGCGGCTTTT	0.498												
EDC4	23644	broad.mit.edu	37	16	67914081	67914081	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:67914081G>A	uc002eur.2	+	17	2225	c.2059G>A	c.(2059-2061)GCC>ACC	p.A687T	EDC4_uc010cer.2_Missense_Mutation_p.A306T|EDC4_uc010vkg.1_Missense_Mutation_p.A619T|EDC4_uc002eus.2_Missense_Mutation_p.A417T|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	687					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCTGCTCCCAGCCCCAGCTGA	0.657												
WWP2	11060	broad.mit.edu	37	16	69942692	69942692	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:69942692C>T	uc002exu.1	+	10	1032	c.943C>T	c.(943-945)CGT>TGT	p.R315C	WWP2_uc002ext.2_Missense_Mutation_p.R315C|WWP2_uc002exv.1_Missense_Mutation_p.R315C|WWP2_uc010vlm.1_Missense_Mutation_p.R199C	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	315	WW 1.				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			lung(3)|ovary(1)|breast(1)|skin(1)	6						GCCCAACGGACGTGTCTATTA	0.517												
WWP2	11060	broad.mit.edu	37	16	69963368	69963368	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:69963368G>T	uc002exu.1	+	13	1341	c.1252G>T	c.(1252-1254)GGA>TGA	p.G418*	WWP2_uc002exv.1_Nonsense_Mutation_p.G418*|WWP2_uc010vlm.1_Nonsense_Mutation_p.G302*|WWP2_uc010vln.1_Nonsense_Mutation_p.G36*|WWP2_uc002exw.1_5'UTR	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	418	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			lung(3)|ovary(1)|breast(1)|skin(1)	6						ACAGGACAATGGACGGGTGTA	0.577											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FUK	197258	broad.mit.edu	37	16	70501297	70501297	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:70501297C>T	uc002eyy.2	+	7	563	c.505C>T	c.(505-507)CGG>TGG	p.R169W	FUK_uc010vmb.1_3'UTR|FUK_uc010cft.2_Missense_Mutation_p.R201W|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	169						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				GGACAGCTTCCGGGGAGCCAG	0.652												
PHLPP2	23035	broad.mit.edu	37	16	71690580	71690580	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:71690580T>C	uc002fax.2	-	15	2290	c.2284A>G	c.(2284-2286)ATC>GTC	p.I762V	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.I695V	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	762						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						AGGGTTGTGATATGGCTGTGG	0.368												
ZFHX3	463	broad.mit.edu	37	16	72992888	72992888	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:72992888C>T	uc002fck.2	-	2	1830	c.1157G>A	c.(1156-1158)GGC>GAC	p.G386D	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	386					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CTGCTCGGGGCCAGCGGCGGA	0.602												
BCAR1	9564	broad.mit.edu	37	16	75263765	75263765	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:75263765C>T	uc002fdv.2	-	7	2380	c.2257G>A	c.(2257-2259)GCC>ACC	p.A753T	BCAR1_uc002fdt.2_Missense_Mutation_p.A206T|BCAR1_uc002fdu.2_Missense_Mutation_p.A543T|BCAR1_uc010cgu.2_Missense_Mutation_p.A742T|BCAR1_uc010vna.1_Missense_Mutation_p.A751T|BCAR1_uc010vnb.1_Missense_Mutation_p.A799T|BCAR1_uc002fdw.2_Missense_Mutation_p.A753T|BCAR1_uc010vnc.1_Missense_Mutation_p.A605T|BCAR1_uc010vnd.1_Missense_Mutation_p.A771T|BCAR1_uc002fdx.2_Missense_Mutation_p.A771T	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	753	Divergent helix-loop-helix motif.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTCAGGTTGGCCTCACACTGC	0.662												
CNTNAP4	85445	broad.mit.edu	37	16	76555939	76555939	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:76555939C>T	uc002feu.1	+	19	2925	c.2540C>T	c.(2539-2541)CCG>CTG	p.P847L	CNTNAP4_uc002fev.1_Missense_Mutation_p.P711L|CNTNAP4_uc010chb.1_Missense_Mutation_p.P774L|CNTNAP4_uc002fex.1_Missense_Mutation_p.P850L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	847	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						TTTCCAGCTCCGACAGTAGTG	0.458												
PKD1L2	114780	broad.mit.edu	37	16	81249919	81249919	+	Missense_Mutation	SNP	C	C	T	rs117142104	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:81249919C>T	uc002fgh.1	-	2	394	c.394G>A	c.(394-396)GGG>AGG	p.G132R	PKD1L2_uc002fgj.2_Missense_Mutation_p.G132R	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	132	Extracellular (Potential).|C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGGCCTCTCCCGATGTGGCCG	0.652												
PKD1L2	114780	broad.mit.edu	37	16	81253808	81253808	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:81253808G>A	uc002fgh.1	-	1	168	c.168C>T	c.(166-168)TGC>TGT	p.C56C	PKD1L2_uc002fgj.2_Silent_p.C56C	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	56	Extracellular (Potential).|C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CTTGCCCCTCGCACCAGCTCT	0.552												
PLCG2	5336	broad.mit.edu	37	16	81934352	81934352	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:81934352G>A	uc002fgt.2	+	14	1481	c.1329G>A	c.(1327-1329)TCG>TCA	p.S443S	PLCG2_uc010chg.1_Silent_p.S443S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	443	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						AGCTGCCCTCGCCCAGCCAGC	0.637												
PLCG2	5336	broad.mit.edu	37	16	81944173	81944173	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:81944173C>T	uc002fgt.2	+	18	1934	c.1782C>T	c.(1780-1782)GGC>GGT	p.G594G	PLCG2_uc010chg.1_Silent_p.G594G	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	594	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						CCATGGAGGGCGGGACCCTGA	0.642												
PLCG2	5336	broad.mit.edu	37	16	81965249	81965249	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:81965249T>A	uc002fgt.2	+	25	2881	c.2729T>A	c.(2728-2730)ATT>AAT	p.I910N		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	910					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						ACCTGGAAGATTGACACCAAG	0.607												
MLYCD	23417	broad.mit.edu	37	16	83948976	83948976	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:83948976G>A	uc002fgz.2	+	5	1384	c.1364G>A	c.(1363-1365)CGC>CAC	p.R455H		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	455					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0						GCCAACTACCGCTACTTCCTG	0.612												
TAF1C	9013	broad.mit.edu	37	16	84218535	84218535	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:84218535G>A	uc002fhn.2	-	2	288	c.60C>T	c.(58-60)AGC>AGT	p.S20S	TAF1C_uc002fhm.2_Intron|TAF1C_uc010vnx.1_Silent_p.S20S|TAF1C_uc010vny.1_Intron|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.S20S	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	20					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						CAGGGACGTCGCTCAGACCAA	0.627												
USP10	9100	broad.mit.edu	37	16	84806195	84806195	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:84806195G>A	uc002fii.2	+	12	2189	c.2047G>A	c.(2047-2049)GTG>ATG	p.V683M	USP10_uc010voe.1_Missense_Mutation_p.V687M|USP10_uc010vof.1_Missense_Mutation_p.V245M|USP10_uc002fij.2_Missense_Mutation_p.V209M	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	683					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						TCCTGTCCTCGTGCTGCACCT	0.448												
IRF8	3394	broad.mit.edu	37	16	85948086	85948086	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:85948086G>A	uc002fjh.2	+	6	618	c.561G>A	c.(559-561)CCG>CCA	p.P187P	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	187					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|ovary(1)	3		Prostate(104;0.0771)				CAGGCGTGCCGCTGGTGACGG	0.572												
SLC7A5	8140	broad.mit.edu	37	16	87872417	87872417	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:87872417C>T	uc002fkm.2	-	6	1018	c.946G>A	c.(946-948)GGG>AGG	p.G316R		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	316					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)		TGATAGTTCCCGAAGTCCTAG	0.667												
GALNS	2588	broad.mit.edu	37	16	88901652	88901652	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:88901652G>A	uc002fly.3	-	8	956	c.867C>T	c.(865-867)AAC>AAT	p.N289N	GALNS_uc010cid.2_Silent_p.N295N|GALNS_uc002flz.3_Translation_Start_Site	NM_000512	NP_000503	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	289		Calcium (By similarity).				lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GGGCAGCGCCGTTGTCCGACG	0.602												
TUBB3	10381	broad.mit.edu	37	16	90001817	90001817	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:90001817C>T	uc002fph.1	+	4	1023	c.958C>T	c.(958-960)CGC>TGC	p.R320C	TUBB3_uc002fpf.2_Missense_Mutation_p.R667C|TUBB3_uc010ciz.1_Missense_Mutation_p.R248C|TUBB3_uc002fpg.1_Missense_Mutation_p.R174C|TUBB3_uc002fpi.1_Missense_Mutation_p.R248C|TUBB3_uc002fpj.1_Missense_Mutation_p.R248C|TUBB3_uc010cjb.1_Missense_Mutation_p.R174C|TUBB3_uc002fpk.1_Missense_Mutation_p.R174C	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	320					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GTTCCGGGGCCGCATGTCCAT	0.632												
NXN	64359	broad.mit.edu	37	17	708453	708453	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:708453G>A	uc002fsa.2	-	6	947	c.855C>T	c.(853-855)GGC>GGT	p.G285G	NXN_uc010vqd.1_Intron|NXN_uc002frz.2_Silent_p.G36G|NXN_uc010vqe.1_Silent_p.G177G	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	285	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TGATCACCTCGCCCTGCGGGT	0.701												
TUSC5	286753	broad.mit.edu	37	17	1183640	1183640	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:1183640C>T	uc002fsi.1	+	1	684	c.345C>T	c.(343-345)CCC>CCT	p.P115P		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	LOST1	115	Helical; (Potential).				response to biotic stimulus	integral to membrane		p.P115S(1)		skin(2)	2				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTTCTGCCCCGTCTGGCCCC	0.617												
SMG6	23293	broad.mit.edu	37	17	2200581	2200581	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:2200581A>G	uc002fub.1	-	4	2162	c.2107T>C	c.(2107-2109)TAC>CAC	p.Y703H		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	703					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						CCATCCATGTAGTCTTCCAGT	0.318												
RAP1GAP2	23108	broad.mit.edu	37	17	2894595	2894595	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:2894595T>C	uc010ckd.2	+	12	908	c.818T>C	c.(817-819)CTG>CCG	p.L273P	RAP1GAP2_uc010cke.2_Missense_Mutation_p.L258P	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	273	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1						TTTCAGACCCTGGAGGAGGAG	0.478												
OR1D2	4991	broad.mit.edu	37	17	2996177	2996177	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:2996177C>T	uc010vrb.1	-	1	114	c.114G>A	c.(112-114)ACG>ACA	p.T38T		NM_002548	NP_002539	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D,	38	Helical; Name=1; (Potential).				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TTCCCACCACCGTGACCAGGT	0.552												
ASPA	443	broad.mit.edu	37	17	3402247	3402247	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:3402247G>A	uc010ckg.2	+	7	898	c.807G>A	c.(805-807)ACG>ACA	p.T269T	SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Silent_p.T269T	NM_001128085	NP_001121557	P45381	ACY2_HUMAN	aspartoacylase	269					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	ATGGGAAGACGATCCCACTGG	0.428												
ATP2A3	489	broad.mit.edu	37	17	3851105	3851105	+	Silent	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:3851105G>T	uc002fxb.1	-	8	826	c.675C>A	c.(673-675)GCC>GCA	p.A225A	ATP2A3_uc002fwx.1_Silent_p.A225A|ATP2A3_uc002fwy.1_Silent_p.A225A|ATP2A3_uc002fwz.1_Silent_p.A225A|ATP2A3_uc002fxa.1_Silent_p.A225A|ATP2A3_uc002fxc.1_Silent_p.A225A|ATP2A3_uc002fxd.1_Silent_p.A225A	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	225	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCAGGCCGGTGGCCACGGCCA	0.672												
SMTNL2	342527	broad.mit.edu	37	17	4497136	4497136	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:4497136G>A	uc002fyf.1	+	4	817	c.750G>A	c.(748-750)ACG>ACA	p.T250T	SMTNL2_uc002fye.2_Silent_p.T106T	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	250											0				READ - Rectum adenocarcinoma(115;0.0325)		CCTCTTTCACGTGGTCTGTGC	0.592												
ZMYND15	84225	broad.mit.edu	37	17	4646665	4646665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:4646665G>A	uc002fyt.2	+	6	1251	c.1212G>A	c.(1210-1212)TGG>TGA	p.W404*	ZMYND15_uc002fyv.2_Nonsense_Mutation_p.W404*|ZMYND15_uc002fyu.2_Nonsense_Mutation_p.W404*	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	404							zinc ion binding				0						GTGGCTATTGGACCCAGCTCA	0.612												
RPAIN	84268	broad.mit.edu	37	17	5329385	5329385	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:5329385C>T	uc002gbq.2	+	4	978	c.408C>T	c.(406-408)ATC>ATT	p.I136I	RPAIN_uc010vsz.1_Silent_p.I136I|RPAIN_uc002gbp.1_Intron|RPAIN_uc010vta.1_Intron|RPAIN_uc010vtb.1_Silent_p.I136I|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Silent_p.I136I|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank	NM_001033002	NP_001028174	Q86UA6	RIP_HUMAN	RPA interacting protein isoform b	136					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding				0						ACCCACTCATCTGTCCTGTAT	0.458												
AIPL1	23746	broad.mit.edu	37	17	6328845	6328845	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:6328845C>T	uc002gcp.2	-	6	1185	c.1090G>A	c.(1090-1092)GCA>ACA	p.A364T	AIPL1_uc002gcq.2_Missense_Mutation_p.A304T|AIPL1_uc002gcr.2_Missense_Mutation_p.A301T|AIPL1_uc010clk.2_Missense_Mutation_p.A342T|AIPL1_uc010cll.2_Missense_Mutation_p.A340T|AIPL1_uc002gcs.2_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	364					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		gggggccctgcggacagctct	0.269												
FBXO39	162517	broad.mit.edu	37	17	6690183	6690183	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:6690183T>A	uc010vtg.1	+	3	1228	c.1108T>A	c.(1108-1110)TAC>AAC	p.Y370N	FBXO39_uc010cls.1_RNA	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	370										ovary(1)|skin(1)	2						GAAGTTGTTTTACTTCAAAAT	0.453												
NLGN2	57555	broad.mit.edu	37	17	7320376	7320376	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7320376T>C	uc002ggt.1	+	7	1839	c.1766T>C	c.(1765-1767)GTG>GCG	p.V589A		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	589	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				AAGCCACGCGTGCGTGACAAC	0.587												
POLR2A	5430	broad.mit.edu	37	17	7415852	7415852	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7415852A>G	uc002ghf.3	+	27	4783	c.4549A>G	c.(4549-4551)ATG>GTG	p.M1517V		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1517					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				CTCTCCTGCCATGACACCTTG	0.572												
POLR2A	5430	broad.mit.edu	37	17	7417070	7417070	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7417070G>A	uc002ghf.3	+	29	5721	c.5487G>A	c.(5485-5487)TCG>TCA	p.S1829S		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1829	34.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				gccccagctcgcccagctaca	0.443												
TP53	7157	broad.mit.edu	37	17	7578424	7578424	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7578424A>G	uc002gim.2	-	5	700	c.506T>C	c.(505-507)ATG>ACG	p.M169T	TP53_uc002gig.1_Missense_Mutation_p.M169T|TP53_uc002gih.2_Missense_Mutation_p.M169T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M37T|TP53_uc010cng.1_Missense_Mutation_p.M37T|TP53_uc002gii.1_Missense_Mutation_p.M37T|TP53_uc010cnh.1_Missense_Mutation_p.M169T|TP53_uc010cni.1_Missense_Mutation_p.M169T|TP53_uc002gij.2_Missense_Mutation_p.M169T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M76T|TP53_uc002gio.2_Missense_Mutation_p.M37T|TP53_uc010vug.1_Missense_Mutation_p.M130T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	169	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|MT -> IS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M169I(8)|p.0?(7)|p.M169V(3)|p.M169T(3)|p.V157_C176del20(1)|p.K164_P219del(1)|p.H168fs*69(1)|p.P151_V173del23(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.S149fs*72(1)|p.M169fs*2(1)|p.M169fs*12(1)|p.M169_T170insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AACCTCCGTCATGTGCTGTGA	0.652		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
DNAH2	146754	broad.mit.edu	37	17	7710586	7710586	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7710586C>T	uc002giu.1	+	61	9575	c.9561C>T	c.(9559-9561)GGC>GGT	p.G3187G	DNAH2_uc010cnm.1_Silent_p.G125G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3187	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATATCATCGGCCGCGTCTCCC	0.592												
CYB5D1	124637	broad.mit.edu	37	17	7761538	7761538	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7761538A>T	uc002gjb.3	+	1	475	c.86A>T	c.(85-87)AAC>ATC	p.N29I	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Missense_Mutation_p.N29I	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	29	Cytochrome b5 heme-binding.						heme binding			skin(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				GCCCAACATAACAGGCCCGAA	0.612											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CHD3	1107	broad.mit.edu	37	17	7803346	7803346	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7803346T>C	uc002gje.2	+	16	2827	c.2677T>C	c.(2677-2679)TCC>CCC	p.S893P	CHD3_uc002gjd.2_Missense_Mutation_p.S952P|CHD3_uc002gjf.2_Missense_Mutation_p.S893P	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	893	Helicase ATP-binding.				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|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GAACAACCAGTCCAAGGTGAG	0.468												
GUCY2D	3000	broad.mit.edu	37	17	7917326	7917326	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7917326A>G	uc002gjt.2	+	12	2466	c.2392A>G	c.(2392-2394)ATG>GTG	p.M798V		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	798	Protein kinase.|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			skin(1)	1		Prostate(122;0.157)				TCGGCCCTCCATGGACCACAC	0.617												
MYH10	4628	broad.mit.edu	37	17	8381732	8381732	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:8381732C>T	uc002gll.2	-	39	5633	c.5537G>A	c.(5536-5538)CGC>CAC	p.R1846H	MYH10_uc002glm.2_Missense_Mutation_p.R1877H|MYH10_uc010cnx.2_Missense_Mutation_p.R1855H	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1846	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CTTCTCAGTGCGACGGACTAA	0.458												
CCDC42	146849	broad.mit.edu	37	17	8638419	8638419	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:8638419C>T	uc002gln.2	-	6	1095	c.868G>A	c.(868-870)GAC>AAC	p.D290N	CCDC42_uc002glo.2_Missense_Mutation_p.D216N	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	290										ovary(1)	1						CCTACCATGTCCAGCTGCTTG	0.597												
USP43	124739	broad.mit.edu	37	17	9570015	9570015	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:9570015T>C	uc010cod.2	+	3	687	c.687T>C	c.(685-687)GCT>GCC	p.A229A	USP43_uc002gma.3_5'UTR|USP43_uc010vva.1_Silent_p.A229A|USP43_uc010coe.2_Intron	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	229					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CACCATCAGCTCAGCTTCCTC	0.473												
GAS7	8522	broad.mit.edu	37	17	9828912	9828912	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:9828912C>T	uc002gmg.1	-	11	1180	c.1019G>A	c.(1018-1020)CGG>CAG	p.R340Q	GAS7_uc010vvc.1_Missense_Mutation_p.R154Q|GAS7_uc002gmh.1_Missense_Mutation_p.R200Q|GAS7_uc010vvd.1_Missense_Mutation_p.R292Q|GAS7_uc002gmi.2_Missense_Mutation_p.R276Q|GAS7_uc002gmj.1_Missense_Mutation_p.R280Q|GAS7_uc010coh.1_Missense_Mutation_p.R280Q	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	340	Potential.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GAGGGCTTTCCGGGCCTGGGG	0.617			T	MLL	AML*							
GAS7	8522	broad.mit.edu	37	17	9923135	9923135	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:9923135G>A	uc002gmg.1	-	2	424	c.263C>T	c.(262-264)TCG>TTG	p.S88L	GAS7_uc010vvd.1_Missense_Mutation_p.S40L|GAS7_uc002gmi.2_Missense_Mutation_p.S24L|GAS7_uc002gmj.1_Missense_Mutation_p.S28L|GAS7_uc010coh.1_Missense_Mutation_p.S28L	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	88	WW.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GCCCTGAGGCGACAGGTAGCT	0.597			T	MLL	AML*							
MYOCD	93649	broad.mit.edu	37	17	12639605	12639605	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:12639605C>T	uc002gnn.2	+	6	842	c.543C>T	c.(541-543)GAC>GAT	p.D181D	MYOCD_uc002gno.2_Silent_p.D181D|MYOCD_uc002gnp.1_Silent_p.D85D	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN	myocardin isoform 2	181	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			central_nervous_system(2)|skin(2)|ovary(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCGCCAGACGCTAAAGCCT	0.488												
NCOR1	9611	broad.mit.edu	37	17	15973548	15973548	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:15973548G>A	uc002gpo.2	-	31	4684	c.4444C>T	c.(4444-4446)CGG>TGG	p.R1482W	NCOR1_uc002gpn.2_Missense_Mutation_p.R1498W|NCOR1_uc002gpp.1_Missense_Mutation_p.R1389W|NCOR1_uc002gpm.2_5'Flank|NCOR1_uc010vwb.1_Missense_Mutation_p.R66W|NCOR1_uc010coy.2_Missense_Mutation_p.R390W|NCOR1_uc010vwc.1_Missense_Mutation_p.R293W	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1482	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGGTCCTCCGTGCACTGGTG	0.498												
RAI1	10743	broad.mit.edu	37	17	17699170	17699170	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:17699170G>A	uc002grm.2	+	3	3377	c.2908G>A	c.(2908-2910)GCC>ACC	p.A970T	RAI1_uc002grn.1_Missense_Mutation_p.A970T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	970						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CACCTCGGACGCCTCTCTGGC	0.617												
ATPAF2	91647	broad.mit.edu	37	17	17929670	17929670	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:17929670G>A	uc002gse.1	-	4	538	c.385C>T	c.(385-387)CGG>TGG	p.R129W	ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA|ATPAF2_uc010cps.1_RNA	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly	129					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding				0	all_neural(463;0.228)					ACGGCTGCCCGGATCAGCTGA	0.498												
FLII	2314	broad.mit.edu	37	17	18148975	18148975	+	Splice_Site	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:18148975C>A	uc002gsr.1	-	28	3555	c.3504_splice	c.e28-1	p.R1168_splice	FLII_uc002gsq.1_Splice_Site_p.R1039_splice|FLII_uc010cpy.1_Splice_Site_p.R1157_splice|FLII_uc010vxn.1_Splice_Site_p.R1137_splice|FLII_uc010vxo.1_Splice_Site_p.R1113_splice	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog						multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					GTTGGAGCACCTGGGAATCAA	0.552												
SMCR7	125170	broad.mit.edu	37	17	18167618	18167618	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:18167618C>T	uc002gst.2	+	4	1116	c.905C>T	c.(904-906)GCT>GTT	p.A302V	SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.A313V	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	302						integral to membrane	protein binding				0	all_neural(463;0.228)					CTCACTGTGGCTGTGCTTGTG	0.677												
EPN2	22905	broad.mit.edu	37	17	19235367	19235367	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:19235367C>A	uc002gvd.3	+	10	2061	c.1613C>A	c.(1612-1614)CCT>CAT	p.P538H	EPN2_uc010cql.1_Missense_Mutation_p.P247H|EPN2_uc002gve.3_Missense_Mutation_p.P481H|EPN2_uc002gvf.3_Missense_Mutation_p.P253H|EPN2_uc010vyo.1_Missense_Mutation_p.P246H|EPN2_uc010vyp.1_Missense_Mutation_p.P474H|EPN2_uc010vyq.1_Missense_Mutation_p.P475H|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Missense_Mutation_p.P201H	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	538	6 X 3 AA repeats of [DE]-P-W.|3 X 3 AA repeats of N-P-F.|1.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TCCCTCAACCCTTTCCTGGCA	0.637												
RNF112	7732	broad.mit.edu	37	17	19319112	19319112	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:19319112G>A	uc010vyw.1	+	14	1719	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H	RNF112_uc010vyv.1_Missense_Mutation_p.R508H	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	507							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						ATTCTGGCCCGCCATGGTGTG	0.602												
KIAA0100	9703	broad.mit.edu	37	17	26961681	26961681	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:26961681G>A	uc002hbu.2	-	16	3023	c.2924C>T	c.(2923-2925)GCT>GTT	p.A975V		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	975						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ATCTGCCAGAGCTACCAGTTC	0.532												
SUPT6H	6830	broad.mit.edu	37	17	27017981	27017981	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:27017981G>A	uc002hby.2	+	27	3623	c.3533G>A	c.(3532-3534)CGT>CAT	p.R1178H	SUPT6H_uc010crt.2_Missense_Mutation_p.R1178H|SUPT6H_uc002hbz.1_Missense_Mutation_p.R110H	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1178					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GCCCACAGGCGTCCCCAGGGT	0.542												
SUPT6H	6830	broad.mit.edu	37	17	27028023	27028023	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:27028023C>T	uc002hby.2	+	36	4961	c.4871C>T	c.(4870-4872)ACG>ATG	p.T1624M	SUPT6H_uc010crt.2_Missense_Mutation_p.T1624M	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1624					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					TACTCCTACACGACCCCAAGC	0.622												
FLOT2	2319	broad.mit.edu	37	17	27209007	27209007	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:27209007G>A	uc002hdc.2	-	8	862	c.739C>T	c.(739-741)CGT>TGT	p.R247C		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	247					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGCTGTTCACGGGCCCCCTGC	0.577												
PHF12	57649	broad.mit.edu	37	17	27238239	27238239	+	Silent	SNP	G	G	A	rs143319936		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:27238239G>A	uc002hdg.1	-	10	2636	c.2106C>T	c.(2104-2106)CCC>CCT	p.P702P	PHF12_uc010wbb.1_Silent_p.P684P|PHF12_uc002hdi.1_Silent_p.P698P|PHF12_uc002hdh.1_Silent_p.P485P	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	702	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATAACGTGCCGGGGCTGACCT	0.557												
CORO6	84940	broad.mit.edu	37	17	27946167	27946167	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:27946167G>A	uc002hel.2	-	3	364	c.362C>T	c.(361-363)ACG>ATG	p.T121M	CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	coronin 6	121					actin cytoskeleton organization	actin cytoskeleton	actin filament binding				0						GATAGGTTCCGTAATGTTGCG	0.567												
CPD	1362	broad.mit.edu	37	17	28791650	28791650	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:28791650T>G	uc002hfb.1	+	21	3976	c.3961T>G	c.(3961-3963)TGC>GGC	p.C1321G	CPD_uc010wbo.1_Missense_Mutation_p.C1074G|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1321	Cytoplasmic (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						CATTATTTGGTGCATCTGCTC	0.403												
ADAP2	55803	broad.mit.edu	37	17	29280306	29280306	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:29280306C>T	uc002hfx.2	+	8	1021	c.742C>T	c.(742-744)CTC>TTC	p.L248F	ADAP2_uc010csk.2_Missense_Mutation_p.L254F|ADAP2_uc002hfy.2_Missense_Mutation_p.L248F|ADAP2_uc010csl.2_RNA	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein	248					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		ovary(1)	1						TCTTCCCCAGCTCGTGCCATT	0.532												
ZNHIT3	9326	broad.mit.edu	37	17	34848677	34848677	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:34848677C>T	uc002hms.1	+	3	210	c.139C>T	c.(139-141)CGT>TGT	p.R47C	ZNHIT3_uc010cus.1_Missense_Mutation_p.R47C|ZNHIT3_uc002hmt.1_RNA|ZNHIT3_uc010cut.1_RNA	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	thyroid hormone receptor interactor 3	47					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding				0		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		CCCTGAAACTCGTCCTGTTGA	0.453												
ACACA	31	broad.mit.edu	37	17	35487138	35487138	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:35487138C>T	uc002hnm.2	-	46	5766	c.5575G>A	c.(5575-5577)GGG>AGG	p.G1859R	ACACA_uc002hnk.2_Missense_Mutation_p.G1781R|ACACA_uc002hnl.2_Missense_Mutation_p.G1801R|ACACA_uc002hnn.2_Missense_Mutation_p.G1859R|ACACA_uc002hno.2_Missense_Mutation_p.G1896R|ACACA_uc010cuy.2_Missense_Mutation_p.G504R|ACACA_uc010wdc.1_5'UTR	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1859	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACTTCCCGCCCGAGGACCTAG	0.468												
MLLT6	4302	broad.mit.edu	37	17	36865745	36865745	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:36865745G>A	uc002hqi.3	+	6	482	c.469G>A	c.(469-471)GCA>ACA	p.A157T	MLLT6_uc010wdr.1_Missense_Mutation_p.A157T|MLLT6_uc010cvm.1_Missense_Mutation_p.A157T	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	157	PHD-type 2.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					TGCCCAAATGGCAGGCTTGCT	0.577			T	MLL	AL							
PLXDC1	57125	broad.mit.edu	37	17	37234200	37234200	+	Silent	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:37234200G>T	uc002hrg.2	-	11	1364	c.1152C>A	c.(1150-1152)TCC>TCA	p.S384S	uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.S92S|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1 precursor	384	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3						AGAGGGAGGAGGAGGTAGTGG	0.602												
IKZF3	22806	broad.mit.edu	37	17	37922577	37922577	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:37922577C>T	uc002hsu.2	-	8	1058	c.996G>A	c.(994-996)TCG>TCA	p.S332S	IKZF3_uc002htd.2_Silent_p.S298S|IKZF3_uc010cwd.2_Silent_p.S189S|IKZF3_uc002hsv.2_Silent_p.S259S|IKZF3_uc010cwe.2_Silent_p.S198S|IKZF3_uc010cwf.2_Silent_p.S150S|IKZF3_uc010cwg.2_Silent_p.S111S|IKZF3_uc002hsw.2_Silent_p.S293S|IKZF3_uc002hsx.2_Silent_p.S276S|IKZF3_uc002hsy.2_Silent_p.S293S|IKZF3_uc002hsz.2_Silent_p.S237S|IKZF3_uc002hta.2_Silent_p.S254S|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Silent_p.S245S|IKZF3_uc002htc.2_Silent_p.S85S|IKZF3_uc010wel.1_Silent_p.S85S	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	332					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GAACCATCTCCGAGGTGGGAG	0.572												
TNS4	84951	broad.mit.edu	37	17	38635981	38635981	+	Missense_Mutation	SNP	C	C	T	rs141187598	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:38635981C>T	uc010cxb.2	-	10	2019	c.1855G>A	c.(1855-1857)GTG>ATG	p.V619M	TNS4_uc002huu.3_Intron	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	619	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AAGTGGACCACGGTGGGCGTG	0.617												
KRT10	3858	broad.mit.edu	37	17	38976553	38976553	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:38976553T>G	uc002hvi.2	-	4	1016	c.990A>C	c.(988-990)GAA>GAC	p.E330D	KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	330	Rod.|Gly-rich.|Coil 2.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				TGCGGTTTTGTTCAGCAAGTT	0.403												
KRTAP4-2	85291	broad.mit.edu	37	17	39334156	39334156	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:39334156T>C	uc002hwd.2	-	1	305	c.261A>G	c.(259-261)AGA>AGG	p.R87R		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	87	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCACTGGGGTCTGAAGCAGC	0.672												
KRTAP9-4	85280	broad.mit.edu	37	17	39406326	39406326	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:39406326C>T	uc002hwi.2	+	1	388	c.354C>T	c.(352-354)AAC>AAT	p.N118N	KRTAP9-9_uc010wfq.1_Intron	NM_033191	NP_149461	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	118	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTTGCCTAAACCAGAGCTGTG	0.607												
KRT36	8689	broad.mit.edu	37	17	39643638	39643638	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:39643638C>T	uc002hwt.2	-	5	952	c.952G>A	c.(952-954)GCG>ACG	p.A318T		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	318	Rod.|Coil 2.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				ATCTCTAGCGCGTTGACCGTA	0.632												
KRT13	3860	broad.mit.edu	37	17	39658827	39658827	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:39658827G>A	uc002hwu.1	-	6	1106	c.1043C>T	c.(1042-1044)ACG>ATG	p.T348M	KRT13_uc002hwv.1_Missense_Mutation_p.T348M|KRT13_uc002hww.2_Missense_Mutation_p.T241M|KRT13_uc010wfr.1_Missense_Mutation_p.T241M|KRT13_uc010cxo.2_Missense_Mutation_p.T348M|KRT13_uc002hwx.1_Missense_Mutation_p.T336M	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	348	Rod.|Coil 2.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				CTCTGCCACCGTGTTCTCCAG	0.632												
DHX58	79132	broad.mit.edu	37	17	40256929	40256929	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:40256929C>T	uc002hyw.3	-	11	1641	c.1418G>A	c.(1417-1419)CGG>CAG	p.R473Q	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.R466Q	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	473	Helicase C-terminal.			R -> W (in Ref. 1; BAB13818).	innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGATCGGCCCGGGCACGGCC	0.622												
KAT2A	2648	broad.mit.edu	37	17	40266539	40266539	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:40266539C>T	uc002hyx.2	-	14	2163	c.2103G>A	c.(2101-2103)AGG>AGA	p.R701R	DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	701					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)|lung(1)	2						CAGGGATCTGCCTCACGCCCT	0.582												
PLEKHH3	79990	broad.mit.edu	37	17	40825735	40825735	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:40825735G>A	uc002iau.2	-	4	883	c.416C>T	c.(415-417)GCG>GTG	p.A139V	PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.A139V	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H	139	PH.				signal transduction	cytoskeleton				large_intestine(1)|ovary(1)	2		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GAGACGCCGCGCCCCTTTCCC	0.711												
CNTNAP1	8506	broad.mit.edu	37	17	40839898	40839898	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:40839898G>A	uc002iay.2	+	8	1421	c.1205G>A	c.(1204-1206)CGT>CAT	p.R402H	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	402	Laminin G-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTTTTCTCCCGTCTGGGGGAC	0.637												
AOC2	314	broad.mit.edu	37	17	40997823	40997823	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:40997823C>T	uc002ibu.2	+	1	1215	c.1180C>T	c.(1180-1182)CGG>TGG	p.R394W	AOC2_uc002ibt.2_Missense_Mutation_p.R394W	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	394					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGCTTGGTGCGGGGAGTGGA	0.542												
IFI35	3430	broad.mit.edu	37	17	41165127	41165127	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:41165127G>A	uc010whj.1	+	3	380	c.184G>A	c.(184-186)GTG>ATG	p.V62M		NM_005533	NP_005524	P80217	IN35_HUMAN	interferon-induced protein 35	62					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			ovary(1)	1		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GGACCCGGAAGTGCCTAAGTC	0.552												
DHX8	1659	broad.mit.edu	37	17	41598812	41598812	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:41598812G>A	uc002idu.1	+	21	3215	c.3142G>A	c.(3142-3144)GTG>ATG	p.V1048M	DHX8_uc010wig.1_Missense_Mutation_p.V1048M	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1048						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCTGCTAGCTGTGTACAACTC	0.537												
GFAP	2670	broad.mit.edu	37	17	42990757	42990757	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:42990757G>A	uc002ihq.2	-	4	720	c.660C>T	c.(658-660)GTC>GTT	p.V220V	GFAP_uc002ihr.2_Silent_p.V220V|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	220	Linker 12.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				GCTCCACATGGACCTGCTGTC	0.622												
ARHGAP27	201176	broad.mit.edu	37	17	43475404	43475404	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:43475404G>A	uc002iix.2	-	10	1179	c.730C>T	c.(730-732)CGA>TGA	p.R244*	ARHGAP27_uc010dak.2_Nonsense_Mutation_p.R217*|ARHGAP27_uc010wjl.1_Nonsense_Mutation_p.R363*	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	585	PH.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					GAGCCATCTCGGCTCCGTAGC	0.552												
ITGB3	3690	broad.mit.edu	37	17	45361816	45361816	+	Silent	SNP	G	G	A	rs141225656		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:45361816G>A	uc002ilj.2	+	4	389	c.369G>A	c.(367-369)TCG>TCA	p.S123S	ITGB3_uc002ili.1_Silent_p.S123S|ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	123	Extracellular (Potential).				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	CAGATGATTCGAAGAATTTCT	0.428												
LRRC46	90506	broad.mit.edu	37	17	45914298	45914298	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:45914298A>G	uc002ima.2	+	8	1034	c.778A>G	c.(778-780)ACA>GCA	p.T260A	LRRC46_uc002imb.2_Missense_Mutation_p.T213A	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	260										ovary(1)	1						AGGGGAGGAGACAGTCCCTGA	0.637												
HOXB1	3211	broad.mit.edu	37	17	46606967	46606967	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:46606967G>A	uc002ink.1	-	2	854	c.848C>T	c.(847-849)GCC>GTC	p.A283V		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	283						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTGGTCTGAGGCATCTCCAGC	0.632												
HOXB3	3213	broad.mit.edu	37	17	46628527	46628527	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:46628527G>A	uc002inn.2	-	2	865	c.465C>T	c.(463-465)GGC>GGT	p.G155G	HOXB3_uc010wlm.1_Silent_p.G82G|HOXB3_uc010dbf.2_Silent_p.G155G|HOXB3_uc010dbg.2_Silent_p.G155G|HOXB3_uc002ino.2_Silent_p.G155G|HOXB3_uc010wlk.1_Silent_p.G23G|HOXB3_uc010wll.1_Silent_p.G82G	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	155	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						caccgccgccgccaccACAGC	0.373												
ATP5G1	516	broad.mit.edu	37	17	46973023	46973023	+	Silent	SNP	G	G	A	rs11549733		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:46973023G>A	uc002iog.2	+	5	437	c.303G>A	c.(301-303)CCG>CCA	p.P101P	ATP5G1_uc002ioh.2_Silent_p.P101P	NM_005175	NP_005166	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	101					ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding				0						CCAGGAACCCGTCTCTCAAGC	0.567												
GNGT2	2793	broad.mit.edu	37	17	47284234	47284234	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:47284234G>A	uc002ioo.1	-	4	402	c.95C>T	c.(94-96)GCG>GTG	p.A32V		NM_031498	NP_113686	O14610	GBGT2_HUMAN	guanine nucleotide binding protein-gamma	32					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TTCCTTTCCCGCTTTGGAAAT	0.483												
ZNF652	22834	broad.mit.edu	37	17	47394604	47394604	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:47394604C>T	uc002iov.3	-	2	948	c.484G>A	c.(484-486)GCC>ACC	p.A162T	ZNF652_uc002iow.2_Missense_Mutation_p.A162T|ZNF652_uc002iou.3_Intron	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	162	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TCATCTGTGGCCTCTTCCTCA	0.443												
ANKRD40	91369	broad.mit.edu	37	17	48777178	48777178	+	Silent	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:48777178A>T	uc002iso.2	-	3	615	c.360T>A	c.(358-360)GTT>GTA	p.V120V		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	120											0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			AATAGTTGGGAACAAAGGGCA	0.443												
BZRAP1	9256	broad.mit.edu	37	17	56389568	56389568	+	Missense_Mutation	SNP	G	G	A	rs143785694	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:56389568G>A	uc002ivx.3	-	17	3485	c.2614C>T	c.(2614-2616)CGC>TGC	p.R872C	BZRAP1_uc010dcs.2_Missense_Mutation_p.R812C|BZRAP1_uc010wnt.1_Missense_Mutation_p.R872C	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	872						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGCAACAGCGCAGTGGGTCA	0.687												
TRIM37	4591	broad.mit.edu	37	17	57157177	57157177	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:57157177G>A	uc002iwy.3	-	7	998	c.554C>T	c.(553-555)GCA>GTA	p.A185V	TRIM37_uc002iwz.3_Missense_Mutation_p.A185V|TRIM37_uc002ixa.3_Missense_Mutation_p.A63V|TRIM37_uc010woc.1_Missense_Mutation_p.A151V	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	185	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)					CATCTCCACTGCATTCCTAAT	0.393									Mulibrey_Nanism			
DHX40	79665	broad.mit.edu	37	17	57679949	57679949	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:57679949G>A	uc002ixn.1	+	15	2020	c.1873G>A	c.(1873-1875)GCG>ACG	p.A625T	DHX40_uc010woe.1_Missense_Mutation_p.A548T|DHX40_uc010wof.1_Missense_Mutation_p.A140T	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	625							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGTCTTTGTGCGGGCTATTT	0.338												
CLTC	1213	broad.mit.edu	37	17	57759076	57759076	+	Silent	SNP	G	G	A	rs141347684		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:57759076G>A	uc002ixq.1	+	21	3761	c.3318G>A	c.(3316-3318)GCG>GCA	p.A1106A	CLTC_uc002ixp.2_Silent_p.A1106A|CLTC_uc002ixr.1_Silent_p.A1110A	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1106	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGAACCTGCGGTCTGGAGTC	0.418			T	ALK|TFE3	ALCL|renal 							
MED13	9969	broad.mit.edu	37	17	60059997	60059997	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:60059997T>C	uc002izo.2	-	16	3444	c.3367A>G	c.(3367-3369)ACC>GCC	p.T1123A		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1123					androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						AAGCCACAGGTACACCTATAT	0.408												
CCDC45	90799	broad.mit.edu	37	17	62518978	62518978	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:62518978G>A	uc002jem.2	+	8	932	c.874G>A	c.(874-876)GTA>ATA	p.V292I	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.V128I	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	292						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTCCCCAGCCGTAAATTCTAC	0.463												
RGS9	8787	broad.mit.edu	37	17	63189717	63189717	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:63189717T>G	uc002jfe.2	+	12	913	c.803T>G	c.(802-804)CTC>CGC	p.L268R	RGS9_uc010dem.2_Missense_Mutation_p.L265R|RGS9_uc002jfd.2_Missense_Mutation_p.L265R|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.L39R	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	268	G protein gamma.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						TCAGGCTGCCTCCCCAGCAAC	0.398												
KPNA2	3838	broad.mit.edu	37	17	66036862	66036862	+	Silent	SNP	C	C	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:66036862C>G	uc002jgk.2	+	4	414	c.282C>G	c.(280-282)CTC>CTG	p.L94L	KPNA2_uc002jgl.2_Silent_p.L94L	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	94	ARM 1; truncated.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAATCAGCTCCAAGCTACTC	0.418												
FAM20A	54757	broad.mit.edu	37	17	66538187	66538187	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:66538187C>T	uc002jho.2	-	7	1336	c.1048G>A	c.(1048-1050)GCC>ACC	p.A350T	FAM20A_uc010wqp.1_Missense_Mutation_p.A212T|PRKAR1A_uc002jhm.2_Intron|FAM20A_uc002jhn.2_Nonsense_Mutation_p.W52*	NM_017565	NP_060035	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	350						extracellular region					0	Breast(10;1.64e-13)					AGCCTGGGGGCCAGGTTGAGG	0.607												
ABCA9	10350	broad.mit.edu	37	17	67031809	67031809	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:67031809G>T	uc002jhu.2	-	7	1077	c.934C>A	c.(934-936)CTG>ATG	p.L312M	ABCA9_uc010dez.2_Missense_Mutation_p.L312M	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	312	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					ACCAAAGACAGGCCATAGAGG	0.388												
TTYH2	94015	broad.mit.edu	37	17	72218769	72218769	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:72218769C>T	uc002jkc.2	+	2	306	c.275C>T	c.(274-276)ACG>ATG	p.T92M	TTYH2_uc010wqw.1_Missense_Mutation_p.T71M	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	92	Helical; Name=2; (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						ATCACCTGGACGGCCGTGGTG	0.622												
KIF19	124602	broad.mit.edu	37	17	72342526	72342526	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:72342526C>T	uc002jkm.3	+	8	925	c.787C>T	c.(787-789)CGT>TGT	p.R263C	KIF19_uc002jkj.2_Missense_Mutation_p.R263C|KIF19_uc002jkk.2_Missense_Mutation_p.R221C|KIF19_uc002jkl.2_Missense_Mutation_p.R221C	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	263	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						GACACAGAATCGTGGGCAGCG	0.592												
LLGL2	3993	broad.mit.edu	37	17	73555400	73555400	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:73555400G>A	uc002joh.2	+	6	593	c.439G>A	c.(439-441)GGC>AGC	p.G147S	LLGL2_uc002jog.1_Missense_Mutation_p.G147S|LLGL2_uc010dgf.1_Missense_Mutation_p.G147S|LLGL2_uc002joi.2_Missense_Mutation_p.G147S|LLGL2_uc010dgg.1_Missense_Mutation_p.G147S|LLGL2_uc002joj.2_Missense_Mutation_p.G136S	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	147	WD 3.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTCTACCTGGGCACCGAGAG	0.642												
GALK1	2584	broad.mit.edu	37	17	73754610	73754610	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:73754610C>T	uc010wsi.1	-	6	927	c.864G>A	c.(862-864)ACG>ACA	p.T288T	GALK1_uc002jpk.2_Silent_p.T288T	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	288			T -> M (in GALCT2).		galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCCTGGGCCGTGCGCCGAA	0.706												
EVPL	2125	broad.mit.edu	37	17	74004930	74004930	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:74004930C>T	uc002jqi.2	-	22	4584	c.4356G>A	c.(4354-4356)CGG>CGA	p.R1452R	EVPL_uc010wss.1_Silent_p.R1474R|EVPL_uc010wst.1_Silent_p.R922R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1452	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						CCGTGGGAGGCCGCTTCTCGA	0.637												
EXOC7	23265	broad.mit.edu	37	17	74080177	74080177	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:74080177G>A	uc002jqs.2	-	19	2110	c.2015C>T	c.(2014-2016)GCC>GTC	p.A672V	EXOC7_uc002jqp.1_Missense_Mutation_p.P134S|EXOC7_uc010dgv.1_Missense_Mutation_p.A546V|EXOC7_uc002jqq.2_Missense_Mutation_p.A621V|EXOC7_uc010wsw.1_Missense_Mutation_p.A644V|EXOC7_uc010wsx.1_Missense_Mutation_p.A613V|EXOC7_uc002jqr.2_Missense_Mutation_p.A590V|EXOC7_uc010wsv.1_Missense_Mutation_p.A593V	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	672					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			AATAGCCCAGGCCTTCTGGAT	0.527												
SPHK1	8877	broad.mit.edu	37	17	74382511	74382511	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:74382511C>T	uc002jrf.1	+	7	1105	c.296C>T	c.(295-297)ACC>ATC	p.T99I	SPHK1_uc002jrg.1_Missense_Mutation_p.T48I|SPHK1_uc002jrh.2_Missense_Mutation_p.T113I|SPHK1_uc002jrj.2_Missense_Mutation_p.T185I|SPHK1_uc002jri.2_Missense_Mutation_p.T99I|SPHK1_uc002jrk.3_Missense_Mutation_p.T99I	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	99	DAGKc.				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						GACTGGGAGACCGCCATCCAG	0.657											OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SEPT9	10801	broad.mit.edu	37	17	75478334	75478334	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:75478334G>A	uc002jts.3	+	4	956	c.830G>A	c.(829-831)GGC>GAC	p.G277D	SEPT9_uc010wtk.1_Missense_Mutation_p.G258D|SEPT9_uc002jtt.3_Missense_Mutation_p.G113D|SEPT9_uc002jtu.3_Missense_Mutation_p.G259D|SEPT9_uc002jtv.2_Missense_Mutation_p.G270D|SEPT9_uc002jtw.2_Missense_Mutation_p.G113D|SEPT9_uc002jtx.1_Missense_Mutation_p.G113D|SEPT9_uc010wtl.1_Missense_Mutation_p.G53D|SEPT9_uc002jty.3_Missense_Mutation_p.G26D|SEPT9_uc010wtm.1_Missense_Mutation_p.G26D|SEPT9_uc010wtn.1_Missense_Mutation_p.G26D|SEPT9_uc010dhd.2_Missense_Mutation_p.G165D	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	277					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			GTGGACTTCGGCTACGTGGGG	0.637												
DNAH17	8632	broad.mit.edu	37	17	76430202	76430202	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:76430202C>A	uc010dhp.1	-	20	3355	c.3133G>T	c.(3133-3135)GCC>TCC	p.A1045S	DNAH17_uc002jvq.2_Missense_Mutation_p.A330S|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCCCTGGGCGCCGAACTTG	0.602												
TIMP2	7077	broad.mit.edu	37	17	76869992	76869992	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:76869992G>A	uc002jwf.2	-	2	442	c.140C>T	c.(139-141)GCC>GTC	p.A47V	TIMP2_uc002jwe.2_5'UTR|TIMP2_uc010wty.1_5'UTR	NM_003255	NP_003246	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2 precursor	47	NTR.			VIRAKAV -> GKESGDP (in Ref. 10).			metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			GACCGCTTTGGCCCTGATCAC	0.507												
C1QTNF1	114897	broad.mit.edu	37	17	77043914	77043914	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:77043914T>C	uc002jwp.2	+	4	930	c.590T>C	c.(589-591)CTC>CCC	p.L197P	C1QTNF1_uc002jwq.2_Missense_Mutation_p.L115P|C1QTNF1_uc002jwr.3_Missense_Mutation_p.L207P|C1QTNF1_uc002jws.2_Missense_Mutation_p.L197P|C1QTNF1_uc002jwt.2_Missense_Mutation_p.L295P	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	197	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TTCTTCAGCCTCAACGTGCAC	0.557												
CBX8	57332	broad.mit.edu	37	17	77769888	77769888	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:77769888G>A	uc002jxd.1	-	4	307	c.214C>T	c.(214-216)CGT>TGT	p.R72C		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	72					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTGGGTCCACGCTTTTTGGGG	0.517												
RNF213	57674	broad.mit.edu	37	17	78317076	78317076	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:78317076C>T	uc002jyh.1	+	2	576	c.353C>T	c.(352-354)GCG>GTG	p.A118V		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)			TTCCTGGATGCGCAGTATCAG	0.562												
C17orf70	80233	broad.mit.edu	37	17	79514156	79514156	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:79514156T>C	uc002kaq.2	-	5	2007	c.1952A>G	c.(1951-1953)CAG>CGG	p.Q651R	C17orf70_uc002kao.1_Missense_Mutation_p.Q300R|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.Q500R	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	651					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCGCAGACACTGCAGCATGTC	0.657												
SLC16A3	9123	broad.mit.edu	37	17	80195343	80195343	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:80195343G>A	uc002kea.2	+	4	836	c.697G>A	c.(697-699)GTG>ATG	p.V233M	SLC16A3_uc002kee.2_Missense_Mutation_p.V233M|SLC16A3_uc002keb.2_Missense_Mutation_p.V233M|SLC16A3_uc002kec.2_Missense_Mutation_p.V233M|SLC16A3_uc002ked.2_Missense_Mutation_p.V233M	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	233	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GCTTTACGCCGTGGCCGCCTC	0.716												
TBCD	6904	broad.mit.edu	37	17	80884364	80884364	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:80884364C>T	uc002kfz.2	+	28	2598	c.2468C>T	c.(2467-2469)GCG>GTG	p.A823V	TBCD_uc002kfy.1_Missense_Mutation_p.A823V|TBCD_uc002kgb.1_Missense_Mutation_p.A148V|TBCD_uc002kgc.2_5'Flank|TBCD_uc002kgd.2_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	823					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AAGGCCATTGCGAGGTGAGTC	0.507												
COLEC12	81035	broad.mit.edu	37	18	347267	347267	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:347267G>A	uc002kkm.2	-	5	570	c.355C>T	c.(355-357)CGT>TGT	p.R119C		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	119	Potential.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGTTGCTGACGGAGATCTAGA	0.468												
DLGAP1	9229	broad.mit.edu	37	18	3879906	3879906	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:3879906C>A	uc002kmf.2	-	1	230	c.163G>T	c.(163-165)GCT>TCT	p.A55S	DLGAP1_uc010wyz.1_Missense_Mutation_p.A55S|DLGAP1_uc002kmk.2_Missense_Mutation_p.A55S|uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	55					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				ACGCACTCAGCCTGGAAGGAG	0.662												
EPB41L3	23136	broad.mit.edu	37	18	5397065	5397065	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:5397065G>A	uc002kmt.1	-	18	2919	c.2833C>T	c.(2833-2835)CAT>TAT	p.H945Y	EPB41L3_uc010wzh.1_Missense_Mutation_p.H776Y|EPB41L3_uc002kmu.1_Missense_Mutation_p.H723Y|EPB41L3_uc010dkq.1_Missense_Mutation_p.H614Y|EPB41L3_uc002kms.1_Missense_Mutation_p.H180Y|EPB41L3_uc010wze.1_Missense_Mutation_p.H250Y|EPB41L3_uc010wzf.1_Missense_Mutation_p.H242Y|EPB41L3_uc010wzg.1_Missense_Mutation_p.H217Y|EPB41L3_uc010dkr.2_Missense_Mutation_p.H337Y	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	945	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						ACCTCAAAATGAGGTTTTTGT	0.413												
LAMA1	284217	broad.mit.edu	37	18	7044752	7044752	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:7044752C>T	uc002knm.2	-	7	1039	c.945G>A	c.(943-945)CCG>CCA	p.P315P	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	315	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACGGTTCCCGGCCTCCAGG	0.478												
RAB12	201475	broad.mit.edu	37	18	8636338	8636338	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:8636338G>A	uc002knp.2	+	5	887	c.604G>A	c.(604-606)GAT>AAT	p.D202N		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	202					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						GAAACTTGTCGATGACATTCT	0.338												
CTAGE1	64693	broad.mit.edu	37	18	19996086	19996086	+	Silent	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:19996086G>T	uc002ktv.1	-	1	1793	c.1689C>A	c.(1687-1689)CCC>CCA	p.P563P		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	563						integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GAGGTGCCAGGGGCCCAGCGT	0.512												
OSBPL1A	114876	broad.mit.edu	37	18	21891961	21891961	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:21891961T>C	uc002kve.2	-	13	1253	c.1079A>G	c.(1078-1080)AAG>AGG	p.K360R	OSBPL1A_uc010xbc.1_5'Flank|OSBPL1A_uc002kvf.3_Missense_Mutation_p.K140R	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	360					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TAATGATTTCTTCAGGTCTGC	0.388												
DSG4	147409	broad.mit.edu	37	18	28991227	28991227	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:28991227C>T	uc002kwq.2	+	15	2306	c.2171C>T	c.(2170-2172)ACG>ATG	p.T724M	DSG4_uc002kwr.2_Missense_Mutation_p.T743M	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	724	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCGGGGGCACGGTGGAAGGA	0.468												
FHOD3	80206	broad.mit.edu	37	18	34340669	34340669	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:34340669G>A	uc002kzt.1	+	22	4045	c.3948G>A	c.(3946-3948)GTG>GTA	p.V1316V	FHOD3_uc002kzs.1_Silent_p.V1333V|FHOD3_uc010dmz.1_Silent_p.V1048V|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1316					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGAAGGCTGTGCTGAAAACCT	0.682												
KIAA1328	57536	broad.mit.edu	37	18	34465570	34465570	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:34465570A>G	uc002kzz.2	+	5	405	c.383A>G	c.(382-384)GAG>GGG	p.E128G		NM_020776	NP_065827	Q86T90	K1328_HUMAN	hypothetical protein LOC57536	128	Potential.									central_nervous_system(1)	1				COAD - Colon adenocarcinoma(74;0.195)		GCTGAGCAGGAGTCATTTGAG	0.328												
CELF4	56853	broad.mit.edu	37	18	34850756	34850756	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:34850756G>A	uc002lae.2	-	8	1470	c.1074C>T	c.(1072-1074)TTC>TTT	p.F358F	CELF4_uc010dnd.1_Silent_p.F356F|CELF4_uc002lag.2_Silent_p.F348F|CELF4_uc002laf.2_Silent_p.F353F|CELF4_uc002lai.2_Silent_p.F343F|CELF4_uc002lah.1_Silent_p.F83F	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	358					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						TGCCATTGGCGAACACAGCTT	0.572												
ST8SIA5	29906	broad.mit.edu	37	18	44260327	44260327	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:44260327G>A	uc002lcj.1	-	7	1377	c.809C>T	c.(808-810)TCG>TTG	p.S270L	ST8SIA5_uc002lci.1_Missense_Mutation_p.S117L|ST8SIA5_uc010xcy.1_Missense_Mutation_p.S306L|ST8SIA5_uc010xcz.1_Missense_Mutation_p.S239L	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	270	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						AGCTTGCGGCGATTCGAAGTC	0.622												
ZBTB7C	201501	broad.mit.edu	37	18	45566726	45566726	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:45566726G>A	uc002lda.2	-	1	769	c.753C>T	c.(751-753)TTC>TTT	p.F251F	ZBTB7C_uc002ldb.2_Silent_p.F251F|ZBTB7C_uc010dnu.2_Silent_p.F260F|ZBTB7C_uc010dnv.2_Silent_p.F273F|ZBTB7C_uc010dnw.2_Silent_p.F251F|ZBTB7C_uc010dnx.1_Silent_p.F251F|ZBTB7C_uc010dny.1_Silent_p.F251F|ZBTB7C_uc010dnz.1_Silent_p.F273F|ZBTB7C_uc010dob.1_Silent_p.F251F|ZBTB7C_uc010doc.1_Silent_p.F260F|ZBTB7C_uc010dod.1_Silent_p.F273F|ZBTB7C_uc010doe.1_Silent_p.F251F|ZBTB7C_uc010dof.1_Silent_p.F251F|ZBTB7C_uc010dog.1_Silent_p.F251F|ZBTB7C_uc010doh.1_Silent_p.F260F|ZBTB7C_uc010doi.1_Silent_p.F251F|ZBTB7C_uc010doj.1_Silent_p.F260F|ZBTB7C_uc010dok.1_Silent_p.F300F|ZBTB7C_uc010dol.1_Silent_p.F260F|ZBTB7C_uc010doa.1_Silent_p.F273F|ZBTB7C_uc010don.1_Silent_p.F259F|ZBTB7C_uc010doo.1_Silent_p.F251F|ZBTB7C_uc010dop.1_Silent_p.F251F|ZBTB7C_uc010doq.1_Silent_p.F260F|ZBTB7C_uc010dor.1_Silent_p.F273F|ZBTB7C_uc010dos.1_Silent_p.F251F|ZBTB7C_uc010dot.1_Silent_p.F251F|ZBTB7C_uc010dou.1_Silent_p.F260F|ZBTB7C_uc010dom.1_Silent_p.F260F	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	251						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						AGTCCGGGGCGAATGGAGACA	0.597												
WDR7	23335	broad.mit.edu	37	18	54603098	54603098	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:54603098G>A	uc002lgk.1	+	23	4004	c.3793G>A	c.(3793-3795)GCC>ACC	p.A1265T	WDR7_uc002lgl.1_Missense_Mutation_p.A1232T	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1265										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		CATTGCCACCGCCAGACCACC	0.527												
ZNF532	55205	broad.mit.edu	37	18	56586342	56586342	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:56586342G>A	uc002lho.2	+	4	1370	c.823G>A	c.(823-825)GCG>ACG	p.A275T	ZNF532_uc002lhp.2_Missense_Mutation_p.A273T|ZNF532_uc010xeg.1_Missense_Mutation_p.A273T|ZNF532_uc002lhr.2_Missense_Mutation_p.A273T|ZNF532_uc002lhs.2_Missense_Mutation_p.A273T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CGCTGCCATCGCGGCTCTCAG	0.552												
ZNF532	55205	broad.mit.edu	37	18	56646392	56646392	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:56646392G>A	uc002lho.2	+	9	3803	c.3256G>A	c.(3256-3258)GCC>ACC	p.A1086T	ZNF532_uc002lhp.2_Missense_Mutation_p.A1084T|ZNF532_uc010xeg.1_Missense_Mutation_p.A1084T|ZNF532_uc002lhr.2_Missense_Mutation_p.A1084T|ZNF532_uc002lhs.2_Missense_Mutation_p.A1084T|ZNF532_uc010xeh.1_Intron	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1086	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GAAAGTGTACGCCTGCTCGTA	0.527												
CPLX4	339302	broad.mit.edu	37	18	56979989	56979989	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:56979989A>G	uc002lhy.2	-	2	370	c.183T>C	c.(181-183)GCT>GCC	p.A61A		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	complexin 4 precursor	61					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			ovary(1)	1		Colorectal(73;0.175)				GTGTAAATGCAGCATCTCTTT	0.438												
LMAN1	3998	broad.mit.edu	37	18	57020530	57020530	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:57020530G>A	uc002lhz.2	-	5	575	c.543C>T	c.(541-543)GAC>GAT	p.D181D	LMAN1_uc010xek.1_Silent_p.D181D	NM_005570	NP_005561	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1 precursor	181	Lumenal (Potential).|L-type lectin-like.	Calcium.			blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			skin(1)	1		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GACTAGCCCCGTCACTATAGT	0.403												
KIAA1468	57614	broad.mit.edu	37	18	59895676	59895676	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:59895676A>G	uc002lil.2	+	8	1508	c.1293A>G	c.(1291-1293)GGA>GGG	p.G431G	KIAA1468_uc002lik.1_Silent_p.G431G|KIAA1468_uc010xel.1_Silent_p.G431G|KIAA1468_uc002lim.2_Silent_p.G75G	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	431							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				CAGACAAGGGAAAAAACACAG	0.433												
SERPINB4	6318	broad.mit.edu	37	18	61326636	61326636	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:61326636T>C	uc002ljg.2	-	3	374	c.348A>G	c.(346-348)TTA>TTG	p.L116L	SERPINB3_uc002lji.2_Silent_p.L116L|SERPINB3_uc010dqa.2_Silent_p.L116L|SERPINB3_uc010dqb.2_Silent_p.L116L			P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	116					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						AAATTACCTGTAAAAATAGAT	0.433												
RTTN	25914	broad.mit.edu	37	18	67836303	67836303	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:67836303C>A	uc002lkp.2	-	12	1545	c.1477G>T	c.(1477-1479)GCA>TCA	p.A493S	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Intron|RTTN_uc002lkq.1_Missense_Mutation_p.A493S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	493							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				AACTCGCTTGCCTTGGTGaat	0.284												
C18orf55	29090	broad.mit.edu	37	18	71822600	71822600	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:71822600T>C	uc010dqr.1	+	3	722	c.424T>C	c.(424-426)TAT>CAT	p.Y142H		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	142					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)				TAGCAAGATATATGGGAGAGC	0.413												
TSHZ1	10194	broad.mit.edu	37	18	72999246	72999246	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:72999246G>A	uc002lly.2	+	2	2312	c.1749G>A	c.(1747-1749)ACG>ACA	p.T583T		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	628						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGAGCCTCACGCCCCCACCGC	0.642												
NFATC1	4772	broad.mit.edu	37	18	77211059	77211059	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:77211059C>T	uc010xfg.1	+	5	2148	c.1695C>T	c.(1693-1695)CGC>CGT	p.R565R	NFATC1_uc002lnc.1_Silent_p.R565R|NFATC1_uc010xff.1_Intron|NFATC1_uc002lnd.2_Silent_p.R565R|NFATC1_uc002lne.2_Silent_p.R93R|NFATC1_uc010xfh.1_Silent_p.R565R|NFATC1_uc010xfi.1_Silent_p.R552R|NFATC1_uc010xfj.1_Silent_p.R93R|NFATC1_uc002lnf.2_Silent_p.R552R|NFATC1_uc002lng.2_Silent_p.R552R|NFATC1_uc010xfk.1_Silent_p.R552R	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	565	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TGGTGTTCCGCGTTCACGTCC	0.607												
C19orf21	126353	broad.mit.edu	37	19	758615	758615	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:758615C>T	uc002lpo.2	+	2	1752	c.1669C>T	c.(1669-1671)CGG>TGG	p.R557W		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	557	Potential.									upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		TGTCCTGCGCCGGGAGCAAGA	0.612												
LPPR3	79948	broad.mit.edu	37	19	815844	815844	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:815844A>G	uc002lpx.1	-	3	147	c.83T>C	c.(82-84)ATA>ACA	p.I28T	LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Missense_Mutation_p.I28T|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	28	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity				0						AGAAGCCACTATGGGCAGCTG	0.552												
MED16	10025	broad.mit.edu	37	19	877065	877065	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:877065T>G	uc002lqd.1	-	9	1620	c.1469A>C	c.(1468-1470)GAC>GCC	p.D490A	MED16_uc010drw.1_Missense_Mutation_p.D315A|MED16_uc002lqe.2_Missense_Mutation_p.D479A|MED16_uc002lqf.2_Missense_Mutation_p.D479A|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Missense_Mutation_p.D335A|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	490					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		CAGCAGGATGTCCCACCAGTC	0.662												
HMHA1	23526	broad.mit.edu	37	19	1085856	1085856	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:1085856G>A	uc002lqz.1	+	23	3493	c.3262G>A	c.(3262-3264)GGG>AGG	p.G1088R	HMHA1_uc010xgd.1_Missense_Mutation_p.G1104R|HMHA1_uc010xge.1_Missense_Mutation_p.G956R|HMHA1_uc002lra.1_Missense_Mutation_p.G928R|HMHA1_uc002lrb.1_Missense_Mutation_p.G971R|HMHA1_uc002lrc.1_Missense_Mutation_p.G723R|HMHA1_uc002lrd.1_Missense_Mutation_p.G164R|HMHA1_uc010dsd.1_Missense_Mutation_p.G194R	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	1088					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)		GGACGGGGACGGGGACGAGGA	0.692												
DAZAP1	26528	broad.mit.edu	37	19	1428934	1428934	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:1428934G>A	uc002lsn.2	+	8	829	c.640G>A	c.(640-642)GCT>ACT	p.A214T	DAZAP1_uc002lsm.2_Missense_Mutation_p.A214T|DAZAP1_uc002lso.2_Missense_Mutation_p.A213T|DAZAP1_uc002lsl.1_Missense_Mutation_p.A214T	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	214					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		TGTGCCCAACGCTGCCAATGG	0.647												
APC2	10297	broad.mit.edu	37	19	1466376	1466376	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:1466376C>T	uc002lsr.1	+	15	3284	c.3076C>T	c.(3076-3078)CGG>TGG	p.R1026W	APC2_uc002lss.1_Missense_Mutation_p.R608W|APC2_uc002lst.1_Missense_Mutation_p.R1026W|APC2_uc002lsu.1_Missense_Mutation_p.R1025W|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1026					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		TCCAGGGGCCCGGAAGCAGGC	0.667												
REXO1	57455	broad.mit.edu	37	19	1825905	1825905	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:1825905G>A	uc002lua.3	-	3	2044	c.1949C>T	c.(1948-1950)TCG>TTG	p.S650L		NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	650						nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|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)		GGTCAGACCCGAAAGCCCCTT	0.612												
ZNF57	126295	broad.mit.edu	37	19	2917163	2917163	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:2917163C>T	uc002lwr.2	+	4	692	c.544C>T	c.(544-546)CAC>TAC	p.H182Y	ZNF57_uc010xha.1_Missense_Mutation_p.H150Y	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTCCCTCACACCTACACAG	0.498												
TLE6	79816	broad.mit.edu	37	19	2987969	2987969	+	Silent	SNP	C	C	T	rs141862660	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:2987969C>T	uc002lwu.2	+	9	730	c.330C>T	c.(328-330)GTC>GTT	p.V110V	TLE6_uc002lwt.2_Silent_p.V233V|TLE6_uc010dtg.2_Silent_p.V233V|TLE6_uc002lwv.2_5'UTR	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	110					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)		GGGGTGTGGTCCAGGTGAGAC	0.667												
GNA11	2767	broad.mit.edu	37	19	3119270	3119270	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:3119270T>G	uc002lxd.2	+	6	1044	c.802T>G	c.(802-804)TCC>GCC	p.S268A	uc010xhe.1_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	268					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CCAGAACTCCTCCGTCATCCT	0.597			Mis		uveal melanoma							
TBXA2R	6915	broad.mit.edu	37	19	3600476	3600476	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:3600476G>A	uc002lyg.1	-	2	371	c.157C>T	c.(157-159)CGG>TGG	p.R53W	TBXA2R_uc002lye.1_Missense_Mutation_p.R53W	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	53	Cytoplasmic (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCCCCCTGCCGCGCGCCCGCC	0.701												
APBA3	9546	broad.mit.edu	37	19	3760158	3760158	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:3760158G>A	uc002lyp.1	-	2	282	c.105C>T	c.(103-105)AGC>AGT	p.S35S	MRPL54_uc002lyq.3_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding,	35					intracellular signal transduction|protein transport	intracellular|membrane	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCCACTGGCTGTCAGGGG	0.612												
PLIN4	729359	broad.mit.edu	37	19	4512549	4512549	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:4512549C>T	uc002mar.1	-	3	1381	c.1381G>A	c.(1381-1383)GGT>AGT	p.G461S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	461	27 X 33 AA approximate tandem repeat.|12.					lipid particle|plasma membrane					0						TTCGCAGCACCGGTGACCCCA	0.577												
PLIN5	440503	broad.mit.edu	37	19	4523795	4523795	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:4523795C>T	uc002mas.2	-	8	1190	c.1137G>A	c.(1135-1137)GCG>GCA	p.A379A		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	lipid storage droplet protein 5	379						lipid particle					0						CAAGGATGGGCGCGAAGGGTC	0.751												
PTPRS	5802	broad.mit.edu	37	19	5212474	5212474	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:5212474C>A	uc002mbv.2	-	31	4877	c.4643G>T	c.(4642-4644)CGC>CTC	p.R1548L	PTPRS_uc002mbu.1_Missense_Mutation_p.R1117L|PTPRS_uc010xin.1_Missense_Mutation_p.R1090L|PTPRS_uc002mbw.2_Missense_Mutation_p.R1510L|PTPRS_uc002mbx.2_Missense_Mutation_p.R1105L|PTPRS_uc002mby.2_Missense_Mutation_p.R1101L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1548	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CTGGAACTGGCGGACCTCGCG	0.488												
PTPRS	5802	broad.mit.edu	37	19	5244133	5244133	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:5244133G>A	uc002mbv.2	-	11	1583	c.1349C>T	c.(1348-1350)CCG>CTG	p.P450L	PTPRS_uc002mbu.1_Missense_Mutation_p.P437L|PTPRS_uc010xin.1_Missense_Mutation_p.P437L|PTPRS_uc002mbw.2_Missense_Mutation_p.P437L|PTPRS_uc002mbx.2_Missense_Mutation_p.P441L|PTPRS_uc002mby.2_Missense_Mutation_p.P437L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	450	Extracellular (Potential).|Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGGCTCCACCGGCTCCTCCCA	0.682												
SAFB2	9667	broad.mit.edu	37	19	5592763	5592763	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:5592763G>A	uc002mcd.2	-	16	2555	c.2343C>T	c.(2341-2343)ATC>ATT	p.I781I		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	781	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTGACCTGTCGATGGCGTGGT	0.597												
RFX2	5990	broad.mit.edu	37	19	6002852	6002852	+	Silent	SNP	C	C	T	rs144909436		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:6002852C>T	uc002meb.2	-	14	1799	c.1530G>A	c.(1528-1530)ACG>ACA	p.T510T	RFX2_uc002mec.2_Silent_p.T485T	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						AGCGCCGCAGCGTCTGGGCGA	0.677												
RFX2	5990	broad.mit.edu	37	19	6016119	6016119	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:6016119G>A	uc002meb.2	-	7	1030	c.761C>T	c.(760-762)ACG>ATG	p.T254M	RFX2_uc002mec.2_Missense_Mutation_p.T229M	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	254	RFX-type winged-helix.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						CAGCCGCCGCGTTCTCAGCCC	0.567												
DENND1C	79958	broad.mit.edu	37	19	6470356	6470356	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:6470356G>A	uc002mfe.2	-	18	1404	c.1312C>T	c.(1312-1314)CAC>TAC	p.H438Y	DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.H394Y	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	438						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						TTGACTGAGTGCAGGAGGGCG	0.413												
TRIP10	9322	broad.mit.edu	37	19	6743586	6743586	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:6743586G>A	uc002mfs.2	+	6	556	c.490G>A	c.(490-492)GCC>ACC	p.A164T	TRIP10_uc010dux.1_Missense_Mutation_p.A164T|TRIP10_uc002mfr.2_Missense_Mutation_p.A164T|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_5'UTR	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	164	Potential.|Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1						GGATATCAACGCCACCAAGGC	0.622												
SH2D3A	10045	broad.mit.edu	37	19	6752655	6752655	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:6752655C>T	uc002mft.2	-	10	1874	c.1680G>A	c.(1678-1680)AAG>AAA	p.K560K	SH2D3A_uc010xjg.1_Silent_p.K467K	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	560					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						CGCGCTGGAACTTCTCAAAGC	0.682												
C19orf45	374877	broad.mit.edu	37	19	7573246	7573246	+	Missense_Mutation	SNP	G	G	A	rs147092817		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:7573246G>A	uc002mgm.2	+	9	1589	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H		NM_198534	NP_940936	Q8NA69	CS045_HUMAN	hypothetical protein LOC374877	483											0						CCTCACCAGCGCGGCTGCAGG	0.577												
XAB2	56949	broad.mit.edu	37	19	7687494	7687494	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:7687494G>A	uc002mgx.2	-	11	1451	c.1425C>T	c.(1423-1425)CCC>CCT	p.P475P		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	475					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GGTTCTGCACGGGCTCTGAAC	0.672								Direct_reversal_of_damage|NER				
CTXN1	404217	broad.mit.edu	37	19	7990265	7990265	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:7990265C>T	uc002miy.3	-	2	379	c.159G>A	c.(157-159)CTG>CTA	p.L53L		NM_206833	NP_996664	P60606	CTXN1_HUMAN	cortexin 1	53						integral to membrane				ovary(1)	1						AGGGGTCGAGCAGGATGCGCA	0.701												
ADAMTS10	81794	broad.mit.edu	37	19	8651120	8651120	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:8651120G>A	uc002mkj.1	-	22	2820	c.2546C>T	c.(2545-2547)GCG>GTG	p.A849V	ADAMTS10_uc002mki.1_Missense_Mutation_p.A336V|ADAMTS10_uc002mkk.1_Missense_Mutation_p.A481V	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	849	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GCACTCCACCGCCTGCACCTG	0.687											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MUC16	94025	broad.mit.edu	37	19	9072974	9072974	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:9072974C>T	uc002mkp.2	-	3	14676	c.14472G>A	c.(14470-14472)ACG>ACA	p.T4824T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4826	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						TGGAAGGATGCGTTGTCTCTA	0.443												
ZNF562	54811	broad.mit.edu	37	19	9764462	9764462	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:9764462A>G	uc010xks.1	-	6	607	c.444T>C	c.(442-444)AAT>AAC	p.N148N	ZNF562_uc002mly.2_Silent_p.N148N|ZNF562_uc002mlx.2_Silent_p.N76N|ZNF562_uc010xkt.1_Silent_p.N111N|ZNF562_uc010xku.1_Silent_p.N79N|ZNF562_uc010xkv.1_Silent_p.N147N|ZNF562_uc010xkw.1_Silent_p.N32N	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGTTCCCTCCATTCTGAGCTC	0.423												
ICAM5	7087	broad.mit.edu	37	19	10404792	10404792	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:10404792T>C	uc002mnu.3	+	8	1853	c.1788T>C	c.(1786-1788)TGT>TGC	p.C596C	ICAM5_uc002mnv.3_Silent_p.C471C	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	596	Extracellular (Potential).|Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGTTTTCCTGTGAGGTCGATG	0.647												
PDE4A	5141	broad.mit.edu	37	19	10570296	10570296	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:10570296G>A	uc002moj.2	+	10	1334	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	PDE4A_uc002mok.2_Missense_Mutation_p.R383H|PDE4A_uc002mol.2_Missense_Mutation_p.R348H|PDE4A_uc002mom.2_Missense_Mutation_p.R170H|PDE4A_uc002mon.2_Intron|PDE4A_uc002moo.2_Missense_Mutation_p.R75H	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	409	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AAGAAATTCCGCATCCCTGTG	0.642												
DNM2	1785	broad.mit.edu	37	19	10908090	10908090	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:10908090G>T	uc002mps.1	+	10	1395	c.1231G>T	c.(1231-1233)GCC>TCC	p.A411S	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Missense_Mutation_p.A411S|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Missense_Mutation_p.A144S	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	411					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGCCTTTGAAGCCATTGTGAA	0.537												
LDLR	3949	broad.mit.edu	37	19	11213416	11213416	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:11213416C>T	uc002mqk.3	+	3	435	c.267C>T	c.(265-267)TGC>TGT	p.C89C	LDLR_uc010xlk.1_Silent_p.C89C|LDLR_uc010xll.1_Intron|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Silent_p.C89C|LDLR_uc010xlo.1_Silent_p.C89C	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	89	Extracellular (Potential).|LDL-receptor class A 2.		C -> Y (in FH).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TCTGGAGGTGCGATGGCCAAG	0.567												
RAB3D	9545	broad.mit.edu	37	19	11446182	11446182	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:11446182T>G	uc002mqy.2	-	4	651	c.413A>C	c.(412-414)GAC>GCC	p.D138A		NM_004283	NP_004274	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	138	GTP.				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(2)	2						GTCCTCCAGGTCACACTTGTT	0.627												
PRKCSH	5589	broad.mit.edu	37	19	11559934	11559934	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:11559934G>A	uc002mrt.2	+	16	1720	c.1384G>A	c.(1384-1386)GCC>ACC	p.A462T	PRKCSH_uc002mru.2_Missense_Mutation_p.A459T|PRKCSH_uc010xlz.1_Missense_Mutation_p.A469T|PRKCSH_uc010dya.2_Missense_Mutation_p.A244T|PRKCSH_uc010dyb.2_Missense_Mutation_p.A459T	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	462	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						CAAGTTCAGTGCCATGAAGTA	0.677												
ZNF625	90589	broad.mit.edu	37	19	12256589	12256589	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:12256589A>G	uc002mth.2	-	4	794	c.444T>C	c.(442-444)ACT>ACC	p.T148T	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.T182T	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTTTCTCTCCAGTGTGAGTTC	0.413												
ZNF799	90576	broad.mit.edu	37	19	12501871	12501871	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:12501871T>G	uc010dyt.2	-	4	1491	c.1341A>C	c.(1339-1341)AAA>AAC	p.K447N	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						ATTTATAGGGTTTCTCTCCAG	0.388												
ZNF791	163049	broad.mit.edu	37	19	12739381	12739381	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:12739381C>T	uc002mua.2	+	4	1200	c.1038C>T	c.(1036-1038)CAC>CAT	p.H346H	ZNF791_uc010xml.1_Silent_p.H314H|ZNF791_uc010dyu.1_Silent_p.H237H|ZNF791_uc010xmm.1_Silent_p.H237H	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	346	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTCGAGTACACGTGAGAGTGC	0.408												
MAN2B1	4125	broad.mit.edu	37	19	12766586	12766586	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:12766586A>G	uc002mub.2	-	14	1828	c.1752T>C	c.(1750-1752)CCT>CCC	p.P584P	MAN2B1_uc010dyv.1_Silent_p.P583P	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	584					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GCTTCCAGCGAGGCACCTGGG	0.612												
DHPS	1725	broad.mit.edu	37	19	12791075	12791075	+	Missense_Mutation	SNP	C	C	T	rs145815031		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:12791075C>T	uc002muh.1	-	2	369	c.272G>A	c.(271-273)CGC>CAC	p.R91H	DHPS_uc002muf.1_5'UTR|DHPS_uc002mug.1_Missense_Mutation_p.R49H|DHPS_uc002mui.1_Missense_Mutation_p.R91H|DHPS_uc002muj.1_Missense_Mutation_p.R91H|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	91					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)	AAGTGGGCGGCGGCTCTGGGT	0.542												
FBXW9	84261	broad.mit.edu	37	19	12800036	12800036	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:12800036C>T	uc010dyx.2	-	10	1431	c.1431G>A	c.(1429-1431)CAG>CAA	p.Q477Q	FBXW9_uc010xmp.1_RNA|uc002mul.1_Silent_p.A98A|FBXW9_uc002mum.1_Silent_p.Q457Q|FBXW9_uc002mun.1_Silent_p.Q294Q	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	487	WD 7.						protein binding			ovary(1)	1						CTGCTCAGGCCTGCAGCCTCC	0.647												
NFIX	4784	broad.mit.edu	37	19	13184812	13184812	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:13184812C>T	uc010xmx.1	+	5	867	c.814C>T	c.(814-816)CGG>TGG	p.R272W	NFIX_uc002mwd.2_Missense_Mutation_p.R264W|NFIX_uc002mwe.2_Missense_Mutation_p.R256W|NFIX_uc002mwf.2_Missense_Mutation_p.R267W|NFIX_uc002mwg.1_Missense_Mutation_p.R263W			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	264					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCTGGGGCGGCGGTCCATCAC	0.627												
CACNA1A	773	broad.mit.edu	37	19	13323306	13323306	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:13323306G>A	uc010dze.2	-	42	6320	c.6084C>T	c.(6082-6084)AGC>AGT	p.S2028S	CACNA1A_uc010xnd.1_Silent_p.S733S|CACNA1A_uc002mwx.3_Silent_p.S733S|CACNA1A_uc010dzc.2_Silent_p.S1553S|CACNA1A_uc002mwy.3_Silent_p.S2027S|CACNA1A_uc002mwv.3_Silent_p.S544S	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	2028	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCAGGACGGGCTCTCCTTGA	0.652												
CACNA1A	773	broad.mit.edu	37	19	13414687	13414687	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:13414687G>A	uc010dze.2	-	16	2237	c.2001C>T	c.(1999-2001)GGC>GGT	p.G667G	CACNA1A_uc010dzc.2_Silent_p.G192G|CACNA1A_uc002mwy.3_Silent_p.G666G|CACNA1A_uc010xne.1_Silent_p.G192G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	667	Extracellular (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCAGTCTTCGCCCGTCAGGA	0.592												
CACNA1A	773	broad.mit.edu	37	19	13470495	13470495	+	Silent	SNP	G	G	A	rs17846910		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:13470495G>A	uc010dze.2	-	6	1139	c.903C>T	c.(901-903)TTC>TTT	p.F301F	CACNA1A_uc002mwy.3_Silent_p.F301F	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	301	I.|Extracellular (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGATGTTGTCGAACTGAGTGA	0.552												
ZSWIM4	65249	broad.mit.edu	37	19	13939479	13939479	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:13939479C>T	uc002mxh.1	+	12	2238	c.2049C>T	c.(2047-2049)AAC>AAT	p.N683N	ZSWIM4_uc010xng.1_Silent_p.N606N	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	683							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGACTCTGAACGTAATGACCT	0.622												
C19orf57	79173	broad.mit.edu	37	19	14000060	14000060	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:14000060G>A	uc002mxl.1	-	6	1668	c.1609C>T	c.(1609-1611)CTG>TTG	p.L537L	C19orf57_uc002mxk.1_Silent_p.L419L|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	537					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGGCTGTCCAGCAGGAAGTCG	0.607												
LPHN1	22859	broad.mit.edu	37	19	14288438	14288438	+	Silent	SNP	G	G	A	rs148289324		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:14288438G>A	uc010xnn.1	-	3	485	c.189C>T	c.(187-189)TAC>TAT	p.Y63Y	LPHN1_uc010xno.1_Silent_p.Y63Y	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	63	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CCGTGCGCCCGTAGTTGGCAT	0.607												
EMR3	84658	broad.mit.edu	37	19	14772911	14772911	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:14772911T>C	uc002mzi.3	-	4	367	c.219A>G	c.(217-219)CCA>CCG	p.P73P	EMR3_uc010dzp.2_Intron|EMR3_uc010xnv.1_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	73	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						CACTATAGGGTGGTGTACATT	0.294												
OR7A17	26333	broad.mit.edu	37	19	14991937	14991937	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:14991937T>C	uc010xob.1	-	1	231	c.231A>G	c.(229-231)ACA>ACG	p.T77T		NM_030901	NP_112163	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A,	77	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)					TCTTTGGGATTGTAGTGGAGA	0.478												
AKAP8	10270	broad.mit.edu	37	19	15483787	15483787	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:15483787A>G	uc002nav.2	-	5	797	c.736T>C	c.(736-738)TCC>CCC	p.S246P	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Missense_Mutation_p.S60P	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	246					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GAGAAGAGGGACGGAGGTGGC	0.701												
OR10H5	284433	broad.mit.edu	37	19	15905420	15905420	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:15905420G>T	uc010xos.1	+	1	562	c.562G>T	c.(562-564)GCC>TCC	p.A188S		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GTTGAAGTTGGCCTGTGGAGA	0.567												
CYP4F11	57834	broad.mit.edu	37	19	16034738	16034738	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:16034738C>T	uc002nbu.2	-	7	838	c.802G>A	c.(802-804)GAT>AAT	p.D268N	CYP4F11_uc010eab.1_Missense_Mutation_p.D268N|CYP4F11_uc002nbt.2_Missense_Mutation_p.D268N	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	268					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						ATGACGGCATCTGTGAAGTCG	0.532												
TMEM38A	79041	broad.mit.edu	37	19	16791256	16791256	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:16791256C>T	uc002nes.2	+	3	421	c.330C>T	c.(328-330)TGC>TGT	p.C110C		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	110	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3						AGTGTGTCTGCTTCCTGCCTG	0.557												
CPAMD8	27151	broad.mit.edu	37	19	17014586	17014586	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:17014586C>T	uc002nfb.2	-	33	4506	c.4474G>A	c.(4474-4476)GCC>ACC	p.A1492T	CPAMD8_uc002nfd.1_5'Flank	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1445						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TTGGTGGAGGCCAGGGAGACA	0.582												
PLVAP	83483	broad.mit.edu	37	19	17476377	17476377	+	Silent	SNP	G	G	A	rs147035073	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:17476377G>A	uc002ngk.1	-	3	947	c.897C>T	c.(895-897)CGC>CGT	p.R299R		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	299	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						CTGAGTTCTCGCGGGCCACGC	0.672												
IL12RB1	3594	broad.mit.edu	37	19	18177481	18177481	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:18177481C>T	uc002nhw.1	-	12	1418	c.1354G>A	c.(1354-1356)GTC>ATC	p.V452I	IL12RB1_uc010xqb.1_Missense_Mutation_p.V452I|IL12RB1_uc002nhx.1_Missense_Mutation_p.V492I	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	452	Extracellular (Potential).|Fibronectin type-III 5.				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						TTCACCGAGACGTGGTGCGGT	0.483												
IL12RB1	3594	broad.mit.edu	37	19	18183096	18183096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:18183096G>A	uc002nhw.1	-	9	911	c.847C>T	c.(847-849)CGA>TGA	p.R283*	IL12RB1_uc010xqb.1_Nonsense_Mutation_p.R283*|IL12RB1_uc002nhx.1_Nonsense_Mutation_p.R323*|IL12RB1_uc002nhy.2_Nonsense_Mutation_p.R283*	NM_005535	NP_005526	P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1 isoform 1	283	Extracellular (Potential).|Fibronectin type-III 3.				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						AGCTGTAGTCGGTAAGTGACC	0.597												
RAB3A	5864	broad.mit.edu	37	19	18313398	18313398	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:18313398G>A	uc002nie.2	-	2	322	c.153C>T	c.(151-153)TTC>TTT	p.F51F		NM_002866	NP_002857	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	51	Effector region (By similarity).				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity				0						CGGTGCTGACGAAGGCAGGCG	0.562											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UPF1	5976	broad.mit.edu	37	19	18966799	18966799	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:18966799C>T	uc002nkg.2	+	12	1918	c.1643C>T	c.(1642-1644)ACG>ATG	p.T548M	UPF1_uc002nkf.2_Missense_Mutation_p.T537M	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	548					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ATCCACCAGACGGGGCTAAAG	0.612												
SFRS14	10147	broad.mit.edu	37	19	19136833	19136833	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:19136833G>A	uc002nkx.2	-	3	470	c.324C>T	c.(322-324)GGC>GGT	p.G108G	SFRS14_uc002nkz.1_Silent_p.G122G|SFRS14_uc002nla.1_Silent_p.G108G|SFRS14_uc002nlb.2_Silent_p.G108G|SFRS14_uc010xqk.1_Missense_Mutation_p.A10V	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	108					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			CCAGATCCCGGCCACATTCTT	0.517												
SLC25A42	284439	broad.mit.edu	37	19	19217167	19217167	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:19217167C>T	uc002nlf.1	+	6	621	c.470C>T	c.(469-471)GCG>GTG	p.A157V	SLC25A42_uc010xqn.1_Missense_Mutation_p.A209V	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	157	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CTGGTCAGAGCGCGGATGGCC	0.662												
NCAN	1463	broad.mit.edu	37	19	19329854	19329854	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:19329854C>T	uc002nlz.2	+	3	303	c.204C>T	c.(202-204)AGC>AGT	p.S68S		NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	68	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CACGGCCAAGCGCAGCCCGAG	0.657												
NCAN	1463	broad.mit.edu	37	19	19351447	19351447	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:19351447G>A	uc002nlz.2	+	12	3544	c.3445G>A	c.(3445-3447)GAC>AAC	p.D1149N	NCAN_uc002nma.2_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1149	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CGGCCTGAACGACAGGATCGT	0.632												
GATAD2A	54815	broad.mit.edu	37	19	19576260	19576260	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:19576260T>C	uc010xqt.1	+	2	418	c.106T>C	c.(106-108)TTG>CTG	p.L36L	GATAD2A_uc010xqu.1_5'UTR|GATAD2A_uc010xqv.1_Silent_p.L55L|GATAD2A_uc010xqw.1_5'UTR	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	36					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GAGAGGATTGTTGGCTTCAGA	0.532												
GATAD2A	54815	broad.mit.edu	37	19	19613299	19613299	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:19613299G>A	uc010xqt.1	+	11	2047	c.1735G>A	c.(1735-1737)GCC>ACC	p.A579T	GATAD2A_uc010xqu.1_Missense_Mutation_p.A208T|GATAD2A_uc010xqv.1_Missense_Mutation_p.A599T|GATAD2A_uc010xqw.1_Missense_Mutation_p.A382T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	579					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAAGGGCAGCGCCACCTCCAA	0.637												
ZNF714	148206	broad.mit.edu	37	19	21300337	21300337	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:21300337T>C	uc002npo.3	+	6	1230	c.870T>C	c.(868-870)TGT>TGC	p.C290C	ZNF714_uc002npl.2_Silent_p.C135C|ZNF714_uc010ecp.1_Silent_p.C241C|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	290	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTGAAGAATGTGACAAAGCTT	0.338												
ZNF536	9745	broad.mit.edu	37	19	31040042	31040042	+	Silent	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:31040042C>A	uc002nsu.1	+	4	3654	c.3516C>A	c.(3514-3516)TCC>TCA	p.S1172S	ZNF536_uc010edd.1_Silent_p.S1172S	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					ACATGGACTCCTCCAAGGGGG	0.537												
TSHZ3	57616	broad.mit.edu	37	19	31768425	31768425	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:31768425C>T	uc002nsy.3	-	2	2339	c.2274G>A	c.(2272-2274)GCG>GCA	p.A758A		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	758					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)					CAGCCTTCTCCGCCAGGCTGT	0.602												
KIAA0355	9710	broad.mit.edu	37	19	34838949	34838949	+	Splice_Site	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:34838949T>C	uc002nvd.3	+	11	3546	c.2687_splice	c.e11+2	p.G896_splice		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710											ovary(1)	1	Esophageal squamous(110;0.162)					CACAGAAGGGTGAGTGCTGGG	0.637												
ZNF599	148103	broad.mit.edu	37	19	35250008	35250008	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:35250008A>G	uc010edn.1	-	4	2086	c.1698T>C	c.(1696-1698)AAT>AAC	p.N566N	ZNF599_uc010edm.1_Silent_p.N529N	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	566	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCCACATTCATTGCATTCAA	0.403												
LSR	51599	broad.mit.edu	37	19	35753459	35753459	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:35753459C>T	uc002nyl.2	+	5	1009	c.786C>T	c.(784-786)TTC>TTT	p.F262F	LSR_uc002nym.2_Silent_p.F243F|LSR_uc002nyn.2_Intron|LSR_uc002nyo.2_Silent_p.F243F|LSR_uc010xsr.1_Intron|LSR_uc002nyp.2_Silent_p.F225F	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	262	Helical; (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACTGGCTCTTCGTGGTTGTGG	0.627												
MAG	4099	broad.mit.edu	37	19	35800979	35800979	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:35800979G>A	uc002nyy.1	+	8	1583	c.1434G>A	c.(1432-1434)GGG>GGA	p.G478G	MAG_uc002nyx.1_Silent_p.G478G|MAG_uc010eds.1_Silent_p.G453G|MAG_uc002nyz.1_Silent_p.G478G	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	478	Ig-like C2-type 4.|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)			CGCTGCGGGGGCAGGCCCAGG	0.687												
ATP4A	495	broad.mit.edu	37	19	36043937	36043937	+	Splice_Site	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:36043937A>G	uc002oal.1	-	18	2780	c.2751_splice	c.e18+1	p.W917_splice	ATP4A_uc010eee.1_Splice_Site_p.W75_splice	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A						ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCAGGGCTCACCCACTCCTG	0.662												
ATP4A	495	broad.mit.edu	37	19	36046581	36046581	+	Missense_Mutation	SNP	C	C	T	rs145767701		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:36046581C>T	uc002oal.1	-	13	2032	c.2003G>A	c.(2002-2004)CGC>CAC	p.R668H	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	668	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCTTACTTGCGATTAACCTG	0.652												
ARHGAP33	115703	broad.mit.edu	37	19	36269464	36269464	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:36269464G>A	uc002obr.1	+	5	454	c.369G>A	c.(367-369)CCG>CCA	p.P123P	ARHGAP33_uc002obs.1_Silent_p.P123P|ARHGAP33_uc002obt.1_5'UTR|ARHGAP33_uc010eek.1_Silent_p.P141P	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	123	PX; atypical.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CCTGCCTTCCGGAGCTTCCCC	0.612												
APLP1	333	broad.mit.edu	37	19	36365538	36365538	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:36365538G>A	uc002oce.2	+	9	1327	c.1189G>A	c.(1189-1191)GCA>ACA	p.A397T	APLP1_uc010xsz.1_Missense_Mutation_p.A358T|APLP1_uc002ocf.2_Missense_Mutation_p.A397T|APLP1_uc002ocg.2_Missense_Mutation_p.A300T|APLP1_uc010xta.1_Missense_Mutation_p.A391T	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	397	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCTTCCTGGCAGCCCTGCA	0.682												
WDR62	284403	broad.mit.edu	37	19	36557260	36557260	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:36557260A>G	uc002odc.2	+	5	583	c.492A>G	c.(490-492)TCA>TCG	p.S164S	WDR62_uc002odd.2_Silent_p.S164S|WDR62_uc002odb.2_Silent_p.S164S	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	164	WD 2.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGCCTTCTCACCCAATATGA	0.572												
DPF1	8193	broad.mit.edu	37	19	38706786	38706786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:38706786G>A	uc002ohl.2	-	8	868	c.841C>T	c.(841-843)CGA>TGA	p.R281*	DPF1_uc002ohm.2_Nonsense_Mutation_p.R325*|DPF1_uc002ohn.2_Nonsense_Mutation_p.R243*|DPF1_uc010xtu.1_Nonsense_Mutation_p.R299*|DPF1_uc010xtv.1_Nonsense_Mutation_p.R299*	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	281	PHD-type 1.				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCACCTGATCGCCCACAGTCC	0.642												
RYR1	6261	broad.mit.edu	37	19	38949797	38949797	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:38949797C>T	uc002oit.2	+	19	2309	c.2179C>T	c.(2179-2181)CGC>TGC	p.R727C	RYR1_uc002oiu.2_Missense_Mutation_p.R727C	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	727	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACACGTGGCACGCCCAGTGAC	0.582												
RYR1	6261	broad.mit.edu	37	19	39003103	39003103	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:39003103A>G	uc002oit.2	+	63	9582	c.9452A>G	c.(9451-9453)CAG>CGG	p.Q3151R	RYR1_uc002oiu.2_Missense_Mutation_p.Q3151R|RYR1_uc002oiv.1_Missense_Mutation_p.Q71R|RYR1_uc010xuf.1_Missense_Mutation_p.Q71R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3151					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCCAGCACCAGTTCGGAGAT	0.647												
DYRK1B	9149	broad.mit.edu	37	19	40316485	40316485	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:40316485G>A	uc002omj.2	-	11	2040	c.1760C>T	c.(1759-1761)CCG>CTG	p.P587L	DYRK1B_uc002omi.2_Missense_Mutation_p.P559L|DYRK1B_uc002omk.2_Missense_Mutation_p.P547L	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	587					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TGAGGCAGCCGGGTGCTGGGG	0.701												
CNTD2	79935	broad.mit.edu	37	19	40730477	40730477	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:40730477C>T	uc010xvi.1	-	3	480	c.431G>A	c.(430-432)CGC>CAC	p.R144H	CNTD2_uc002ond.2_RNA	NM_024877	NP_079153	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2 isoform 2	144					regulation of cyclin-dependent protein kinase activity		protein kinase binding				0						TAGACGCACGCGGCCAGCGCT	0.617												
SPTBN4	57731	broad.mit.edu	37	19	40996012	40996012	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:40996012C>T	uc002ony.2	+	4	438	c.352C>T	c.(352-354)CAC>TAC	p.H118Y	SPTBN4_uc002onx.2_Missense_Mutation_p.H118Y|SPTBN4_uc002onz.2_Missense_Mutation_p.H118Y	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	118	CH 1.|Actin-binding.				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)			CATGCGGATCCACTCACTGGA	0.667												
LTBP4	8425	broad.mit.edu	37	19	41132925	41132925	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41132925G>T	uc002ooh.1	+	32	4232	c.4232G>T	c.(4231-4233)AGC>ATC	p.S1411I	LTBP4_uc002oog.1_Missense_Mutation_p.S1374I|LTBP4_uc002ooi.1_Missense_Mutation_p.S1344I|LTBP4_uc002ooj.1_Missense_Mutation_p.S284I|LTBP4_uc002ook.1_Missense_Mutation_p.S545I|LTBP4_uc002ool.1_Missense_Mutation_p.S423I|LTBP4_uc010xvp.1_Missense_Mutation_p.S171I	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1411	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCGCATATAGCCCCCCGCGA	0.622												
LTBP4	8425	broad.mit.edu	37	19	41132932	41132932	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41132932G>A	uc002ooh.1	+	32	4239	c.4239G>A	c.(4237-4239)CCG>CCA	p.P1413P	LTBP4_uc002oog.1_Silent_p.P1376P|LTBP4_uc002ooi.1_Silent_p.P1346P|LTBP4_uc002ooj.1_Silent_p.P286P|LTBP4_uc002ook.1_Silent_p.P547P|LTBP4_uc002ool.1_Silent_p.P425P|LTBP4_uc010xvp.1_Silent_p.P173P	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1413	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATAGCCCCCCGCGACCAGGTG	0.627												
AXL	558	broad.mit.edu	37	19	41745098	41745098	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41745098G>T	uc010ehj.2	+	9	1354	c.1164G>T	c.(1162-1164)GAG>GAT	p.E388D	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.E388D|AXL_uc010ehk.2_Missense_Mutation_p.E388D	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	388	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						TAAGGCAAGAGGTGACCCTGG	0.587												
HNRNPUL1	11100	broad.mit.edu	37	19	41798252	41798252	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41798252C>A	uc002oqb.3	+	8	1391	c.1102C>A	c.(1102-1104)CTC>ATC	p.L368I	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.L268I|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.L268I|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.L368I|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.L254I|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.L268I|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.L268I|HNRNPUL1_uc010eho.2_Missense_Mutation_p.L268I|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.L268I|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.L224I|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.L268I	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	368	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						GGGTCAGGCCCTCTATCCTCA	0.502												
TGFB1	7040	broad.mit.edu	37	19	41838133	41838133	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41838133T>C	uc002oqh.1	-	6	1781	c.914A>G	c.(913-915)GAC>GGC	p.D305G	CYP2F1_uc010xvw.1_Intron	NM_000660	NP_000651	P01137	TGFB1_HUMAN	transforming growth factor, beta 1 precursor	305					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding				0					Hyaluronidase(DB00070)	CCAGCCGAGGTCCTTGCGGAA	0.622												
B3GNT8	374907	broad.mit.edu	37	19	41932375	41932375	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41932375G>A	uc002oqs.2	-	3	763	c.309C>T	c.(307-309)ACC>ACT	p.T103T	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	103	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0						CAGGGATCTCGGTGGCGGCGG	0.682												
GRIK5	2901	broad.mit.edu	37	19	42563569	42563569	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:42563569G>A	uc002osj.1	-	5	654	c.619C>T	c.(619-621)CGT>TGT	p.R207C	GRIK5_uc010eib.1_Missense_Mutation_p.R126C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	207	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TTGTCATCACGGATCTCCTTG	0.572												
POU2F2	5452	broad.mit.edu	37	19	42621421	42621421	+	Missense_Mutation	SNP	G	G	A	rs150784596		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:42621421G>A	uc002osp.2	-	5	351	c.284C>T	c.(283-285)ACG>ATG	p.T95M	POU2F2_uc002osn.2_Missense_Mutation_p.T95M|POU2F2_uc002oso.2_Translation_Start_Site|POU2F2_uc002osq.2_Missense_Mutation_p.T95M|POU2F2_uc002osr.1_Missense_Mutation_p.T95M	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	95					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				CTGGCTGCCCGTCAACATGAG	0.617												
DEDD2	162989	broad.mit.edu	37	19	42713974	42713974	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:42713974C>T	uc002osu.1	-	4	535	c.467G>A	c.(466-468)CGG>CAG	p.R156Q	DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Missense_Mutation_p.R151Q|DEDD2_uc002osx.1_Missense_Mutation_p.G40S|DEDD2_uc002osy.1_Missense_Mutation_p.R156Q|DEDD2_uc010eid.2_RNA	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	death effector domain-containing  DNA binding	156	Bipartite nuclear localization signal (Potential).				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity				0		Prostate(69;0.0704)				CCGCCGCTGCCGCTTGGTTGG	0.662												
MEGF8	1954	broad.mit.edu	37	19	42861648	42861648	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:42861648G>A	uc002otl.3	+	27	5357	c.4722G>A	c.(4720-4722)CCG>CCA	p.P1574P	MEGF8_uc002otm.3_Silent_p.P1182P	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1641	Extracellular (Potential).|Kelch 9.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				GTTACTCCCCGGAAAATGGCT	0.672												
LYPD3	27076	broad.mit.edu	37	19	43967403	43967403	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:43967403C>T	uc002owl.1	-	4	527	c.419G>A	c.(418-420)TGC>TAC	p.C140Y	LYPD3_uc002owm.2_3'UTR	NM_014400	NP_055215	O95274	LYPD3_HUMAN	GPI-anchored metastasis-associated protein	140	UPAR/Ly6 2.					anchored to plasma membrane				pancreas(1)	1		Prostate(69;0.0153)				ACAGCTGTAGCACTCCACGCC	0.622												
KCNN4	3783	broad.mit.edu	37	19	44280754	44280754	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:44280754A>C	uc002oxl.2	-	2	590	c.194T>G	c.(193-195)ATC>AGC	p.I65S	KCNN4_uc010eiz.2_5'Flank|KCNN4_uc010eja.1_RNA	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated	65	Helical; Name=Segment S2; (Potential).				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GGAAATGCTGATCGTGCATTT	0.592												
ZNF225	7768	broad.mit.edu	37	19	44635779	44635779	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:44635779C>A	uc002oyj.1	+	5	1255	c.1012C>A	c.(1012-1014)CAC>AAC	p.H338N	ZNF225_uc010eje.1_Missense_Mutation_p.H255N|ZNF225_uc010ejf.1_Missense_Mutation_p.H338N	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	338	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				TCGCATGGTCCACACAGGAGA	0.433												
ZFP112	7771	broad.mit.edu	37	19	44832877	44832877	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:44832877A>G	uc010ejj.2	-	5	1564	c.1451T>C	c.(1450-1452)TTA>TCA	p.L484S	ZFP112_uc002ozc.3_Missense_Mutation_p.L478S|ZFP112_uc010xwy.1_Missense_Mutation_p.L501S|ZFP112_uc010xwz.1_Missense_Mutation_p.L483S	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN	zinc finger protein 228 isoform 1	484	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)	5						TTGAAGATATAAATTATGGCT	0.413												
ZNF296	162979	broad.mit.edu	37	19	45574970	45574970	+	Silent	SNP	C	C	T	rs145168144		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:45574970C>T	uc002pao.2	-	3	1374	c.1317G>A	c.(1315-1317)ACG>ACA	p.T439T		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	439					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGCTGCCAGGCGTCATGCCGT	0.677												
DMWD	1762	broad.mit.edu	37	19	46288989	46288989	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:46288989C>T	uc002pdj.1	-	3	1811	c.1765G>A	c.(1765-1767)GAG>AAG	p.E589K	DMWD_uc002pdk.1_Missense_Mutation_p.E589K|DMWD_uc010eko.1_Missense_Mutation_p.E274K	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	589					meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		AGGGGCACCTCGTGGATGCGC	0.682												
PPP5C	5536	broad.mit.edu	37	19	46890636	46890636	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:46890636G>A	uc002pem.2	+	9	1121	c.1061G>A	c.(1060-1062)GGC>GAC	p.G354D	PPP5C_uc010xya.1_Missense_Mutation_p.G221D|PPP5C_uc002pen.2_Missense_Mutation_p.G332D|PPP5C_uc010xyb.1_Missense_Mutation_p.G212D	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	354	Catalytic.				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		ATGCACGGAGGCCTGTTCAGT	0.607												
CCDC8	83987	broad.mit.edu	37	19	46914767	46914767	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:46914767G>A	uc002pep.2	-	1	2153	c.1301C>T	c.(1300-1302)GCT>GTT	p.A434V		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	434						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTCTGGCCAGCCCGGGCCTG	0.592												
SLC1A5	6510	broad.mit.edu	37	19	47280536	47280536	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:47280536G>A	uc002pfs.2	-	6	1805	c.1185C>T	c.(1183-1185)TGC>TGT	p.C395C	SLC1A5_uc010xyh.1_Silent_p.C193C|SLC1A5_uc002pfq.2_Silent_p.C219C|SLC1A5_uc002pfr.2_Silent_p.C167C	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	395	Helical; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTGCGGCCACGCACTGGAAGA	0.602												
NPAS1	4861	broad.mit.edu	37	19	47548656	47548656	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:47548656C>T	uc002pfw.2	+	12	1716	c.1520C>T	c.(1519-1521)CCG>CTG	p.P507L	NPAS1_uc002pfx.2_Missense_Mutation_p.P332L|NPAS1_uc002pfy.2_Missense_Mutation_p.P507L|NPAS1_uc010xyj.1_3'UTR	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	507					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGCAGGATCCGGTGCGGCCA	0.746												
NAPA	8775	broad.mit.edu	37	19	47991636	47991636	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:47991636T>C	uc002pha.1	-	11	1097	c.797A>G	c.(796-798)TAC>TGC	p.Y266C	uc002pgz.1_Intron|NAPA_uc002phb.1_Missense_Mutation_p.Y227C|NAPA_uc002phc.1_Missense_Mutation_p.Y153C|NAPA_uc002phd.1_Missense_Mutation_p.Y266C	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	266					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GATGGAGTCGTATTCCTTCAC	0.607												
TPRX1	284355	broad.mit.edu	37	19	48306062	48306062	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:48306062G>A	uc002php.1	-	2	277	c.206C>T	c.(205-207)ACG>ATG	p.T69M		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox	69						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GCTGCAGATCGTGGGTTCCGC	0.682												
PLA2G4C	8605	broad.mit.edu	37	19	48565257	48565257	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:48565257C>T	uc002phx.2	-	14	1653	c.1255G>A	c.(1255-1257)GAG>AAG	p.E419K	PLA2G4C_uc002phw.2_Missense_Mutation_p.E354K|PLA2G4C_uc010elr.2_Missense_Mutation_p.E419K|PLA2G4C_uc010xzd.1_Missense_Mutation_p.E429K	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC isoform 1 precursor	419	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			ovary(1)|skin(1)	2		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCGATTACCTCGAAAGGATCT	0.632												
DHDH	27294	broad.mit.edu	37	19	49448111	49448111	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:49448111C>T	uc002ple.1	+	7	966	c.926C>T	c.(925-927)TCG>TTG	p.S309L		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	309					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		ATTCCCCTGTCGGAAAGTGAG	0.522												
CGB2	114336	broad.mit.edu	37	19	49536447	49536447	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:49536447G>A	uc002plw.2	+	3	684	c.461G>A	c.(460-462)GGG>GAG	p.G154E	CGB_uc010yad.1_Intron|SNAR-G2_uc010yae.1_5'Flank|CGB2_uc010yaf.1_Missense_Mutation_p.G142E|CGB2_uc010yag.1_Missense_Mutation_p.G142E	NM_033378	NP_203696			chorionic gonadotropin, beta polypeptide 2												0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CGACTCCCGGGGCCCTCAGAC	0.632												
TRPM4	54795	broad.mit.edu	37	19	49671859	49671859	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:49671859T>C	uc002pmw.2	+	6	734	c.662T>C	c.(661-663)GTC>GCC	p.V221A	TRPM4_uc010emu.2_Missense_Mutation_p.V221A|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.V47A|TRPM4_uc010emv.2_Missense_Mutation_p.V106A|TRPM4_uc010yal.1_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	221	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GAGGACGGGGTCCAGTTTCCC	0.577												
PIH1D1	55011	broad.mit.edu	37	19	49949668	49949668	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:49949668C>T	uc002pns.2	-	9	1128	c.844G>A	c.(844-846)GCC>ACC	p.A282T	uc002pnr.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	282					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		AGCGGCATGGCCACCATTAAT	0.552												
NOSIP	51070	broad.mit.edu	37	19	50059858	50059858	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:50059858C>T	uc002pok.2	-	8	825	c.673G>A	c.(673-675)GTG>ATG	p.V225M	NOSIP_uc002pol.2_Missense_Mutation_p.V225M	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	225					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			skin(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TCGCGGGTCACGGCACACACG	0.697												
ZNF473	25888	broad.mit.edu	37	19	50548543	50548543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:50548543G>A	uc002prn.2	+	5	1080	c.843G>A	c.(841-843)TGG>TGA	p.W281*	ZNF473_uc002prm.2_Nonsense_Mutation_p.W281*|ZNF473_uc010ybo.1_Nonsense_Mutation_p.W269*	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	281	C2H2-type 2; degenerate.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CATACCTGTGGCATCAGAAAA	0.438												
MYH14	79784	broad.mit.edu	37	19	50747580	50747580	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:50747580T>C	uc002prr.1	+	10	1219	c.1172T>C	c.(1171-1173)ATG>ACG	p.M391T	MYH14_uc010enu.1_Missense_Mutation_p.M399T|MYH14_uc002prq.1_Missense_Mutation_p.M399T	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	391	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)		CAAGCCACCATGCCTGACAAC	0.627												
LRRC4B	94030	broad.mit.edu	37	19	51021091	51021091	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:51021091C>T	uc002pss.2	-	3	2016	c.1879G>A	c.(1879-1881)GCC>ACC	p.A627T		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	627	Cytoplasmic (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)		ACGGCCGAGGCGGCGGGCAGC	0.726												
KLK12	43849	broad.mit.edu	37	19	51535273	51535273	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:51535273C>T	uc002pvg.1	-	3	436	c.316G>A	c.(316-318)GAG>AAG	p.E106K	KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Missense_Mutation_p.E106K|KLK12_uc002pvi.1_Missense_Mutation_p.E106K|KLK12_uc002pvj.1_Intron	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 2	106	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		AGGTCGTGCTCGTGGCTCGTC	0.682												
SIGLEC8	27181	broad.mit.edu	37	19	51961233	51961233	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:51961233A>G	uc002pwt.2	-	1	476	c.409T>C	c.(409-411)TCA>CCA	p.S137P	SIGLEC8_uc010yda.1_Missense_Mutation_p.S137P|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.S137P	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	137	Extracellular (Potential).				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)		TTCAACTGTGATTTGTAACTC	0.507												
ZNF836	162962	broad.mit.edu	37	19	52659509	52659509	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:52659509C>T	uc010ydi.1	-	5	1801	c.1427G>A	c.(1426-1428)GGC>GAC	p.G476D	ZNF836_uc010ydj.1_Missense_Mutation_p.G476D	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	476	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAAGACCTTGCCACATTCATT	0.423												
PPP2R1A	5518	broad.mit.edu	37	19	52715983	52715983	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:52715983G>A	uc002pyp.2	+	5	707	c.548G>A	c.(547-549)CGG>CAG	p.R183Q	PPP2R1A_uc010ydk.1_Missense_Mutation_p.R128Q|PPP2R1A_uc010epm.1_Missense_Mutation_p.R223Q|PPP2R1A_uc002pyq.2_Missense_Mutation_p.R4Q	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	183	PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 5.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.R183W(16)|p.R183Q(7)|p.R183G(2)		endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATGGTGCGGCGGGCCGCAGCC	0.562			Mis		clear cell ovarian carcinoma							
PPP2R1A	5518	broad.mit.edu	37	19	52724264	52724264	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:52724264C>A	uc002pyp.2	+	12	1555	c.1396C>A	c.(1396-1398)CTG>ATG	p.L466M	PPP2R1A_uc010ydk.1_Missense_Mutation_p.L411M|PPP2R1A_uc002pyq.2_Missense_Mutation_p.L287M	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	466	PP2A subunit C binding.|HEAT 12.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CACCAGCAACCTGAAGAAGCT	0.547			Mis		clear cell ovarian carcinoma							
ZNF83	55769	broad.mit.edu	37	19	53158850	53158850	+	Translation_Start_Site	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:53158850C>T	uc010epz.2	-	3	364	c.-484G>A	c.(-486--482)CCGTG>CCATG		ZNF83_uc010eqb.1_Translation_Start_Site	NM_001105554	NP_001099024	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform b							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCCAACATCACGGCCCTGTAT	0.478												
ZNF813	126017	broad.mit.edu	37	19	53994075	53994075	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:53994075C>T	uc002qbu.2	+	4	717	c.589C>T	c.(589-591)CGG>TGG	p.R197W	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GAATAATTTCCGGAATTCTTC	0.373												
NLRP12	91662	broad.mit.edu	37	19	54314260	54314260	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:54314260G>A	uc002qch.3	-	3	873	c.653C>T	c.(652-654)GCG>GTG	p.A218V	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A218V|NLRP12_uc002qcj.3_Missense_Mutation_p.A218V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A218V	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	218	NACHT.|ATP (Potential).				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TATCCCTGCCGCGCCTTGCAT	0.592												
TMC4	147798	broad.mit.edu	37	19	54669187	54669187	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:54669187C>T	uc010erf.2	-	6	1061	c.929G>A	c.(928-930)CGG>CAG	p.R310Q	TMC4_uc002qdn.2_5'Flank|TMC4_uc002qdo.2_Missense_Mutation_p.R304Q	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	310	Extracellular (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGCGCAGCCGCACGTGGAC	0.622												
LILRB3	11025	broad.mit.edu	37	19	54721312	54721312	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:54721312G>A	uc002qef.1	-	12	1736	c.1625C>T	c.(1624-1626)ACG>ATG	p.T542M	LILRB3_uc002qee.1_Missense_Mutation_p.T543M|LILRB3_uc002qeh.1_Missense_Mutation_p.T542M|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.T542M|LILRA6_uc002qek.1_Missense_Mutation_p.T543M|LILRB3_uc010erh.1_Missense_Mutation_p.T559M|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.T542M|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.T543M|LILRB3_uc002qep.1_Missense_Mutation_p.T543M|LILRB3_uc002qeq.1_Missense_Mutation_p.T542M|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.T543M	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	542	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGGGGCATACGTCACTGCCTG	0.572												
LAIR1	3903	broad.mit.edu	37	19	54872811	54872811	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:54872811G>T	uc002qfk.1	-	3	386	c.76C>A	c.(76-78)CTG>ATG	p.L26M	LAIR1_uc002qfl.1_Missense_Mutation_p.L26M|LAIR1_uc002qfm.1_Missense_Mutation_p.L25M|LAIR1_uc002qfn.1_Missense_Mutation_p.L25M|LAIR1_uc010yex.1_Missense_Mutation_p.L19M|LAIR1_uc002qfo.2_Missense_Mutation_p.L8M	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	26	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GGTCTGGGCAGATCTTCTAGG	0.453												
LILRA2	11027	broad.mit.edu	37	19	55086397	55086397	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:55086397C>T	uc002qgg.3	+	4	641	c.552C>T	c.(550-552)CCC>CCT	p.P184P	LILRA2_uc010ern.2_Silent_p.P184P|LILRA2_uc002qgf.2_Silent_p.P184P|LILRA2_uc010yfe.1_Silent_p.P184P|LILRA2_uc010yff.1_Silent_p.P172P|LILRA2_uc010ero.2_Silent_p.P172P|LILRA2_uc010yfg.1_Silent_p.P184P	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	184	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CCGTGGGCCCCGTGAGCCCGA	0.577												
NLRP7	199713	broad.mit.edu	37	19	55451377	55451377	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:55451377G>A	uc002qih.3	-	4	886	c.810C>T	c.(808-810)TGC>TGT	p.C270C	NLRP7_uc002qig.3_Silent_p.C270C|NLRP7_uc002qii.3_Silent_p.C270C|NLRP7_uc010esk.2_Silent_p.C270C|NLRP7_uc010esl.2_Silent_p.C298C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	270	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CCCAGTCCCCGCAGATGTCCT	0.592												
NLRP2	55655	broad.mit.edu	37	19	55481476	55481476	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:55481476G>A	uc002qij.2	+	2	179	c.93G>A	c.(91-93)ACG>ACA	p.T31T	NLRP2_uc010yfp.1_Silent_p.T31T|NLRP2_uc010esn.2_Silent_p.T31T|NLRP2_uc010eso.2_Silent_p.T31T|NLRP2_uc010esp.2_Silent_p.T31T	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	31	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATCTGATCACGACCTTCTCCC	0.547												
BRSK1	84446	broad.mit.edu	37	19	55816195	55816195	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:55816195G>A	uc002qkg.2	+	14	1901	c.1624G>A	c.(1624-1626)GGT>AGT	p.G542S	BRSK1_uc002qkf.2_Missense_Mutation_p.G558S|BRSK1_uc002qkh.2_Missense_Mutation_p.G237S	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	542					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CAGCCCCGGCGGTGGCGTCGG	0.721												
ZNF628	89887	broad.mit.edu	37	19	55993938	55993938	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:55993938G>T	uc002qld.2	+	3	1931	c.1366G>T	c.(1366-1368)GGC>TGC	p.G456C	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	456	C2H2-type 10.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TGCCGAGTGCGGCAAGTCCTT	0.731												
ZNF470	388566	broad.mit.edu	37	19	57088950	57088950	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:57088950C>T	uc002qnl.3	+	6	1829	c.1153C>T	c.(1153-1155)CGT>TGT	p.R385C	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	385	C2H2-type 6.|Nuclear localization signal (Potential).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TTCTCTTATACGTCATCGGCG	0.418												
ZIM2	23619	broad.mit.edu	37	19	57286617	57286617	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:57286617T>C	uc002qnr.2	-	11	1405	c.1023A>G	c.(1021-1023)GTA>GTG	p.V341V	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.V137V|ZIM2_uc010ygr.1_Silent_p.V137V|ZIM2_uc002qnq.2_Silent_p.V341V|ZIM2_uc010etp.2_Silent_p.V341V|ZIM2_uc010ygs.1_Silent_p.V341V	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	341	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCCTAAGGGCTACTTGCGTAC	0.463												
ZNF776	284309	broad.mit.edu	37	19	58266024	58266024	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:58266024T>C	uc002qpx.2	+	3	1749	c.1526T>C	c.(1525-1527)GTT>GCT	p.V509A	ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Missense_Mutation_p.V509A	NM_173632	NP_775903	Q68DI1	ZN776_HUMAN	zinc finger protein 776	509	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		CATCAACGAGTTCACACGGGA	0.423												
ZSCAN1	284312	broad.mit.edu	37	19	58565039	58565039	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:58565039C>T	uc002qrc.1	+	6	1094	c.847C>T	c.(847-849)CCG>TCG	p.P283S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	283					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTCGGTAGTGCCGCGTGGGCC	0.622												
ZSCAN18	65982	broad.mit.edu	37	19	58598704	58598704	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:58598704G>A	uc002qri.2	-	4	930	c.621C>T	c.(619-621)GAC>GAT	p.D207D	ZSCAN18_uc002qrj.3_Silent_p.D207D|ZSCAN18_uc010yhs.1_Silent_p.D72D|ZSCAN18_uc002qrh.2_Silent_p.D207D|ZSCAN18_uc010yht.1_Silent_p.D263D|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	207					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)		TGGCAGGGCCGTCCTCTTCGG	0.632												
ZNF8	7554	broad.mit.edu	37	19	58806136	58806136	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:58806136C>T	uc002qry.1	+	4	1092	c.962C>T	c.(961-963)TCT>TTT	p.S321F	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	321	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TGTGGGAAGTCTTTCTGCCAT	0.552												
ZSCAN22	342945	broad.mit.edu	37	19	58849911	58849911	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:58849911C>T	uc002qsc.2	+	3	842	c.695C>T	c.(694-696)GCG>GTG	p.A232V	ZSCAN22_uc010yhz.1_Missense_Mutation_p.R227C	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	232					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGTTCTAGTGCGTGGCCAAAC	0.522												
ZNF324B	388569	broad.mit.edu	37	19	58967706	58967706	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:58967706C>T	uc002qsv.1	+	4	1502	c.1395C>T	c.(1393-1395)GGC>GGT	p.G465G	ZNF324B_uc002qsu.1_Silent_p.G455G|ZNF324B_uc010euq.1_Silent_p.G465G	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	465	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCGCCAAGGGCGCCGTGCTGC	0.687												
PXDN	7837	broad.mit.edu	37	2	1653400	1653400	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:1653400C>T	uc002qxa.2	-	17	2216	c.2152G>A	c.(2152-2154)GCA>ACA	p.A718T		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	718					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)		GACAGGTTTGCGATGAGGTTC	0.572												
TTC15	51112	broad.mit.edu	37	2	3481504	3481504	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:3481504C>T	uc002qxm.1	+	10	2021	c.1815C>T	c.(1813-1815)GAC>GAT	p.D605D	TTC15_uc002qxn.1_Silent_p.D605D|TTC15_uc010ewm.1_Silent_p.D611D	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	605	TPR 2.						binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		ATTTTCAAGACGTTGAGAAAG	0.274												
IAH1	285148	broad.mit.edu	37	2	9628371	9628371	+	Silent	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:9628371C>A	uc002qzr.2	+	6	686	c.660C>A	c.(658-660)GTC>GTA	p.V220V	IAH1_uc002qzs.2_Silent_p.V107V|IAH1_uc002qzt.2_Silent_p.V107V|IAH1_uc010yiz.1_RNA	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog	220					lipid catabolic process		hydrolase activity, acting on ester bonds				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGAAAAAGGTCTCTTCTCTAC	0.433												
GRHL1	29841	broad.mit.edu	37	2	10140825	10140825	+	Missense_Mutation	SNP	C	C	T	rs143356570		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:10140825C>T	uc002raa.2	+	16	2018	c.1847C>T	c.(1846-1848)ACG>ATG	p.T616M	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.T427M|GRHL1_uc010yjb.1_Missense_Mutation_p.T465M	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	616					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)		CTCACCCTGACGGAGATCTAA	0.537												
ATP6V1C2	245973	broad.mit.edu	37	2	10908887	10908887	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:10908887G>A	uc002ras.2	+	6	530	c.421G>A	c.(421-423)GCC>ACC	p.A141T	ATP6V1C2_uc002rat.2_Missense_Mutation_p.A141T	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	141					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CCGAACGGCCGCCTACAACAC	0.557												
KCNF1	3754	broad.mit.edu	37	2	11053802	11053802	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:11053802G>A	uc002rax.2	+	1	1740	c.1250G>A	c.(1249-1251)CGC>CAC	p.R417H		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	417	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AACAAGCAGCGCGTCCTGGAG	0.617												
LPIN1	23175	broad.mit.edu	37	2	11923961	11923961	+	Missense_Mutation	SNP	G	G	A	rs115521500	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:11923961G>A	uc010yjn.1	+	9	1437	c.1163G>A	c.(1162-1164)CGA>CAA	p.R388Q	LPIN1_uc010yjm.1_Missense_Mutation_p.R473Q|LPIN1_uc002rbt.2_Missense_Mutation_p.R388Q|LPIN1_uc002rbs.2_Missense_Mutation_p.R424Q	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	388					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TTAGATAAACGAAGCCGACAT	0.438												
NBAS	51594	broad.mit.edu	37	2	15307394	15307394	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:15307394C>T	uc002rcc.1	-	52	6920	c.6894G>A	c.(6892-6894)AAG>AAA	p.K2298K	NBAS_uc002rcb.1_Silent_p.K138K|NBAS_uc010exl.1_Silent_p.K1370K|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	2298										ovary(2)|liver(1)|skin(1)	4						TCACCAGCAGCTTGGCATCCA	0.522												
NBAS	51594	broad.mit.edu	37	2	15432888	15432888	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:15432888A>G	uc002rcc.1	-	41	4826	c.4800T>C	c.(4798-4800)GCT>GCC	p.A1600A	NBAS_uc010exl.1_Silent_p.A672A|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1600										ovary(2)|liver(1)|skin(1)	4						CTTTGGGATCAGCCTATGAAA	0.433												
GEN1	348654	broad.mit.edu	37	2	17941286	17941286	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:17941286A>C	uc002rct.2	+	2	149	c.76A>C	c.(76-78)ACC>CCC	p.T26P	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.T26P|GEN1_uc002rcu.2_Missense_Mutation_p.T26P	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	26	N-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGTGGGAAAACCATTGCAGT	0.463								Homologous_recombination				
GEN1	348654	broad.mit.edu	37	2	17961961	17961961	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:17961961A>C	uc002rct.2	+	14	1555	c.1482A>C	c.(1480-1482)AAA>AAC	p.K494N	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.K494N|GEN1_uc002rcu.2_Missense_Mutation_p.K494N	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	494					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGACTTTAAAACCCACATGTG	0.343								Homologous_recombination				
APOB	338	broad.mit.edu	37	2	21233212	21233212	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:21233212T>C	uc002red.2	-	26	6656	c.6528A>G	c.(6526-6528)ACA>ACG	p.T2176T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2176	Heparin-binding.				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)	GTATCATATATGTCTGCAGTT	0.244												
APOB	338	broad.mit.edu	37	2	21235467	21235467	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:21235467A>G	uc002red.2	-	26	4401	c.4273T>C	c.(4273-4275)TCT>CCT	p.S1425P		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1425					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)	TGGCGTAGAGACCCATCATAT	0.338												
OTOF	9381	broad.mit.edu	37	2	26693574	26693574	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:26693574C>T	uc002rhk.2	-	32	4037	c.3910G>A	c.(3910-3912)GAG>AAG	p.E1304K	OTOF_uc010yla.1_Missense_Mutation_p.E34K|OTOF_uc002rhh.2_Missense_Mutation_p.E537K|OTOF_uc002rhi.2_Missense_Mutation_p.E614K|OTOF_uc002rhj.2_Missense_Mutation_p.E537K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1304	Cytoplasmic (Potential).|Poly-Lys.				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)					ttcttcttctccttctcctcc	0.512												
OTOF	9381	broad.mit.edu	37	2	26696092	26696092	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:26696092C>T	uc002rhk.2	-	29	3768	c.3641G>A	c.(3640-3642)CGC>CAC	p.R1214H	OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Missense_Mutation_p.R467H|OTOF_uc002rhi.2_Missense_Mutation_p.R524H|OTOF_uc002rhj.2_Missense_Mutation_p.R467H	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1214	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)					CAGTGTGTAGCGACCGAAGGC	0.672												
SLC30A3	7781	broad.mit.edu	37	2	27481120	27481120	+	Silent	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:27481120C>A	uc002rjk.2	-	3	519	c.333G>T	c.(331-333)GCG>GCT	p.A111A	SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Silent_p.A106A	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	111	Helical; (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCACATCCGCCAGCAAGT	0.582												
FOSL2	2355	broad.mit.edu	37	2	28627079	28627079	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:28627079A>G	uc002rma.2	+	2	1017	c.208A>G	c.(208-210)ACC>GCC	p.T70A	FOSL2_uc010ymi.1_Missense_Mutation_p.T31A	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	70					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					CACAGTGATCACCTCCATGTC	0.632												
TRMT61B	55006	broad.mit.edu	37	2	29083987	29083987	+	Silent	SNP	G	G	A	rs145705706		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:29083987G>A	uc002rmm.2	-	3	1022	c.990C>T	c.(988-990)GAC>GAT	p.D330D	TRMT61B_uc002rmn.2_Silent_p.D330D|TRMT61B_uc010ezk.2_RNA	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B	330							tRNA (adenine-N1-)-methyltransferase activity				0						AACTTACTGCGTCAAATGTTA	0.388												
CAPN13	92291	broad.mit.edu	37	2	30987098	30987098	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:30987098A>G	uc002rnn.2	-	6	775	c.599T>C	c.(598-600)ATC>ACC	p.I200T	CAPN13_uc002rnp.1_Missense_Mutation_p.I200T	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	200	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GATGTTGGTGATCACGCCTCC	0.582												
CRIM1	51232	broad.mit.edu	37	2	36704126	36704126	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:36704126C>T	uc002rpd.2	+	6	1125	c.1086C>T	c.(1084-1086)GGC>GGT	p.G362G		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	362	VWFC 1.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GCCAAGGGGGCGTTGCCATCT	0.493												
VIT	5212	broad.mit.edu	37	2	37035710	37035710	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:37035710C>T	uc002rpl.2	+	15	1706	c.1485C>T	c.(1483-1485)GAC>GAT	p.D495D	VIT_uc002rpm.2_Silent_p.D473D|VIT_uc010ezv.2_Silent_p.D451D|VIT_uc010ezw.2_Silent_p.D452D	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	480						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				GGGTCTGCGACACTGACCGCC	0.617												
THUMPD2	80745	broad.mit.edu	37	2	39964026	39964026	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:39964026G>A	uc002rru.2	-	10	1398	c.1361C>T	c.(1360-1362)GCG>GTG	p.A454V	THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.A345V	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	454							methyltransferase activity			skin(1)	1		all_hematologic(82;0.248)				TGAAGTTGACGCTGTCTTGAA	0.423												
ABCG8	64241	broad.mit.edu	37	2	44099366	44099366	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:44099366G>A	uc002rtq.2	+	8	1222	c.1132G>A	c.(1132-1134)GTG>ATG	p.V378M	ABCG8_uc010yoa.1_Missense_Mutation_p.V377M	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	378	Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCCCAGCAGCGTGACCCCACT	0.572												
SIX3	6496	broad.mit.edu	37	2	45169972	45169972	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:45169972C>T	uc002run.1	+	1	936	c.729C>T	c.(727-729)ACC>ACT	p.T243T		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	243	Homeobox.				visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGCAGGCCACCGGCCTCACTC	0.662												
PRKCE	5581	broad.mit.edu	37	2	45879393	45879393	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:45879393G>A	uc002rut.2	+	1	351	c.154G>A	c.(154-156)GGC>AGC	p.G52S		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	52	C2.				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)			CTCGCGCATCGGCCAAACGGC	0.627												
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808788	48808788	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:48808788G>A	uc010yol.1	+	1	1063	c.1016G>A	c.(1015-1017)AGT>AAT	p.S339N	STON1_uc002rwo.3_Missense_Mutation_p.S339N|STON1_uc010fbm.2_Missense_Mutation_p.S339N|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S339N|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.S339N	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	339					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGAACTTCAGTGTAGCAGGA	0.358												
FSHR	2492	broad.mit.edu	37	2	49190059	49190059	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:49190059C>T	uc002rww.2	-	10	1975	c.1901G>A	c.(1900-1902)CGC>CAC	p.R634H	FSHR_uc002rwx.2_Missense_Mutation_p.R572H|FSHR_uc010fbn.2_Missense_Mutation_p.R608H	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	634	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.R634R(1)		ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAAATCTCTGCGAAAGTTTTT	0.453									Gonadal_Dysgenesis_46_XX			
NRXN1	9378	broad.mit.edu	37	2	51255151	51255151	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:51255151G>A	uc010fbq.2	-	2	1738	c.261C>T	c.(259-261)GGC>GGT	p.G87G	NRXN1_uc002rxe.3_Silent_p.G87G|NRXN1_uc002rxd.1_Silent_p.G87G	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTGCAGGCGGCCGCCGCGCG	0.672												
PSME4	23198	broad.mit.edu	37	2	54119956	54119956	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:54119956T>A	uc002rxp.2	-	36	4236	c.4180A>T	c.(4180-4182)ACA>TCA	p.T1394S	PSME4_uc010yop.1_Missense_Mutation_p.T1280S|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.T769S|PSME4_uc010fbv.1_Missense_Mutation_p.T538S	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1394					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTTTCAAATGTCCAGTGCTTA	0.373												
C2orf73	129852	broad.mit.edu	37	2	54570910	54570910	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:54570910C>T	uc002rxt.1	+	3	330	c.288C>T	c.(286-288)TAC>TAT	p.Y96Y	C2orf73_uc010yor.1_Silent_p.Y38Y|C2orf73_uc002rxs.1_Translation_Start_Site|C2orf73_uc010yos.1_RNA	NM_001100396	NP_001093866	Q8N5S3	CB073_HUMAN	hypothetical protein LOC129852	96											0						TACCACCTTACGACTCTAAGA	0.443												
PNPT1	87178	broad.mit.edu	37	2	55870530	55870530	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:55870530G>A	uc002rzf.2	-	24	1990	c.1937C>T	c.(1936-1938)ACG>ATG	p.T646M	PNPT1_uc002rzg.2_RNA	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	646	KH.				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TACAGAAAACGTTTCTTCATC	0.274												
PUS10	150962	broad.mit.edu	37	2	61188656	61188656	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:61188656T>C	uc010fci.2	-	10	876	c.816A>G	c.(814-816)CCA>CCG	p.P272P	PUS10_uc002sao.2_Silent_p.P272P|PUS10_uc010ypk.1_Silent_p.P49P	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	272					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			ATACAGCCTTTGGTGAGTTTG	0.353												
UGP2	7360	broad.mit.edu	37	2	64111196	64111196	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:64111196C>T	uc002scm.2	+	5	850	c.544C>T	c.(544-546)CGT>TGT	p.R182C	UGP2_uc002scl.2_Missense_Mutation_p.R171C|UGP2_uc010ypx.1_Missense_Mutation_p.R191C	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	182					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						CAATCATTGTCGTGTGAAAAT	0.313												
CEP68	23177	broad.mit.edu	37	2	65298797	65298797	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:65298797C>T	uc002sdl.3	+	3	781	c.567C>T	c.(565-567)TCC>TCT	p.S189S	CEP68_uc002sdj.2_Silent_p.S189S|CEP68_uc010yqb.1_Silent_p.S189S|CEP68_uc002sdk.3_Silent_p.S189S|CEP68_uc010yqc.1_Silent_p.S189S|CEP68_uc010yqd.1_Silent_p.S189S	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	189					centrosome organization	centrosome				skin(1)	1						GCCCAGGTTCCGCAGCTCAGC	0.627												
SPRED2	200734	broad.mit.edu	37	2	65541135	65541135	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:65541135G>A	uc002sdr.3	-	6	1292	c.757C>T	c.(757-759)CGC>TGC	p.R253C	SPRED2_uc010fcw.2_Missense_Mutation_p.R250C	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	253	KBD.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TTGGCGAAGCGCACGTAGGAG	0.652												
CLEC4F	165530	broad.mit.edu	37	2	71043195	71043195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:71043195G>A	uc002shf.2	-	4	1395	c.1318C>T	c.(1318-1320)CAG>TAG	p.Q440*	CLEC4F_uc010yqv.1_Nonsense_Mutation_p.Q440*	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	440	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						CTCTGCTCCTGCTGGATTTCC	0.517												
ALMS1	7840	broad.mit.edu	37	2	73676827	73676827	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:73676827T>C	uc002sje.1	+	10	3287	c.3176T>C	c.(3175-3177)GTT>GCT	p.V1059A	ALMS1_uc002sjf.1_Missense_Mutation_p.V1015A|ALMS1_uc002sjg.2_Missense_Mutation_p.V445A|ALMS1_uc002sjh.1_Missense_Mutation_p.V445A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1057	34 X 47 AA approximate tandem repeat.|11.				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						AAGCCTAGTGTTTTGTACCCA	0.498												
ALMS1	7840	broad.mit.edu	37	2	73680921	73680921	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:73680921A>C	uc002sje.1	+	10	7381	c.7270A>C	c.(7270-7272)AAT>CAT	p.N2424H	ALMS1_uc002sjf.1_Missense_Mutation_p.N2380H|ALMS1_uc002sjg.2_Missense_Mutation_p.N1810H|ALMS1_uc002sjh.1_Missense_Mutation_p.N1810H	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2422					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						CAGTGATGGAAATGGTTCCTG	0.388												
C2orf78	388960	broad.mit.edu	37	2	74042785	74042785	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:74042785G>A	uc002sjr.1	+	3	1556	c.1435G>A	c.(1435-1437)GCC>ACC	p.A479T		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	479										ovary(2)	2						AGATACCAGTGCCATCAAGGT	0.468												
DCTN1	1639	broad.mit.edu	37	2	74596483	74596483	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:74596483C>T	uc002skx.2	-	14	1839	c.1528G>A	c.(1528-1530)GTT>ATT	p.V510I	DCTN1_uc002skv.2_Missense_Mutation_p.V376I|DCTN1_uc002sku.2_Missense_Mutation_p.V376I|DCTN1_uc002skw.1_Missense_Mutation_p.V486I|DCTN1_uc010ffd.2_Missense_Mutation_p.V490I|DCTN1_uc002sky.2_Missense_Mutation_p.V473I	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	510	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						TAGTCTGCAACCGTCTCCTGG	0.622												
CTNNA2	1496	broad.mit.edu	37	2	80085186	80085186	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:80085186T>A	uc010ysh.1	+	3	351	c.346T>A	c.(346-348)TCG>ACG	p.S116T	CTNNA2_uc010yse.1_Missense_Mutation_p.S116T|CTNNA2_uc010ysf.1_Missense_Mutation_p.S116T|CTNNA2_uc010ysg.1_Missense_Mutation_p.S116T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	116					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TGACCCTTGCTCGTCGGTAAA	0.592												
CTNNA2	1496	broad.mit.edu	37	2	80085188	80085188	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:80085188G>A	uc010ysh.1	+	3	353	c.348G>A	c.(346-348)TCG>TCA	p.S116S	CTNNA2_uc010yse.1_Silent_p.S116S|CTNNA2_uc010ysf.1_Silent_p.S116S|CTNNA2_uc010ysg.1_Silent_p.S116S	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	116					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						ACCCTTGCTCGTCGGTAAAGC	0.582												
LRRTM1	347730	broad.mit.edu	37	2	80530111	80530111	+	Silent	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:80530111G>T	uc002sok.1	-	2	1104	c.834C>A	c.(832-834)ACC>ACA	p.T278T	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	278	LRR 8.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						GGTGCGGCACGGTCTCGAACA	0.587										HNSCC(69;0.2)		
ELMOD3	84173	broad.mit.edu	37	2	85598687	85598687	+	Splice_Site	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:85598687T>C	uc002spf.3	+	11	1272	c.607_splice	c.e11+2	p.G203_splice	ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spg.3_Splice_Site_p.G203_splice|ELMOD3_uc002sph.3_Splice_Site_p.G203_splice|ELMOD3_uc010ysn.1_Splice_Site_p.G203_splice|ELMOD3_uc010yso.1_Splice_Site|ELMOD3_uc010ysp.1_Intron	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b						phagocytosis	cytoskeleton				ovary(2)	2						GCTTTCAGGGTAAGAGGGAGG	0.527												
SFTPB	6439	broad.mit.edu	37	2	85893744	85893744	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:85893744T>C	uc002sqh.2	-	4	395	c.389A>G	c.(388-390)CAG>CGG	p.Q130R	SFTPB_uc002sqi.2_Missense_Mutation_p.Q142R|SFTPB_uc002sqj.2_Missense_Mutation_p.Q130R	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	130	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						CCTCACAGTCTGGTTCTGGAA	0.622												
MRPL35	51318	broad.mit.edu	37	2	86437712	86437712	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:86437712C>T	uc002srg.3	+	4	546	c.488C>T	c.(487-489)ACG>ATG	p.T163M	MRPL35_uc002srf.3_Missense_Mutation_p.T163M	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35 isoform a	163					translation	mitochondrial ribosome	structural constituent of ribosome				0						AAAATGACGACGTCCTTCTGG	0.373												
KCNIP3	30818	broad.mit.edu	37	2	96040058	96040058	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:96040058G>A	uc002sup.2	+	3	311	c.196G>A	c.(196-198)GAG>AAG	p.E66K	KCNIP3_uc002suq.2_Missense_Mutation_p.E40K	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3 isoform 1	66					apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			breast(2)|ovary(1)	3				READ - Rectum adenocarcinoma(193;0.13)		CAGCGACAGTGAGCTGGAGCT	0.612												
TMEM127	55654	broad.mit.edu	37	2	96919660	96919660	+	Silent	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:96919660T>G	uc002svq.2	-	4	860	c.603A>C	c.(601-603)ACA>ACC	p.T201T	TMEM127_uc002svr.2_Silent_p.T201T	NM_017849	NP_060319	O75204	TM127_HUMAN	transmembrane protein 127	201					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane					0						CCTCTTCCTCTGTGGGGTAGT	0.607									Pheochromocytoma_(Adrenal)_Familial			
SNRNP200	23020	broad.mit.edu	37	2	96943411	96943411	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:96943411T>C	uc002svu.2	-	41	5883	c.5797A>G	c.(5797-5799)AAT>GAT	p.N1933D	SNRNP200_uc002svt.2_Missense_Mutation_p.N543D|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1933	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						AGCCACCCATTGCTGGAAAGG	0.552												
CNNM4	26504	broad.mit.edu	37	2	97463265	97463265	+	Missense_Mutation	SNP	G	G	A	rs148365594		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:97463265G>A	uc002swx.2	+	3	1660	c.1562G>A	c.(1561-1563)CGG>CAG	p.R521Q	CNNM4_uc010yuy.1_Missense_Mutation_p.R8Q|hsa-mir-3127|MI0014144_5'Flank	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	521					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						AACCGAAGCCGGAAGCGGGTG	0.572												
RNF149	284996	broad.mit.edu	37	2	101910512	101910512	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:101910512G>A	uc002taz.1	-	3	846	c.744C>T	c.(742-744)GGC>GGT	p.G248G	RNF149_uc002tax.1_RNA	NM_173647	NP_775918	Q8NC42	RN149_HUMAN	ring finger protein 149 precursor	248						integral to membrane	ligase activity|zinc ion binding			ovary(1)|breast(1)	2						GTAGAAGCTGGCCAATAACTT	0.289												
NCK2	8440	broad.mit.edu	37	2	106497880	106497880	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:106497880G>A	uc002tdg.2	+	4	765	c.323G>A	c.(322-324)CGC>CAC	p.R108H	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.R108H	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	108					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						GGCGCCGACCGCATCTACGAC	0.677												
SH3RF3	344558	broad.mit.edu	37	2	109964227	109964227	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:109964227G>A	uc010ywt.1	+	2	671	c.671G>A	c.(670-672)CGG>CAG	p.R224Q		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	224	SH3 1.						zinc ion binding			ovary(1)	1						ATCGTCCTGCGGCGCAAGGTG	0.602												
ANAPC1	64682	broad.mit.edu	37	2	112608477	112608477	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:112608477A>G	uc002thi.2	-	14	1773	c.1526T>C	c.(1525-1527)GTT>GCT	p.V509A		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	509					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				skin(2)	2						AGGAATAAAAACCTTTCCCAC	0.378												
ZC3H6	376940	broad.mit.edu	37	2	113089479	113089479	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:113089479C>T	uc002thq.1	+	12	3378	c.2984C>T	c.(2983-2985)GCC>GTC	p.A995V		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	995							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						TCAAAGGGTGCCCCTCACTTA	0.488												
RGPD5	84220	broad.mit.edu	37	2	113147712	113147712	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:113147712T>C	uc002ths.1	-	20	2887	c.2810A>G	c.(2809-2811)GAA>GGA	p.E937G	RGPD8_uc010fkk.1_Missense_Mutation_p.E797G|RGPD5_uc002tht.1_Missense_Mutation_p.E188G	NM_005054	NP_005045	Q99666	RGPD5_HUMAN	RANBP2-like and GRIP domain containing 5 isoform	937					intracellular transport	cytoplasm	binding				0						AAGAGGCTTTTCCCTTTTCTT	0.418												
CKAP2L	150468	broad.mit.edu	37	2	113520087	113520087	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:113520087T>A	uc002tie.2	-	2	176	c.97A>T	c.(97-99)AAC>TAC	p.N33Y	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	33						centrosome					0						CACTTGGTGTTTTGGCTCTTC	0.418												
TFCP2L1	29842	broad.mit.edu	37	2	121997154	121997154	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:121997154G>A	uc002tmx.2	-	8	933	c.840C>T	c.(838-840)AAC>AAT	p.N280N	TFCP2L1_uc010flr.2_Silent_p.N280N	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	280					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					GGCCAAAGCTGTTTGGAGAAC	0.577												
CLASP1	23332	broad.mit.edu	37	2	122286272	122286272	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:122286272T>C	uc002tnc.2	-	4	749	c.359A>G	c.(358-360)GAT>GGT	p.D120G	CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.D120G|CLASP1_uc010yza.1_Missense_Mutation_p.D120G|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Missense_Mutation_p.D120G|RNU4ATAC_uc010yzd.1_5'Flank	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	120	HEAT 1.				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)					AGCAGCTTGATCCATGATCTT	0.507												
IWS1	55677	broad.mit.edu	37	2	128249666	128249666	+	Splice_Site	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:128249666T>C	uc002ton.2	-	10	2233	c.1930_splice	c.e10-1	p.L644_splice	IWS1_uc010yzl.1_Intron	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog						transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACTAGGCAGCTGGGGAACATA	0.458												
IWS1	55677	broad.mit.edu	37	2	128250886	128250886	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:128250886G>A	uc002ton.2	-	9	2203	c.1900C>T	c.(1900-1902)CGG>TGG	p.R634W	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	634	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGCTCCTCCCGGATCTTGAGT	0.443												
FAM128A	653784	broad.mit.edu	37	2	132241708	132241708	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:132241708G>A	uc002tsw.3	-	3	518	c.403C>T	c.(403-405)CCA>TCA	p.P135S	FAM128A_uc002tsv.3_RNA	NM_001085365	NP_001078834	Q6P582	MZT2A_HUMAN	hypothetical protein LOC653784	135						centrosome|gamma-tubulin ring complex|spindle					0				BRCA - Breast invasive adenocarcinoma(221;0.13)		GGCTGGCGTGGCATCCTCTGG	0.647												
GPR39	2863	broad.mit.edu	37	2	133174929	133174929	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:133174929C>A	uc002ttl.2	+	1	783	c.314C>A	c.(313-315)ACC>AAC	p.T105N		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	105	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						TCCAGCTACACCCTGTCCTGC	0.557												
NCKAP5	344148	broad.mit.edu	37	2	133540971	133540971	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:133540971T>C	uc002ttp.2	-	14	3787	c.3413A>G	c.(3412-3414)CAT>CGT	p.H1138R	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1138							protein binding				0						TCCTTTCTCATGAGCACTTTG	0.498												
KIF5C	3800	broad.mit.edu	37	2	149806952	149806952	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:149806952A>G	uc010zbu.1	+	10	1312	c.944A>G	c.(943-945)AAG>AGG	p.K315R	KIF5C_uc002tws.1_RNA	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	315	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		GCTGAGACCAAGTCCACACTG	0.473												
CACNB4	785	broad.mit.edu	37	2	152695721	152695721	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:152695721T>C	uc002tya.2	-	14	1543	c.1475A>G	c.(1474-1476)TAC>TGC	p.Y492C	CACNB4_uc002txy.2_Missense_Mutation_p.Y458C|CACNB4_uc002txz.2_Missense_Mutation_p.Y474C|CACNB4_uc010fnz.2_Missense_Mutation_p.Y430C	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	492					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TGAGTCAGGGTAATCTTCTTC	0.468												
CACNB4	785	broad.mit.edu	37	2	152737372	152737372	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:152737372A>G	uc002tya.2	-	4	400	c.332T>C	c.(331-333)GTG>GCG	p.V111A	CACNB4_uc002txy.2_Missense_Mutation_p.V77A|CACNB4_uc002txz.2_Missense_Mutation_p.V93A|CACNB4_uc010fnz.2_Missense_Mutation_p.V111A|CACNB4_uc002tyb.2_Missense_Mutation_p.V77A	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	111					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TGGAACAGGCACATCCTCGTC	0.463												
KCNJ3	3760	broad.mit.edu	37	2	155555962	155555962	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:155555962C>T	uc002tyv.1	+	1	870	c.675C>T	c.(673-675)TCC>TCT	p.S225S	KCNJ3_uc010zce.1_Silent_p.S225S	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	225	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	ACATGGTCTCCGCGCAGATTC	0.607												
TANC1	85461	broad.mit.edu	37	2	160087129	160087129	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:160087129C>T	uc002uag.2	+	27	5466	c.5192C>T	c.(5191-5193)GCG>GTG	p.A1731V	TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.A575V	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1731						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GATAAGACTGCGAGGTTCCAA	0.557												
TBR1	10716	broad.mit.edu	37	2	162274319	162274319	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:162274319C>T	uc002ubw.1	+	2	1127	c.825C>T	c.(823-825)GGC>GGT	p.G275G	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	275	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G275C(1)		ovary(1)|central_nervous_system(1)	2						TTCCTTGCGGCAAAGCGGACA	0.443												
LRP2	4036	broad.mit.edu	37	2	170044552	170044552	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:170044552G>A	uc002ues.2	-	49	9469	c.9256C>T	c.(9256-9258)CGC>TGC	p.R3086C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3086	Extracellular (Potential).|LDL-receptor class A 25.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCGATGCAGCGCCCATTGTCA	0.507												
UBR3	130507	broad.mit.edu	37	2	170806462	170806462	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:170806462G>A	uc010zdi.1	+	23	3432	c.3432G>A	c.(3430-3432)TCG>TCA	p.S1144S	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_5'UTR|UBR3_uc002uft.3_5'UTR	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1144					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						AAGCTGCATCGCAAAGTAGAA	0.383												
WIPF1	7456	broad.mit.edu	37	2	175432803	175432803	+	Splice_Site	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:175432803T>C	uc002uiy.2	-	7	1462	c.1130_splice	c.e7-1	p.G377_splice	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Splice_Site_p.G377_splice|WIPF1_uc010fqt.1_Splice_Site_p.G377_splice|WIPF1_uc002uiz.2_Splice_Site_p.G377_splice|WIPF1_uc002ujb.1_Splice_Site_p.G377_splice	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1						actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						GGAGGGGGCCTGGAGCAAAAA	0.552												
HOXD9	3235	broad.mit.edu	37	2	176987564	176987564	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:176987564A>G	uc010zex.1	+	1	152	c.68A>G	c.(67-69)GAC>GGC	p.D23G		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	23						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TACTACGTGGACTCGCTTATA	0.687												
TTN	7273	broad.mit.edu	37	2	179422756	179422756	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179422756T>C	uc010zfg.1	-	277	79845	c.79621A>G	c.(79621-79623)ACA>GCA	p.T26541A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T20236A|TTN_uc010zfi.1_Missense_Mutation_p.T20169A|TTN_uc010zfj.1_Missense_Mutation_p.T20044A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27468							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)			GCGTCAGCTGTAACACTTTCT	0.448												
TTN	7273	broad.mit.edu	37	2	179474066	179474066	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179474066A>G	uc010zfg.1	-	222	44491	c.44267T>C	c.(44266-44268)ATT>ACT	p.I14756T	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I8451T|TTN_uc010zfi.1_Missense_Mutation_p.I8384T|TTN_uc010zfj.1_Missense_Mutation_p.I8259T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15683							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)			GCTGTTGTCAATACTCAAACG	0.458												
TTN	7273	broad.mit.edu	37	2	179474465	179474465	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179474465C>A	uc010zfg.1	-	221	44205	c.43981G>T	c.(43981-43983)GGT>TGT	p.G14661C	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G8356C|TTN_uc010zfi.1_Missense_Mutation_p.G8289C|TTN_uc010zfj.1_Missense_Mutation_p.G8164C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15588							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)			TCACTAATACCCGCGGCGTTC	0.463												
TTN	7273	broad.mit.edu	37	2	179484758	179484758	+	Silent	SNP	G	G	A	rs147703145	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179484758G>A	uc010zfg.1	-	198	38906	c.38682C>T	c.(38680-38682)TGC>TGT	p.C12894C	TTN_uc010zfh.1_Silent_p.C6589C|TTN_uc010zfi.1_Silent_p.C6522C|TTN_uc010zfj.1_Silent_p.C6397C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13821							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)			CTTCTACCCCGCAAGCATATT	0.333												
TTN	7273	broad.mit.edu	37	2	179498235	179498235	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179498235C>T	uc010zfg.1	-	181	35371	c.35147G>A	c.(35146-35148)CGC>CAC	p.R11716H	TTN_uc010zfh.1_Missense_Mutation_p.R5411H|TTN_uc010zfi.1_Missense_Mutation_p.R5344H|TTN_uc010zfj.1_Missense_Mutation_p.R5219H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12643							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)			TTTTAAGATGCGGCGCAGGCC	0.438												
TTN	7273	broad.mit.edu	37	2	179640257	179640257	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179640257A>G	uc010zfg.1	-	28	6558	c.6334T>C	c.(6334-6336)TAC>CAC	p.Y2112H	TTN_uc010zfh.1_Missense_Mutation_p.Y2066H|TTN_uc010zfi.1_Missense_Mutation_p.Y2066H|TTN_uc010zfj.1_Missense_Mutation_p.Y2066H|TTN_uc002unb.2_Missense_Mutation_p.Y2112H|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2112							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)			CCATTTTTGTACCATTCACAT	0.473												
ZNF385B	151126	broad.mit.edu	37	2	180309623	180309623	+	Missense_Mutation	SNP	G	G	A	rs149254466	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:180309623G>A	uc002unn.3	-	9	1781	c.1177C>T	c.(1177-1179)CGG>TGG	p.R393W	ZNF385B_uc002unj.2_Missense_Mutation_p.R291W|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.R290W|ZNF385B_uc002unm.2_Missense_Mutation_p.R317W	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	zinc finger protein 385B isoform 1	393						nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CTCGGGCTCCGCTGGAGTTTG	0.498												
NUP35	129401	broad.mit.edu	37	2	184023042	184023042	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:184023042G>A	uc002upf.2	+	7	744	c.641G>A	c.(640-642)CGT>CAT	p.R214H	NUP35_uc010zfs.1_Missense_Mutation_p.R196H|NUP35_uc010zft.1_Missense_Mutation_p.R96H|NUP35_uc002upg.2_RNA	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	214	RRM Nup35-type.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane					0						ATGCATATTCGTTATCAATCT	0.323												
ITGAV	3685	broad.mit.edu	37	2	187541575	187541575	+	Silent	SNP	G	G	A	rs140775791	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:187541575G>A	uc002upq.2	+	29	3240	c.2964G>A	c.(2962-2964)GCG>GCA	p.A988A	ITGAV_uc010frs.2_Silent_p.A952A|ITGAV_uc010zfv.1_Silent_p.A942A	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	988	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTCAGCCAGCGCCCATGCCTG	0.423												
TFPI	7035	broad.mit.edu	37	2	188348879	188348879	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:188348879C>T	uc002upx.2	-	6	633	c.600G>A	c.(598-600)CCG>CCA	p.P200P	TFPI_uc002upy.2_Silent_p.P200P|TFPI_uc002upz.2_Silent_p.P196P|TFPI_uc002uqa.2_Silent_p.P200P|TFPI_uc002uqb.2_Silent_p.P200P	NM_006287	NP_006278	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor isoform a	200					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TGGTTGATTGCGGAGTCAGGG	0.378												
COL5A2	1290	broad.mit.edu	37	2	189907474	189907474	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:189907474G>T	uc002uqk.2	-	49	3772	c.3497C>A	c.(3496-3498)GCT>GAT	p.A1166D	COL5A2_uc010frx.2_Missense_Mutation_p.A742D	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1166					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGGGATTCCAGCACTTCCTTG	0.378												
OSGEPL1	64172	broad.mit.edu	37	2	190617701	190617701	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:190617701G>A	uc002uqz.1	-	6	1502	c.968C>T	c.(967-969)GCA>GTA	p.A323V	OSGEPL1_uc002ura.1_RNA	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	323					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			ACCACCAGATGCAACCTGAAG	0.378												
STAT4	6775	broad.mit.edu	37	2	191898219	191898219	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:191898219T>A	uc002usm.1	-	20	2103	c.1849A>T	c.(1849-1851)AGT>TGT	p.S617C	STAT4_uc002usn.1_Missense_Mutation_p.S617C|STAT4_uc010zgk.1_Missense_Mutation_p.S462C|STAT4_uc002uso.2_Missense_Mutation_p.S617C	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	617	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TATATACCACTTTCAGAATGG	0.373												
MYO1B	4430	broad.mit.edu	37	2	192228478	192228478	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:192228478A>G	uc010fsg.2	+	10	1045	c.790A>G	c.(790-792)ATG>GTG	p.M264V	MYO1B_uc002usq.2_Missense_Mutation_p.M264V|MYO1B_uc002usr.2_Missense_Mutation_p.M264V|MYO1B_uc002uss.1_Missense_Mutation_p.M264V	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	264	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGTGGGCTTTATGGATCATGA	0.388												
TMEFF2	23671	broad.mit.edu	37	2	193049142	193049142	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:193049142C>T	uc002utc.2	-	3	744	c.350G>A	c.(349-351)CGA>CAA	p.R117Q	TMEFF2_uc002utd.1_Missense_Mutation_p.R117Q	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	117	Kazal-like 1.|Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TGCAGCCTGTCGCAGGTAACA	0.473												
DNAH7	56171	broad.mit.edu	37	2	196605585	196605585	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:196605585T>C	uc002utj.3	-	64	11874	c.11773A>G	c.(11773-11775)ATT>GTT	p.I3925V	DNAH7_uc002uti.3_Missense_Mutation_p.I408V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3925					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						AATCCGTGAATGAAAACACCT	0.328												
SATB2	23314	broad.mit.edu	37	2	200173523	200173523	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:200173523C>T	uc002uuy.1	-	10	2517	c.1700G>A	c.(1699-1701)CGC>CAC	p.R567H	SATB2_uc010fsq.1_Missense_Mutation_p.R449H|SATB2_uc002uuz.1_Missense_Mutation_p.R567H|SATB2_uc002uva.1_Missense_Mutation_p.R567H	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	567						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTGTTGCATGCGTTCGCTGTG	0.597												
C2orf60	129450	broad.mit.edu	37	2	200813094	200813094	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:200813094A>G	uc002uvi.3	-	2	446	c.180T>C	c.(178-180)ATT>ATC	p.I60I	C2orf60_uc002uvj.3_5'UTR|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_Intron|C2orf60_uc002uvl.2_Silent_p.I60I	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	60					wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0						CAGCAACATGAATCTTTACTT	0.383												
CASP10	843	broad.mit.edu	37	2	202070608	202070608	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:202070608A>C	uc002uxl.1	+	7	1143	c.725A>C	c.(724-726)AAC>ACC	p.N242T	CASP10_uc010zhn.1_Intron|CASP10_uc002uxj.1_Missense_Mutation_p.N242T|CASP10_uc002uxk.1_Intron|CASP10_uc010fta.1_Intron|CASP10_uc002uxm.1_Intron|CASP10_uc010ftb.1_Intron	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	242					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6						TTTCTAGGTAACAGAGCCACA	0.443												
CASP8	841	broad.mit.edu	37	2	202141612	202141612	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:202141612T>A	uc002uxr.1	+	8	932	c.723T>A	c.(721-723)AAT>AAA	p.N241K	CASP8_uc002uxo.1_Missense_Mutation_p.S220T|CASP8_uc002uxp.1_Missense_Mutation_p.N258K|CASP8_uc002uxq.1_Missense_Mutation_p.N226K|CASP8_uc002uxt.1_Missense_Mutation_p.N300K|CASP8_uc002uxu.1_RNA|CASP8_uc002uxv.1_Missense_Mutation_p.N226K|CASP8_uc002uxw.1_Missense_Mutation_p.N226K|CASP8_uc002uxy.1_Missense_Mutation_p.N241K|CASP8_uc002uxx.1_Missense_Mutation_p.N226K|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Missense_Mutation_p.S102T	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	241					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						TCATCAACAATCACAATTTTG	0.433										HNSCC(4;0.00038)		
NRP2	8828	broad.mit.edu	37	2	206587232	206587232	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:206587232G>A	uc002vaw.2	+	4	1255	c.464G>A	c.(463-465)AGC>AAC	p.S155N	NRP2_uc002vat.2_Missense_Mutation_p.S155N|NRP2_uc002vau.2_Missense_Mutation_p.S155N|NRP2_uc002vav.2_Missense_Mutation_p.S155N|NRP2_uc002vax.2_Missense_Mutation_p.S155N|NRP2_uc002vay.2_Missense_Mutation_p.S155N|NRP2_uc010fud.2_Missense_Mutation_p.S155N	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	155	Extracellular (Potential).|CUB 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						AACTTCACAAGCCCCAACGGG	0.463												
INO80D	54891	broad.mit.edu	37	2	206874404	206874404	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:206874404G>A	uc002vaz.3	-	9	2062	c.1657C>T	c.(1657-1659)CGT>TGT	p.R553C		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	553					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						CGAGGTCCACGCCTTCTCTTC	0.542												
INO80D	54891	broad.mit.edu	37	2	206884472	206884472	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:206884472G>A	uc002vaz.3	-	7	1801	c.1396C>T	c.(1396-1398)CAT>TAT	p.H466Y		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	466					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						TGGAAACAATGTCTGGTGAAT	0.433												
FASTKD2	22868	broad.mit.edu	37	2	207636937	207636937	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:207636937A>T	uc002vbu.2	+	6	1557	c.1147A>T	c.(1147-1149)ATC>TTC	p.I383F	FASTKD2_uc002vbv.2_Missense_Mutation_p.I383F|FASTKD2_uc002vbx.2_Missense_Mutation_p.I383F|FASTKD2_uc002vbw.1_Missense_Mutation_p.I383F	NM_001136193	NP_001129665	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	383					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|skin(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAGAATAATGATCAACATATT	0.348												
CRYGD	1421	broad.mit.edu	37	2	208988911	208988911	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:208988911G>A	uc002vcn.3	-	2	293	c.177C>T	c.(175-177)CGC>CGT	p.R59R		NM_006891	NP_008822	P07320	CRGD_HUMAN	crystallin, gamma D	59	Beta/gamma crystallin 'Greek key' 2.		R -> H (in CACA; lowered solubility; crystallizes easily).		cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGTCGCCGCGGCGCAGGAAGT	0.652												
FN1	2335	broad.mit.edu	37	2	216274341	216274341	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:216274341C>T	uc002vfa.2	-	15	2510	c.2244G>A	c.(2242-2244)TCG>TCA	p.S748S	FN1_uc002vfb.2_Silent_p.S748S|FN1_uc002vfc.2_Silent_p.S748S|FN1_uc002vfd.2_Silent_p.S748S|FN1_uc002vfe.2_Silent_p.S748S|FN1_uc002vff.2_Silent_p.S748S|FN1_uc002vfg.2_Silent_p.S748S|FN1_uc002vfh.2_Silent_p.S748S|FN1_uc002vfi.2_Silent_p.S748S|FN1_uc002vfj.2_Silent_p.S748S	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	748	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCGGAATCCCGACACGGTGT	0.547												
MREG	55686	broad.mit.edu	37	2	216809644	216809644	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:216809644A>G	uc002vfo.2	-	5	883	c.587T>C	c.(586-588)GTT>GCT	p.V196A	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	196						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		CAGGCATGGAACCCCAGGCTT	0.498												
RPL37A	6168	broad.mit.edu	37	2	217366124	217366124	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:217366124G>A	uc002vgf.2	+	4	354	c.276G>A	c.(274-276)CAG>CAA	p.Q92Q	RPL37A_uc002vgg.2_3'UTR	NM_000998	NP_000989	P61513	RL37A_HUMAN	ribosomal protein L37a	92					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			ovary(1)	1		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAAGACCAGTAGACGCTCC	0.393												
TNS1	7145	broad.mit.edu	37	2	218686571	218686571	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:218686571G>T	uc002vgt.2	-	23	3550	c.3152C>A	c.(3151-3153)GCC>GAC	p.A1051D	TNS1_uc002vgr.2_Missense_Mutation_p.A1038D|TNS1_uc002vgs.2_Missense_Mutation_p.A1030D|TNS1_uc010zjv.1_Missense_Mutation_p.A1030D	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1051						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)		GGCCTGGGTGGCTGGAGCACT	0.647												
AAMP	14	broad.mit.edu	37	2	219131233	219131233	+	Silent	SNP	C	C	T	rs140610263		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:219131233C>T	uc002vhk.2	-	5	696	c.612G>A	c.(610-612)CCG>CCA	p.P204P	AAMP_uc002vhj.2_Silent_p.P185P|AAMP_uc010fvo.2_Silent_p.P204P|AAMP_uc002vhl.2_Silent_p.P205P	NM_001087	NP_001078	Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	204	WD 3.				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			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)		AGTCACCATTCGGGACTTTCC	0.622												
FEV	54738	broad.mit.edu	37	2	219846723	219846723	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:219846723A>G	uc002vji.1	-	3	965	c.383T>C	c.(382-384)TTC>TCC	p.F128S		NM_017521	NP_059991	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	128					cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(10)|FUS/FEV(2)	bone(10)|soft_tissue(2)	12		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)		CAGGCCCTGGAAGTCGAAGCG	0.522			T	EWSR1| FUS	Ewing sarcoma							
ATG9A	79065	broad.mit.edu	37	2	220085516	220085516	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:220085516C>T	uc002vke.1	-	15	2653	c.2467G>A	c.(2467-2469)GTG>ATG	p.V823M	ABCB6_uc002vkc.1_5'Flank|ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.V823M	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	823	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTTCGGGCACGGGCTCAGGG	0.607												
SPEG	10290	broad.mit.edu	37	2	220342646	220342646	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:220342646C>T	uc010fwg.2	+	22	4846	c.4846C>T	c.(4846-4848)CGG>TGG	p.R1616W		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1616	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCCTACTTGCGGCGCATAGT	0.647												
ACCN4	55515	broad.mit.edu	37	2	220402406	220402406	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:220402406G>A	uc002vma.2	+	8	1792	c.1778G>A	c.(1777-1779)CGG>CAG	p.R593Q	ACCN4_uc002vlz.2_Missense_Mutation_p.R612Q|ACCN4_uc002vmb.2_3'UTR	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	593	Cytoplasmic (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		ACCCCCCTGCGGACCTCCACT	0.607												
OBSL1	23363	broad.mit.edu	37	2	220418400	220418400	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:220418400C>A	uc010fwk.2	-	16	4942	c.4885G>T	c.(4885-4887)GTG>TTG	p.V1629L		NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1629	Ig-like 13.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACGATGGTCACTGGGACCTCT	0.612											OREG0003989	type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
WDFY1	57590	broad.mit.edu	37	2	224746715	224746715	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:224746715G>A	uc002vnq.2	-	10	1059	c.1008C>T	c.(1006-1008)GGC>GGT	p.G336G		NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	336	FYVE-type.					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GGAACTCGAAGCCCATGACTG	0.493												
DOCK10	55619	broad.mit.edu	37	2	225666646	225666646	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:225666646G>A	uc010fwz.1	-	40	4619	c.4380C>T	c.(4378-4380)GAC>GAT	p.D1460D	DOCK10_uc002vob.2_Silent_p.D1454D|DOCK10_uc002voa.2_Silent_p.D116D|DOCK10_uc002voc.2_Silent_p.D314D	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1460							GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCATGGTATTGTCTAACATCT	0.378												
IRS1	3667	broad.mit.edu	37	2	227663330	227663330	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:227663330G>A	uc002voh.3	-	1	177	c.125C>T	c.(124-126)GCG>GTG	p.A42V		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	42	PH.|Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTCGAGGCGCGCCGGGCCCCC	0.632												
HTR2B	3357	broad.mit.edu	37	2	231973769	231973769	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:231973769C>T	uc002vro.2	-	4	1413	c.908G>A	c.(907-909)CGA>CAA	p.R303Q	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.R236Q	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	303	Cytoplasmic (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	GGATGTTCTTCGCATAAGTGT	0.468												
NGEF	25791	broad.mit.edu	37	2	233834974	233834974	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:233834974C>T	uc002vts.2	-	3	581	c.333G>A	c.(331-333)ATG>ATA	p.M111I		NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	111	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)|skin(1)	7		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGCAAGGAGGCATTCTGCTCC	0.468												
UGT1A6	54578	broad.mit.edu	37	2	234602124	234602124	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:234602124C>T	uc002vuv.3	+	1	613	c.474C>T	c.(472-474)ATC>ATT	p.I158I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Silent_p.I158I	NM_001072	NP_001063	P19224	UD16_HUMAN	UDP glycosyltransferase 1 family, polypeptide A6	158					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GTGGGGTGATCCTGGCTGAGT	0.532												
RBM44	375316	broad.mit.edu	37	2	238728937	238728937	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:238728937G>A	uc002vxi.3	+	5	1991	c.1859G>A	c.(1858-1860)CGT>CAT	p.R620H		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	619							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CAGATGTGTCGTCGCCATTGT	0.348												
ESPNL	339768	broad.mit.edu	37	2	239038938	239038938	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:239038938G>A	uc002vxq.3	+	9	1693	c.1583G>A	c.(1582-1584)AGT>AAT	p.S528N	ESPNL_uc010fyw.2_Missense_Mutation_p.S224N	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	528	Potential.									pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GAGTATGAGAGTGAGCTGGGC	0.662												
HDLBP	3069	broad.mit.edu	37	2	242169295	242169295	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:242169295C>A	uc002waz.2	-	27	3901	c.3673G>T	c.(3673-3675)GGC>TGC	p.G1225C	HDLBP_uc002wba.2_Missense_Mutation_p.G1225C|HDLBP_uc002wbb.2_Missense_Mutation_p.G1177C	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1225					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)		ACCACAAAGCCTCTGGAAGGT	0.642												
SRXN1	140809	broad.mit.edu	37	20	629410	629410	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:629410G>A	uc002wea.2	-	2	423	c.362C>T	c.(361-363)ACT>ATT	p.T121I	SRXN1_uc002web.2_RNA	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1 homolog	121					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			ovary(1)	1						GTCTGAGAGAGTGGACTGGAC	0.597												
SNPH	9751	broad.mit.edu	37	20	1277814	1277814	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:1277814C>T	uc002wes.2	+	4	312	c.76C>T	c.(76-78)CGG>TGG	p.R26W	SNPH_uc002wet.2_Missense_Mutation_p.R70W	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	26					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						TGTGAGCGTGCGGGATGCCTA	0.637												
CDC25B	994	broad.mit.edu	37	20	3783801	3783801	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:3783801T>C	uc002wjn.2	+	13	2082	c.1304T>C	c.(1303-1305)TTT>TCT	p.F435S	CDC25B_uc010zqk.1_Missense_Mutation_p.F371S|CDC25B_uc010zql.1_Missense_Mutation_p.F357S|CDC25B_uc010zqm.1_Missense_Mutation_p.F344S|CDC25B_uc002wjl.2_Missense_Mutation_p.F323S|CDC25B_uc002wjm.2_Missense_Mutation_p.F323S|CDC25B_uc002wjo.2_Missense_Mutation_p.F421S|CDC25B_uc002wjp.2_Missense_Mutation_p.F394S|CDC25B_uc002wjq.2_Missense_Mutation_p.F235S|CDC25B_uc010gbc.2_Missense_Mutation_p.F16S	NM_021873	NP_068659	P30305	MPIP2_HUMAN	cell division cycle 25B isoform 1	435	Rhodanese.				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|ovary(2)	5						GTGGATAAGTTTGTGATTGTA	0.542												
MAVS	57506	broad.mit.edu	37	20	3844972	3844972	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:3844972G>A	uc002wjw.3	+	6	864	c.695G>A	c.(694-696)CGT>CAT	p.R232H	MAVS_uc002wjx.3_Missense_Mutation_p.R91H|MAVS_uc002wjy.3_5'UTR	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN	virus-induced signaling adapter	232	Cytoplasmic (Probable).				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity				0						CCCCTGGCCCGTTCCACCCCC	0.622												
SMOX	54498	broad.mit.edu	37	20	4164225	4164225	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:4164225C>T	uc002wkm.1	+	6	1655	c.1454C>T	c.(1453-1455)ACG>ATG	p.T485M	SMOX_uc002wkk.1_Missense_Mutation_p.T432M|SMOX_uc002wkl.1_Missense_Mutation_p.T432M|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.T485M|SMOX_uc010zqo.1_Missense_Mutation_p.T409M|SMOX_uc002wko.1_Missense_Mutation_p.T485M	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	485					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	TATTCATACACGCAGGTGGGC	0.612												
PRNP	5621	broad.mit.edu	37	20	4680491	4680491	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:4680491G>A	uc002wku.2	+	2	988	c.625G>A	c.(625-627)GTG>ATG	p.V209M	PRNP_uc002wkv.2_Missense_Mutation_p.V209M|PRNP_uc002wkw.2_Missense_Mutation_p.V209M|PRNP_uc002wkx.2_Missense_Mutation_p.V209M|PRNP_uc002wkt.1_Missense_Mutation_p.V179M|PRNP_uc002wky.2_Missense_Mutation_p.V209M|PRNP_uc010gbe.1_Missense_Mutation_p.V209M	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	209	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)	GATGGAGCGCGTGGTTGAGCA	0.532												
SLC23A2	9962	broad.mit.edu	37	20	4850638	4850638	+	Silent	SNP	G	G	A	rs147469332	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:4850638G>A	uc002wlg.1	-	12	1539	c.1164C>T	c.(1162-1164)GTC>GTT	p.V388V	SLC23A2_uc010zqr.1_Silent_p.V273V|SLC23A2_uc002wlh.1_Silent_p.V388V|SLC23A2_uc002wli.2_Silent_p.V387V	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	388	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						TGATGCTGGCGACCACGGCAC	0.592												
BMP2	650	broad.mit.edu	37	20	6759236	6759236	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:6759236G>T	uc002wmu.1	+	3	1476	c.691G>T	c.(691-693)GCC>TCC	p.A231S		NM_001200	NP_001191	P12643	BMP2_HUMAN	bone morphogenetic protein 2 preproprotein	231					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			ovary(1)|breast(1)	2					Simvastatin(DB00641)	GGTGGAAGTGGCCCACTTGGA	0.517												
PAK7	57144	broad.mit.edu	37	20	9520201	9520201	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:9520201T>C	uc002wnl.2	-	11	2613	c.2068A>G	c.(2068-2070)ACA>GCA	p.T690A	PAK7_uc002wnk.2_Missense_Mutation_p.T690A|PAK7_uc002wnj.2_Missense_Mutation_p.T690A|PAK7_uc010gby.1_Missense_Mutation_p.T603A	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	690	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			TCCTGGGCTGTTGCTCTCTGA	0.507												
PCSK2	5126	broad.mit.edu	37	20	17417441	17417441	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:17417441C>T	uc002wpm.2	+	8	1118	c.798C>T	c.(796-798)AGC>AGT	p.S266S	PCSK2_uc002wpl.2_Silent_p.S247S|PCSK2_uc010zrm.1_Silent_p.S231S	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	266	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACATCTACAGCGCCAGCTGGG	0.612												
RALGAPA2	57186	broad.mit.edu	37	20	20586055	20586055	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:20586055G>A	uc002wrz.2	-	15	1945	c.1802C>T	c.(1801-1803)ACG>ATG	p.T601M	RALGAPA2_uc010gcx.2_Missense_Mutation_p.T305M|RALGAPA2_uc010zsg.1_Missense_Mutation_p.T2M	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	601					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TACCATGAGCGTCTAAAACCA	0.393												
TPX2	22974	broad.mit.edu	37	20	30370135	30370135	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:30370135G>A	uc002wwp.1	+	11	1836	c.1138G>A	c.(1138-1140)GCT>ACT	p.A380T	TPX2_uc010gdv.1_Missense_Mutation_p.A416T	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	380					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCGTGCACGGGCTGTGACCTG	0.507												
MYL9	10398	broad.mit.edu	37	20	35176475	35176475	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:35176475C>T	uc002xfl.1	+	3	319	c.225C>T	c.(223-225)AGC>AGT	p.S75S	uc002xfk.3_Intron|MYL9_uc002xfm.1_Intron	NM_006097	NP_006088	P24844	MYL9_HUMAN	myosin regulatory light chain 9 isoform a	75					axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle				0	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCATGATGAGCGAGGCCCCGG	0.612												
DHX35	60625	broad.mit.edu	37	20	37638972	37638972	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:37638972T>C	uc002xjh.2	+	13	1283	c.1272T>C	c.(1270-1272)CGT>CGC	p.R424R	DHX35_uc010zwa.1_Silent_p.R269R|DHX35_uc010zwb.1_Silent_p.R269R|DHX35_uc010zwc.1_Silent_p.R393R	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	424	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				AGATGCAGCGTAGTAATTTGG	0.488												
PTPRT	11122	broad.mit.edu	37	20	41306614	41306614	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:41306614G>A	uc002xkg.2	-	7	1229	c.1045C>T	c.(1045-1047)CAT>TAT	p.H349Y	PTPRT_uc010ggj.2_Missense_Mutation_p.H349Y	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	349	Extracellular (Potential).|Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTCCAGATGCCACAGCTTA	0.602												
MYBL2	4605	broad.mit.edu	37	20	42302493	42302493	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:42302493C>T	uc002xlb.1	+	2	283	c.68C>T	c.(67-69)CCG>CTG	p.P23L	MYBL2_uc010zwj.1_Missense_Mutation_p.P23L|MYBL2_uc002xla.1_Missense_Mutation_p.P23L	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	23						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAGATGTGCCGGAGCAGAGG	0.542												
JPH2	57158	broad.mit.edu	37	20	42788479	42788479	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:42788479G>A	uc002xli.1	-	2	1821	c.948C>T	c.(946-948)GGC>GGT	p.G316G		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	316	MORN 8.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCAGCCACTCGCCCTCGTAGC	0.662												
HNF4A	3172	broad.mit.edu	37	20	43057109	43057109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:43057109C>T	uc002xma.2	+	9	1353	c.1264C>T	c.(1264-1266)CGA>TGA	p.R422*	HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Nonsense_Mutation_p.R400*|HNF4A_uc002xlz.2_Intron|HNF4A_uc010ggq.2_Nonsense_Mutation_p.R415*	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	422					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGAGTGGCCCCGACCCAGGGG	0.557												
ZNF334	55713	broad.mit.edu	37	20	45140720	45140720	+	Splice_Site	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:45140720C>T	uc002xsc.2	-	2	205	c.21_splice	c.e2+1	p.Q7_splice	ZNF334_uc002xsd.2_Splice_Site|ZNF334_uc010ghl.2_Splice_Site	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				GAGCAACTTACCTGAAATTTT	0.378												
DDX27	55661	broad.mit.edu	37	20	47845427	47845427	+	Splice_Site	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:47845427T>C	uc002xuh.2	+	8	1034	c.973_splice	c.e8+2	p.G325_splice		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGGCTGTGGGTGAGTTTCTGG	0.622												
FAM65C	140876	broad.mit.edu	37	20	49214161	49214161	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:49214161G>A	uc002xvm.2	-	14	2052	c.1734C>T	c.(1732-1734)TTC>TTT	p.F578F	FAM65C_uc010zyt.1_Silent_p.F582F|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.F578F	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	578										ovary(2)	2						CATCCAGGGCGAAGTCGGCAT	0.647												
MOCS3	27304	broad.mit.edu	37	20	49576679	49576679	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:49576679T>C	uc002xvy.1	+	1	1317	c.1300T>C	c.(1300-1302)TTA>CTA	p.L434L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	434	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						AGCTCAAGAGTTAGACCCTTT	0.493												
KCNG1	3755	broad.mit.edu	37	20	49626567	49626567	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:49626567G>A	uc002xwa.3	-	2	604	c.309C>T	c.(307-309)AAC>AAT	p.N103N	KCNG1_uc002xwb.2_Silent_p.N103N	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	103	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CATCGCACACGTTGAGGATGT	0.637												
ZFP64	55734	broad.mit.edu	37	20	50768821	50768821	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:50768821T>C	uc002xwl.2	-	6	2259	c.1910A>G	c.(1909-1911)AAC>AGC	p.N637S	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.N635S|ZFP64_uc002xwn.2_Missense_Mutation_p.N583S	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						CACTGCGATGTTCTGGCCTCC	0.547												
ZFP64	55734	broad.mit.edu	37	20	50769100	50769100	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:50769100C>T	uc002xwl.2	-	6	1980	c.1631G>A	c.(1630-1632)CGC>CAC	p.R544H	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.R542H|ZFP64_uc002xwn.2_Missense_Mutation_p.R490H	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACTGACCTGGCGCAGGATCTG	0.682												
ZFP64	55734	broad.mit.edu	37	20	50769117	50769117	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:50769117G>T	uc002xwl.2	-	6	1963	c.1614C>A	c.(1612-1614)AGC>AGA	p.S538R	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.S536R|ZFP64_uc002xwn.2_Missense_Mutation_p.S484R	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TCTGCAGCCGGCTGTTCCCTG	0.682												
CSTF1	1477	broad.mit.edu	37	20	54978560	54978560	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:54978560A>G	uc002xxl.1	+	6	1273	c.1073A>G	c.(1072-1074)CAG>CGG	p.Q358R	CSTF1_uc002xxm.1_Missense_Mutation_p.Q358R|CSTF1_uc002xxn.1_Missense_Mutation_p.Q358R|CSTF1_uc002xxo.1_Missense_Mutation_p.Q301R	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	358					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)			CACCGGACACAGGCTGTGTTT	0.562												
CDH4	1002	broad.mit.edu	37	20	60348097	60348097	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:60348097T>C	uc002ybn.1	+	4	449	c.435T>C	c.(433-435)TCT>TCC	p.S145S	CDH4_uc002ybp.1_Silent_p.S71S	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	145					adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGGACCCCTCTCCGCCTCCGA	0.597												
CDH4	1002	broad.mit.edu	37	20	60498692	60498692	+	Missense_Mutation	SNP	G	G	A	rs148441133	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:60498692G>A	uc002ybn.1	+	10	1572	c.1558G>A	c.(1558-1560)GTG>ATG	p.V520M	CDH4_uc002ybp.1_Missense_Mutation_p.V446M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	520	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGGAGGGCGTGCCCCCCGG	0.627												
GTPBP5	26164	broad.mit.edu	37	20	60770906	60770906	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:60770906G>A	uc002yce.3	+	3	291	c.253G>A	c.(253-255)GGA>AGA	p.G85R	GTPBP5_uc011aab.1_5'UTR|GTPBP5_uc011aac.1_5'UTR|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_5'UTR|GTPBP5_uc011aaf.1_Missense_Mutation_p.G85R|GTPBP5_uc011aag.1_Missense_Mutation_p.G85R	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	GTP binding protein 5	85	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding				0	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			TGGAGGAAACGGAGGCGCTGG	0.547												
DIDO1	11083	broad.mit.edu	37	20	61510982	61510982	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:61510982G>A	uc002ydr.1	-	16	6590	c.6326C>T	c.(6325-6327)GCG>GTG	p.A2109V	DIDO1_uc002yds.1_Missense_Mutation_p.A2109V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	2109	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GTCCTCGGACGCCCGGCCCTG	0.428												
DIDO1	11083	broad.mit.edu	37	20	61512957	61512957	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:61512957C>A	uc002ydr.1	-	16	4615	c.4351G>T	c.(4351-4353)GAC>TAC	p.D1451Y	DIDO1_uc002yds.1_Missense_Mutation_p.D1451Y	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1451					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTTCTCACGTCGGCACACATC	0.597												
NKAIN4	128414	broad.mit.edu	37	20	61881322	61881322	+	Missense_Mutation	SNP	C	C	A	rs147137550	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:61881322C>A	uc002yek.2	-	2	247	c.157G>T	c.(157-159)GGC>TGC	p.G53C	NKAIN4_uc010gkd.1_5'UTR	NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	53	Helical; (Potential).					integral to membrane|plasma membrane					0	all_cancers(38;2.72e-09)					TGGATGGTGCCGAAGAGTCCC	0.622												
ARFGAP1	55738	broad.mit.edu	37	20	61907543	61907543	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:61907543T>G	uc002yem.2	+	3	273	c.161T>G	c.(160-162)GTT>GGT	p.V54G	ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Missense_Mutation_p.V54G|ARFGAP1_uc002yen.2_Missense_Mutation_p.V54G	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	54	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)					GGGCTTGGGGTTCACCTCAGG	0.617												
PRIC285	85441	broad.mit.edu	37	20	62194495	62194495	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:62194495C>T	uc002yfm.2	-	9	6572	c.5680G>A	c.(5680-5682)GGC>AGC	p.G1894S	PRIC285_uc002yfl.1_Missense_Mutation_p.G1325S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1894					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			ACCAGGAAGCCGTGCTGCAGG	0.692												
RTEL1	51750	broad.mit.edu	37	20	62321137	62321137	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:62321137C>T	uc002yfu.1	+	24	2403	c.2060C>T	c.(2059-2061)GCG>GTG	p.A687V	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.A687V|RTEL1_uc011abd.1_Missense_Mutation_p.A711V|RTEL1_uc011abe.1_Missense_Mutation_p.A464V|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	687					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGGCAGCAGGCGTCCAGGGCT	0.692												
ZNF512B	57473	broad.mit.edu	37	20	62591325	62591325	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:62591325G>A	uc002yhl.1	-	17	2649	c.2595C>T	c.(2593-2595)GAC>GAT	p.D865D		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	865					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGGCCAGTCGTCCCGGCGCG	0.657												
APP	351	broad.mit.edu	37	21	27425591	27425591	+	Silent	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:27425591A>C	uc002ylz.2	-	4	629	c.429T>G	c.(427-429)GTT>GTG	p.V143V	APP_uc010glk.2_Silent_p.V138V|APP_uc002yma.2_Silent_p.V143V|APP_uc011ach.1_Silent_p.V87V|APP_uc002ymb.2_Silent_p.V143V|APP_uc010glj.2_Silent_p.V87V|APP_uc011aci.1_Silent_p.V108V|APP_uc011acj.1_Silent_p.V143V	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	143	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				GAGTTTCGCAAACATCCATCC	0.453												
ADAMTS5	11096	broad.mit.edu	37	21	28305340	28305340	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:28305340T>C	uc002ymg.2	-	5	2442	c.1713A>G	c.(1711-1713)GGA>GGG	p.G571G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	571	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ATCCCCAAGATCCCCAGTTGC	0.463												
RNF160	26046	broad.mit.edu	37	21	30324485	30324485	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:30324485T>C	uc002ymr.2	-	18	3492	c.3479A>G	c.(3478-3480)GAA>GGA	p.E1160G		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1114							ligase activity|zinc ion binding				0						AGAATACCTTTCTTTTCTCTT	0.323												
KRTAP19-5	337972	broad.mit.edu	37	21	31874344	31874344	+	Missense_Mutation	SNP	C	C	T	rs150866063		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:31874344C>T	uc011ada.1	-	1	65	c.65G>A	c.(64-66)GGC>GAC	p.G22D		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	22						intermediate filament	protein binding				0						ATAGCCATAGCCCAGGTCATC	0.582												
TIAM1	7074	broad.mit.edu	37	21	32513434	32513434	+	Splice_Site	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:32513434A>G	uc002yow.1	-	23	4246	c.3774_splice	c.e23+1	p.E1258_splice	TIAM1_uc011adk.1_Splice_Site_p.E1258_splice|TIAM1_uc011adl.1_Splice_Site_p.E1198_splice	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1						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						GGGGACCCTCACCTCTTTTTT	0.393												
TIAM1	7074	broad.mit.edu	37	21	32582396	32582396	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:32582396C>T	uc002yow.1	-	12	2825	c.2353G>A	c.(2353-2355)GAC>AAC	p.D785N	TIAM1_uc011adk.1_Missense_Mutation_p.D785N|TIAM1_uc011adl.1_Missense_Mutation_p.D760N	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	785	RBD.				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						CGTGCAGTGTCGCCTGGCCGG	0.547												
SFRS15	57466	broad.mit.edu	37	21	33044413	33044413	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:33044413A>C	uc002ypd.2	-	20	3169	c.2743T>G	c.(2743-2745)TTT>GTT	p.F915V	SFRS15_uc002ype.2_Missense_Mutation_p.F893V|SFRS15_uc010glu.2_Missense_Mutation_p.F900V	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	915						nucleus	nucleotide binding|RNA binding				0						GGCCTAACAAAGGGGCCATGC	0.577												
HUNK	30811	broad.mit.edu	37	21	33340661	33340661	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:33340661C>T	uc002yph.2	+	6	1334	c.974C>T	c.(973-975)ACG>ATG	p.T325M		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	325					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						GAGAATTACACGGGCAAAGTG	0.547												
CRYZL1	9946	broad.mit.edu	37	21	34971554	34971554	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:34971554G>A	uc011adw.1	-	9	758	c.578C>T	c.(577-579)GCC>GTC	p.A193V	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.A217V|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysq.2_5'Flank	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	193					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						AATCACTCGGGCTGTAAAGGA	0.388												
ITSN1	6453	broad.mit.edu	37	21	35169896	35169896	+	Silent	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:35169896A>C	uc002yta.1	+	18	2434	c.2166A>C	c.(2164-2166)GCA>GCC	p.A722A	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.A722A|ITSN1_uc010gmg.2_Silent_p.A685A|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.A722A|ITSN1_uc010gmi.2_Silent_p.A685A|ITSN1_uc010gmj.2_Silent_p.A606A|ITSN1_uc002ysy.2_Silent_p.A722A|ITSN1_uc002ysx.2_Silent_p.A685A|ITSN1_uc002ytb.1_Silent_p.A722A|ITSN1_uc002ytc.1_Silent_p.A722A|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.A685A|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.A722A|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.A656A	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	722					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						CTGTCCAGGCACCCTGGTCCA	0.463												
RUNX1	861	broad.mit.edu	37	21	36252918	36252918	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:36252918G>A	uc002yuh.2	-	2	1941	c.363C>T	c.(361-363)ACC>ACT	p.T121T	RUNX1_uc002yui.2_Silent_p.T121T|RUNX1_uc010gmu.2_Silent_p.T148T|RUNX1_uc010gmv.2_Silent_p.T148T|RUNX1_uc002yuj.3_Silent_p.T16T|RUNX1_uc002yuk.3_Silent_p.T148T|RUNX1_uc002yum.1_Silent_p.T16T|RUNX1_uc010gmw.1_Silent_p.T148T|RUNX1_uc002yuo.1_Silent_p.T121T|RUNX1_uc002yur.1_Silent_p.T16T	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	121	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.L121fs*2(1)|p.A149fs*2(1)		haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						TCATGGCTGCGGTAGCATTTC	0.483			T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies			
CHAF1B	8208	broad.mit.edu	37	21	37788576	37788576	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:37788576C>T	uc002yvj.2	+	14	1730	c.1592C>T	c.(1591-1593)ACG>ATG	p.T531M		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	531					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2						GTTGCAGAGACGCCTGGAGAC	0.488												
KCNJ15	3772	broad.mit.edu	37	21	39671314	39671314	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:39671314A>G	uc002ywv.2	+	4	433	c.131A>G	c.(130-132)GAT>GGT	p.D44G	KCNJ15_uc002yww.2_Missense_Mutation_p.D44G|KCNJ15_uc002ywx.2_Missense_Mutation_p.D44G	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	44	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						GACAAAGTGGATGGCATATAC	0.537												
ETS2	2114	broad.mit.edu	37	21	40194777	40194777	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:40194777C>T	uc002yxg.2	+	10	1570	c.1374C>T	c.(1372-1374)CAC>CAT	p.H458H	ETS2_uc002yxf.2_Silent_p.H598H	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	458					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				AGGAACTGCACGCCATCCTGG	0.647												
DSCAM	1826	broad.mit.edu	37	21	41416171	41416171	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:41416171C>T	uc002yyq.1	-	31	5669	c.5217G>A	c.(5215-5217)GGG>GGA	p.G1739G	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1739	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCGCTGTGGGCCCAGCCTTGG	0.592												
BACE2	25825	broad.mit.edu	37	21	42647470	42647470	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:42647470G>A	uc002yyw.2	+	9	1939	c.1476G>A	c.(1474-1476)CTG>CTA	p.L492L	BACE2_uc002yyx.2_Silent_p.L442L|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_RNA	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	492	Helical; (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TGCTGCTGCTGCCGTTCCGGT	0.567												
TMPRSS2	7113	broad.mit.edu	37	21	42866364	42866364	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:42866364C>T	uc002yzj.2	-	3	291	c.157G>A	c.(157-159)GCC>ACC	p.A53T	TMPRSS2_uc010gor.2_Missense_Mutation_p.A90T|TMPRSS2_uc010gos.1_Missense_Mutation_p.A53T	NM_005656	NP_005647	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 2	53	Cytoplasmic (Potential).				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	prostate(2523)|central_nervous_system(1)	2524		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				ACCCTCGGGGCGTACTGGGGC	0.612			T	ERG|ETV1|ETV4|ETV5	prostate 							
RRP1B	23076	broad.mit.edu	37	21	45107917	45107917	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:45107917C>T	uc002zdk.2	+	13	1776	c.1662C>T	c.(1660-1662)CCC>CCT	p.P554P	RRP1B_uc002zdl.2_Silent_p.P87P	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1 homolog B	554					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			skin(1)	1				STAD - Stomach adenocarcinoma(101;0.178)		CCACAGGCCCCGCAGAGGGGG	0.662												
PWP2	5822	broad.mit.edu	37	21	45540348	45540348	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:45540348C>T	uc002zeb.2	+	11	1398	c.1308C>T	c.(1306-1308)GAC>GAT	p.D436D		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	436	WD 9.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CATCCATGGACGGGACCGTGC	0.597												
AIRE	326	broad.mit.edu	37	21	45711065	45711065	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:45711065C>A	uc002zei.2	+	8	1094	c.967C>A	c.(967-969)CTG>ATG	p.L323M	AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Missense_Mutation_p.L126M|AIRE_uc010gpr.2_Missense_Mutation_p.L126M	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	323	PHD-type 1.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		CCTGGCCTGCCTGTCCCCTCC	0.682									Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy			
KRTAP10-9	386676	broad.mit.edu	37	21	46047185	46047185	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:46047185G>A	uc002zfp.3	+	1	146	c.97G>A	c.(97-99)GCC>ACC	p.A33T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	33	2.|25 X 5 AA repeats of C-C-X(3).					keratin filament					0						CCCCTGCTGCGCCACCAGCTG	0.697												
KRTAP10-10	353333	broad.mit.edu	37	21	46057386	46057386	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:46057386C>T	uc002zfq.2	+	1	114	c.52C>T	c.(52-54)CGG>TGG	p.R18W	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	18						keratin filament					0						TGACTCTTGGCGGGTAGTCGA	0.617												
COL6A1	1291	broad.mit.edu	37	21	47423577	47423577	+	Missense_Mutation	SNP	G	G	A	rs141713954		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:47423577G>A	uc002zhu.1	+	35	2839	c.2737G>A	c.(2737-2739)GCC>ACC	p.A913T	COL6A1_uc010gqd.1_Missense_Mutation_p.A244T|COL6A1_uc002zhv.1_Missense_Mutation_p.A244T|COL6A1_uc002zhw.1_Missense_Mutation_p.A7T	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	913	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)	TATCAACGACGCCACCGACGT	0.647												
MCM3AP	8888	broad.mit.edu	37	21	47697478	47697478	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:47697478G>A	uc002zir.1	-	5	1857	c.1821C>T	c.(1819-1821)TAC>TAT	p.Y607Y		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	607					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CAAGCAGGCGGTACTTCTCCT	0.592												
IL17RA	23765	broad.mit.edu	37	22	17581248	17581248	+	Missense_Mutation	SNP	C	C	T	rs145378071	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:17581248C>T	uc002zly.2	+	5	560	c.427C>T	c.(427-429)CGT>TGT	p.R143C	IL17RA_uc010gqt.2_Missense_Mutation_p.R143C	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	143	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TCTTCAGTGGCGTTTTACCTT	0.547												
CECR1	51816	broad.mit.edu	37	22	17688177	17688177	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:17688177G>A	uc002zmk.1	-	2	538	c.326C>T	c.(325-327)GCT>GTT	p.A109V	CECR1_uc010gqu.1_Missense_Mutation_p.A109V|CECR1_uc011agi.1_Missense_Mutation_p.A67V|CECR1_uc011agj.1_Missense_Mutation_p.A67V	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	109					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GTGCAAGGCAGCCCCTGGAGA	0.577												
CECR1	51816	broad.mit.edu	37	22	17690434	17690434	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:17690434C>T	uc002zmk.1	-	1	346	c.134G>A	c.(133-135)CGG>CAG	p.R45Q	CECR1_uc010gqu.1_Missense_Mutation_p.R45Q|CECR1_uc011agi.1_Missense_Mutation_p.R3Q|CECR1_uc011agj.1_Missense_Mutation_p.R3Q	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	45	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCCCCCCAGCCGCATCATCTT	0.542												
SEPT5	5413	broad.mit.edu	37	22	19709399	19709399	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:19709399C>T	uc002zpv.1	+	10	994	c.869C>T	c.(868-870)ACG>ATG	p.T290M	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_Translation_Start_Site|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	290					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)					CTCATCCGCACGCATATGCAC	0.657												
COMT	1312	broad.mit.edu	37	22	19956143	19956143	+	Missense_Mutation	SNP	C	C	T	rs139449932	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:19956143C>T	uc002zqu.2	+	6	949	c.700C>T	c.(700-702)CGC>TGC	p.R234C	COMT_uc002zqv.2_Missense_Mutation_p.R234C|COMT_uc002zqw.2_Missense_Mutation_p.R234C|COMT_uc011ahd.1_Missense_Mutation_p.R234C|COMT_uc002zqx.2_Missense_Mutation_p.R234C	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	234					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	AGCACACGTGCGCGGGAGCAG	0.607												
PI4KA	5297	broad.mit.edu	37	22	21082088	21082088	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:21082088C>T	uc002zsz.3	-	40	4804	c.4573G>A	c.(4573-4575)GTT>ATT	p.V1525I	PI4KA_uc002zsy.3_Missense_Mutation_p.V335I	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1525					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACATCACTAACGGCTCCCGGG	0.532												
LZTR1	8216	broad.mit.edu	37	22	21343941	21343941	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:21343941C>T	uc002zto.2	+	7	724	c.621C>T	c.(619-621)CTC>CTT	p.L207L	LZTR1_uc002ztn.2_Silent_p.L166L|LZTR1_uc011ahy.1_Silent_p.L188L|LZTR1_uc010gsr.1_Silent_p.L78L	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	207	Kelch 3.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAATTGGCCTCCAGGACCGAG	0.353												
ZNF70	7621	broad.mit.edu	37	22	24086165	24086165	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:24086165C>T	uc002zxs.2	-	2	1624	c.1163G>A	c.(1162-1164)GGC>GAC	p.G388D	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	388						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GGGCTTCTTGCCGGTGTGGAT	0.587												
SNRPD3	6634	broad.mit.edu	37	22	24964007	24964007	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:24964007T>C	uc003aam.1	+	3	622	c.182T>C	c.(181-183)GTA>GCA	p.V61A	SNRPD3_uc011aju.1_Missense_Mutation_p.V61A	NM_004175	NP_004166	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein polypeptide D3	61					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			ovary(1)	1						CTGGAGCAGGTATACATCCGT	0.468												
MYO18B	84700	broad.mit.edu	37	22	26423370	26423370	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:26423370C>T	uc003abz.1	+	43	7680	c.7430C>T	c.(7429-7431)ACG>ATG	p.T2477M	MYO18B_uc003aca.1_Missense_Mutation_p.T2358M|MYO18B_uc010guy.1_Missense_Mutation_p.T2359M|MYO18B_uc010guz.1_Missense_Mutation_p.T2357M|MYO18B_uc011aka.1_Missense_Mutation_p.T1631M|MYO18B_uc011akb.1_Missense_Mutation_p.T1990M|MYO18B_uc010gva.1_Missense_Mutation_p.T460M|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2477						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CACTTTGAAACGGAAGAGGCT	0.557												
SEZ6L	23544	broad.mit.edu	37	22	26747187	26747187	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:26747187G>A	uc003acb.2	+	12	2733	c.2577G>A	c.(2575-2577)ACG>ACA	p.T859T	SEZ6L_uc003acc.2_Silent_p.T859T|SEZ6L_uc011akc.1_Silent_p.T859T|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Silent_p.T859T|SEZ6L_uc003ace.2_Silent_p.T859T|SEZ6L_uc003acf.1_Silent_p.T632T|SEZ6L_uc010gvc.1_Silent_p.T632T|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	859	Sushi 4.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CCATCTGGACGTCTCGCCTGC	0.532												
MTMR3	8897	broad.mit.edu	37	22	30413941	30413941	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:30413941G>A	uc003agv.3	+	16	2028	c.1700G>A	c.(1699-1701)CGT>CAT	p.R567H	MTMR3_uc003agu.3_Missense_Mutation_p.R567H|MTMR3_uc003agw.3_Missense_Mutation_p.R567H	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	567	Myotubularin phosphatase.			LYPVCHVRNLMLWSAVYLP -> CILQPFHCGQQKEFGVGY I (in Ref. 7).	phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGCCATGTGCGTAACCTGATG	0.567												
TBC1D10A	83874	broad.mit.edu	37	22	30691728	30691728	+	Silent	SNP	G	G	A	rs141103266		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:30691728G>A	uc011akt.1	-	4	546	c.522C>T	c.(520-522)CAC>CAT	p.H174H	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Silent_p.H32H|TBC1D10A_uc003ahj.3_Silent_p.H86H|TBC1D10A_uc010gvu.2_Silent_p.H181H|TBC1D10A_uc003ahk.3_Silent_p.H174H	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	174	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						CTGCTCACCCGTGGCCCCCCC	0.607												
GAL3ST1	9514	broad.mit.edu	37	22	30951416	30951416	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:30951416G>A	uc003aig.1	-	4	936	c.796C>T	c.(796-798)CTG>TTG	p.L266L	GAL3ST1_uc003aih.1_Silent_p.L266L|GAL3ST1_uc003aii.1_Silent_p.L266L|GAL3ST1_uc010gvz.1_Silent_p.L266L	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	266	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						TCCCAGCACAGCAGGTCCTTC	0.667												
INPP5J	27124	broad.mit.edu	37	22	31524009	31524009	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:31524009C>T	uc003aju.3	+	7	1952	c.1860C>T	c.(1858-1860)ATC>ATT	p.I620I	INPP5J_uc003ajv.3_Silent_p.I253I|INPP5J_uc003ajs.3_Silent_p.I253I|INPP5J_uc011alk.1_Silent_p.I553I|INPP5J_uc010gwg.2_Silent_p.I185I|INPP5J_uc003ajw.2_Silent_p.I56I|INPP5J_uc003ajt.3_Silent_p.I252I|INPP5J_uc003ajx.2_5'UTR|INPP5J_uc003ajy.2_5'UTR|INPP5J_uc003ajz.2_Missense_Mutation_p.S10L	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	620	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1						AGTTTGCCATCGACAGTGACC	0.567												
PLA2G3	50487	broad.mit.edu	37	22	31534345	31534345	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:31534345G>A	uc003aka.2	-	3	828	c.699C>T	c.(697-699)GGC>GGT	p.G233G		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	233	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						AGAAGGCCACGCCCACGATGT	0.622												
PISD	23761	broad.mit.edu	37	22	32017120	32017120	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:32017120A>G	uc003alm.3	-	6	713	c.706T>C	c.(706-708)TGT>CGT	p.C236R	PISD_uc003alk.2_Missense_Mutation_p.C202R|PISD_uc003all.2_Missense_Mutation_p.C201R|PISD_uc011alr.1_Missense_Mutation_p.C201R|PISD_uc003aln.3_Missense_Mutation_p.C236R	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	236					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	AAGGAGTCACACGACGCGGCT	0.612											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
DEPDC5	9681	broad.mit.edu	37	22	32200207	32200207	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:32200207A>G	uc003als.2	+	16	1283	c.1141A>G	c.(1141-1143)AAG>GAG	p.K381E	DEPDC5_uc011als.1_Missense_Mutation_p.K381E|DEPDC5_uc011alu.1_Missense_Mutation_p.K381E|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.K381E|DEPDC5_uc003alr.1_Missense_Mutation_p.K381E|DEPDC5_uc011alt.1_Missense_Mutation_p.K353E	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	381					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CCCATTGTTCAAGGTAATTAG	0.313												
DEPDC5	9681	broad.mit.edu	37	22	32302427	32302427	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:32302427C>T	uc003als.2	+	42	4805	c.4663C>T	c.(4663-4665)CGG>TGG	p.R1555W	DEPDC5_uc011als.1_Missense_Mutation_p.R1486W|DEPDC5_uc011alu.1_Missense_Mutation_p.R1586W|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R1577W|DEPDC5_uc003alu.2_Missense_Mutation_p.R1004W|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.R853W|DEPDC5_uc011alx.1_Missense_Mutation_p.R403W|DEPDC5_uc010gwk.2_3'UTR|DEPDC5_uc011aly.1_Missense_Mutation_p.R403W	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1555					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CCGTGACAACCGGCTGGTCAC	0.592												
HMOX1	3162	broad.mit.edu	37	22	35783055	35783055	+	Missense_Mutation	SNP	T	T	A	rs140966438		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:35783055T>A	uc003ant.1	+	3	602	c.522T>A	c.(520-522)AGT>AGA	p.S174R		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	174					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)	ACATTGCCAGTGCCACCAAGT	0.597												
APOL3	80833	broad.mit.edu	37	22	36541536	36541536	+	Missense_Mutation	SNP	G	G	A	rs141517147	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:36541536G>A	uc003aot.2	-	2	373	c.335C>T	c.(334-336)GCG>GTG	p.A112V	APOL3_uc003aoq.2_Missense_Mutation_p.A41V|APOL3_uc003aor.2_Missense_Mutation_p.A41V|APOL3_uc003aos.2_Missense_Mutation_p.A41V|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						CAATTCAGCCGCAGTCACGAA	0.557												
CSF2RB	1439	broad.mit.edu	37	22	37334294	37334294	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:37334294T>A	uc003aqa.3	+	14	2661	c.2444T>A	c.(2443-2445)GTC>GAC	p.V815D	CSF2RB_uc003aqc.3_Missense_Mutation_p.V821D	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	815	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)	GGCCTCCTTGTCCTGCAGCAA	0.652												
KCNJ4	3761	broad.mit.edu	37	22	38823826	38823826	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:38823826G>A	uc003avs.1	-	2	409	c.312C>T	c.(310-312)GGC>GGT	p.G104G	KCNJ4_uc003avt.1_Silent_p.G104G	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	104	Poly-Gly.|Val/Gly/Ala/Pro stretch.|Extracellular (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					GGGCTGCTCCGCCACCAcccg	0.562												
CACNA1I	8911	broad.mit.edu	37	22	40066157	40066157	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:40066157T>C	uc003ayc.2	+	25	4309	c.4309T>C	c.(4309-4311)TGC>CGC	p.C1437R	CACNA1I_uc003ayd.2_Missense_Mutation_p.C1402R|CACNA1I_uc003aye.2_Missense_Mutation_p.C1352R|CACNA1I_uc003ayf.2_Missense_Mutation_p.C1317R	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1437	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTTCCACAAGTGCCGGCAGCA	0.607												
CACNA1I	8911	broad.mit.edu	37	22	40066850	40066850	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:40066850G>A	uc003ayc.2	+	26	4430	c.4430G>A	c.(4429-4431)CGG>CAG	p.R1477Q	CACNA1I_uc003ayd.2_Missense_Mutation_p.R1442Q|CACNA1I_uc003aye.2_Missense_Mutation_p.R1392Q|CACNA1I_uc003ayf.2_Missense_Mutation_p.R1357Q	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1477	Cytoplasmic (Potential).|IV.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGTCACACCCGGCTGCTCATC	0.577												
FAM83F	113828	broad.mit.edu	37	22	40417465	40417465	+	Silent	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:40417465T>G	uc003ayk.1	+	4	1045	c.951T>G	c.(949-951)ACT>ACG	p.T317T		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	317										breast(1)	1						ACTCCTCCACTGTGGCTCGAA	0.642												
TNRC6B	23112	broad.mit.edu	37	22	40661673	40661673	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:40661673C>T	uc011aor.1	+	5	1650	c.1439C>T	c.(1438-1440)ACG>ATG	p.T480M	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.T480M|TNRC6B_uc003ayo.2_Missense_Mutation_p.T284M	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	480					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						AACAGGTCTACGGGTGGGTCC	0.478												
XPNPEP3	63929	broad.mit.edu	37	22	41322429	41322429	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:41322429A>G	uc003azh.2	+	10	1606	c.1514A>G	c.(1513-1515)CAG>CGG	p.Q505R	XPNPEP3_uc003azi.2_Missense_Mutation_p.Q426R|XPNPEP3_uc011aoy.1_RNA	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	505					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0						ATATGCAGCCAGGCTTCTTGA	0.507												
ZC3H7B	23264	broad.mit.edu	37	22	41716681	41716681	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:41716681G>A	uc003azw.2	+	2	233	c.17G>A	c.(16-18)CGG>CAG	p.R6Q	ZC3H7B_uc003azv.1_Missense_Mutation_p.R6Q|ZC3H7B_uc010gyl.1_RNA	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	6					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						AGGCAGAAACGGAAGGCGGAC	0.602												
SULT4A1	25830	broad.mit.edu	37	22	44234807	44234807	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:44234807G>A	uc003bee.1	-	4	564	c.448C>T	c.(448-450)CGG>TGG	p.R150W	SULT4A1_uc003bed.1_Missense_Mutation_p.R71W|SULT4A1_uc003bef.1_RNA|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	150					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity				0		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CTCATGGTCCGCAGAGAGCGG	0.537												
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45210627	45210627	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:45210627G>A	uc003bfd.2	+	10	1277	c.1005G>A	c.(1003-1005)AAG>AAA	p.K335K	PRR5-ARHGAP8_uc003bfc.2_Silent_p.K256K|PRR5-ARHGAP8_uc011aqi.1_Silent_p.K247K|PRR5-ARHGAP8_uc011aqj.1_Silent_p.K161K|ARHGAP8_uc003bfi.2_Silent_p.K125K|ARHGAP8_uc010gzv.2_Silent_p.K125K|ARHGAP8_uc003bfj.2_Silent_p.K156K|ARHGAP8_uc003bfk.2_Silent_p.K125K|ARHGAP8_uc003bfl.2_RNA	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						ACATCTTGAAGCCCCTCATCA	0.572												
PHF21B	112885	broad.mit.edu	37	22	45309814	45309814	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:45309814G>A	uc003bfn.2	-	5	870	c.719C>T	c.(718-720)ACG>ATG	p.T240M	PHF21B_uc003bfm.2_Missense_Mutation_p.T36M|PHF21B_uc011aqk.1_Missense_Mutation_p.T186M|PHF21B_uc011aql.1_Missense_Mutation_p.T198M|PHF21B_uc011aqm.1_Missense_Mutation_p.T186M	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	240							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTCGGGCTGCGTCTGCACTTG	0.438												
RIBC2	26150	broad.mit.edu	37	22	45818285	45818285	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:45818285C>T	uc011aqs.1	+	5	866	c.657C>T	c.(655-657)AGC>AGT	p.S219S		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	151	Potential.										0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCAACAAGAGCCAGGTATAGG	0.572												
CELSR1	9620	broad.mit.edu	37	22	46765660	46765660	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:46765660C>T	uc003bhw.1	-	26	7801	c.7801G>A	c.(7801-7803)GAC>AAC	p.D2601N	CELSR1_uc011arc.1_Missense_Mutation_p.R1066Q	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2601	Extracellular (Potential).				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)		CAGCAGAAGTCGGGGTTCCCG	0.647												
PANX2	56666	broad.mit.edu	37	22	50615711	50615711	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:50615711C>T	uc003bjn.3	+	2	570	c.570C>T	c.(568-570)CGC>CGT	p.R190R	PANX2_uc003bjp.3_Silent_p.R56R|PANX2_uc003bjo.3_Silent_p.R190R	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	190	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TCACGGAGCGCGAGAAGCGCG	0.647												
ITPR1	3708	broad.mit.edu	37	3	4810193	4810193	+	Splice_Site	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:4810193A>T	uc003bqa.2	+	43	5930	c.5582_splice	c.e43-2	p.A1861_splice	ITPR1_uc010hca.1_Splice_Site_p.A1846_splice|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Splice_Site_p.A831_splice	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1						activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTTGCTTTCTAGCTAAAGAGC	0.522												
BRPF1	7862	broad.mit.edu	37	3	9780731	9780731	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:9780731C>T	uc003bse.2	+	3	1047	c.648C>T	c.(646-648)GAC>GAT	p.D216D	BRPF1_uc003bsf.2_Silent_p.D216D|BRPF1_uc003bsg.2_Silent_p.D216D|BRPF1_uc011ati.1_Silent_p.D216D	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	216	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					TAGAGTATGACATGGACGAGG	0.502												
ATP2B2	491	broad.mit.edu	37	3	10387766	10387766	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:10387766G>A	uc003bvt.2	-	17	2899	c.2460C>T	c.(2458-2460)GAC>GAT	p.D820D	ATP2B2_uc003bvv.2_Silent_p.D775D|ATP2B2_uc003bvw.2_Silent_p.D775D|ATP2B2_uc010hdo.2_Silent_p.D525D	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	820	Cytoplasmic (Potential).	Magnesium (By similarity).			ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CGTTGGTCCCGTCCCCCGTCA	0.677												
HRH1	3269	broad.mit.edu	37	3	11301400	11301400	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:11301400T>G	uc010hdr.2	+	2	1019	c.677T>G	c.(676-678)CTC>CGC	p.L226R	HRH1_uc010hds.2_Missense_Mutation_p.L226R|HRH1_uc010hdt.2_Missense_Mutation_p.L226R|HRH1_uc003bwb.3_Missense_Mutation_p.L226R	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	226	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CACCGGGAGCTCATCAATAGG	0.537												
ATG7	10533	broad.mit.edu	37	3	11382179	11382179	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:11382179T>C	uc003bwc.2	+	10	1067	c.950T>C	c.(949-951)GTG>GCG	p.V317A	ATG7_uc003bwd.2_Missense_Mutation_p.V317A|ATG7_uc011aum.1_Missense_Mutation_p.V278A	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	317					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						CCAAGGATGGTGAACCTCAGT	0.433												
RAF1	5894	broad.mit.edu	37	3	12660191	12660191	+	Silent	SNP	C	C	T	rs140806518	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:12660191C>T	uc003bxf.3	-	2	445	c.30G>A	c.(28-30)ACG>ACA	p.T10T	RAF1_uc011auu.1_5'UTR	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	10					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	CATTGCTGATCGTCTTCCAAG	0.428			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome			
IQSEC1	9922	broad.mit.edu	37	3	12977583	12977583	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:12977583C>T	uc003bxt.2	-	3	984	c.975G>A	c.(973-975)CCG>CCA	p.P325P	IQSEC1_uc003bxu.3_Silent_p.P203P|IQSEC1_uc011auw.1_Silent_p.P311P	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	325					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						CGGTGCTGGACGGCCGGTCCC	0.662												
GRIP2	80852	broad.mit.edu	37	3	14564529	14564529	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:14564529G>A	uc011avi.1	-	7	835	c.835C>T	c.(835-837)CGG>TGG	p.R279W	GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	182	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						CCACCGGGCCGCACGTAGGTC	0.512												
GRIP2	80852	broad.mit.edu	37	3	14564548	14564548	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:14564548C>T	uc011avi.1	-	7	816	c.816G>A	c.(814-816)CCG>CCA	p.P272P	GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	175	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						TCAGGACAAGCGGGCGGGACT	0.572												
C3orf20	84077	broad.mit.edu	37	3	14769959	14769959	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:14769959T>C	uc003byy.2	+	12	2108	c.1704T>C	c.(1702-1704)ATT>ATC	p.I568I	C3orf20_uc003byz.2_Silent_p.I446I|C3orf20_uc003bza.2_Silent_p.I446I|C3orf20_uc003bzb.1_Silent_p.I69I	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	568						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						TGTTTACCATTGAATATCCCA	0.483												
FGD5	152273	broad.mit.edu	37	3	14863039	14863039	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:14863039G>A	uc003bzc.2	+	1	2571	c.2461G>A	c.(2461-2463)GTG>ATG	p.V821M	FGD5_uc011avk.1_Missense_Mutation_p.V821M	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	821					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						TGATGGCTACGTGGACATGAG	0.512												
RFTN1	23180	broad.mit.edu	37	3	16358486	16358486	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:16358486A>G	uc003cay.2	-	10	1868	c.1586T>C	c.(1585-1587)GTG>GCG	p.V529A	RFTN1_uc010hes.2_Missense_Mutation_p.V493A|OXNAD1_uc003cax.2_Intron|OXNAD1_uc011awb.1_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	529						plasma membrane				ovary(3)|central_nervous_system(1)	4						CTCCACACCCACCCCACACAG	0.632												
RFTN1	23180	broad.mit.edu	37	3	16419565	16419565	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:16419565T>C	uc003cay.2	-	5	768	c.486A>G	c.(484-486)ATA>ATG	p.I162M	RFTN1_uc010hes.2_Missense_Mutation_p.I126M	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	162						plasma membrane				ovary(3)|central_nervous_system(1)	4						GGTACTGAGGTATAACACCAA	0.517												
TBC1D5	9779	broad.mit.edu	37	3	17255739	17255739	+	Missense_Mutation	SNP	C	C	T	rs138674365		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:17255739C>T	uc003cbf.2	-	18	3377	c.1712G>A	c.(1711-1713)CGT>CAT	p.R571H	TBC1D5_uc010heu.2_Missense_Mutation_p.R158H|TBC1D5_uc010hev.2_Missense_Mutation_p.R593H|TBC1D5_uc003cbe.2_Missense_Mutation_p.R571H|TBC1D5_uc010hew.1_Missense_Mutation_p.R545H	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	571						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TGAGCGAGAACGTGAGATGTT	0.408												
RARB	5915	broad.mit.edu	37	3	25622169	25622169	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:25622169G>A	uc011awl.1	+	5	829	c.763G>A	c.(763-765)GCA>ACA	p.A255T	RARB_uc003cdi.1_Missense_Mutation_p.A136T|RARB_uc003cdh.2_Missense_Mutation_p.A248T	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	255	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|large_intestine(1)|pancreas(1)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CTTGACCATCGCAGACCAAAT	0.502												
STT3B	201595	broad.mit.edu	37	3	31621466	31621466	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:31621466G>A	uc011axe.1	+	3	589	c.589G>A	c.(589-591)GCA>ACA	p.A197T	STT3B_uc010hft.1_Missense_Mutation_p.A197T|STT3B_uc003cer.1_Missense_Mutation_p.A197T	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	source of immunodominant MHC-associated	197	Helical; (Potential).				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0						GAACCAAGGAGCAGGACTTTT	0.408												
TRIM71	131405	broad.mit.edu	37	3	32932581	32932581	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:32932581C>T	uc003cff.2	+	4	1948	c.1885C>T	c.(1885-1887)CGC>TGC	p.R629C		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	629	NHL 1.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CAGCAACAACCGCATCCAGGT	0.642												
GOLGA4	2803	broad.mit.edu	37	3	37367422	37367422	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:37367422T>A	uc003cgv.2	+	14	4349	c.4045T>A	c.(4045-4047)TCT>ACT	p.S1349T	GOLGA4_uc010hgr.1_Missense_Mutation_p.S910T|GOLGA4_uc003cgw.2_Missense_Mutation_p.S1371T|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.S1230T	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1349	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						GAAAGAGTTATCTGAAAACAT	0.353												
ITGA9	3680	broad.mit.edu	37	3	37523078	37523078	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:37523078C>T	uc003chd.2	+	4	577	c.524C>T	c.(523-525)ACG>ATG	p.T175M	ITGA9_uc003chc.2_Missense_Mutation_p.T175M	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	175	Extracellular (Potential).				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)		AAAGGCAGGACGCTGATCCCT	0.547												
SCN10A	6336	broad.mit.edu	37	3	38763811	38763811	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:38763811C>T	uc003ciq.2	-	19	3445	c.3445G>A	c.(3445-3447)GTG>ATG	p.V1149M		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1149	III.|Helical; Name=S1 of repeat III; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGTGCTCCACGATACGGTAG	0.562												
SCN11A	11280	broad.mit.edu	37	3	38892065	38892065	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:38892065C>A	uc011ays.1	-	25	4433	c.4234G>T	c.(4234-4236)GAA>TAA	p.E1412*	SCN11A_uc003cis.1_Nonsense_Mutation_p.E77*	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1412	IV.|Helical; Name=S2 of repeat IV; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAGACATTCTAACGTAAAG	0.393												
CCDC13	152206	broad.mit.edu	37	3	42794103	42794103	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:42794103C>T	uc003cly.3	-	4	561	c.477G>A	c.(475-477)AAG>AAA	p.K159K	CCDC13_uc003clz.2_Silent_p.K159K|CCDC13_uc011azq.1_Silent_p.K159K	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	159	Potential.									ovary(1)	1						TGGTCAGCTGCTTCACCCTGG	0.572												
KIF15	56992	broad.mit.edu	37	3	44828026	44828026	+	Missense_Mutation	SNP	C	C	T	rs145837852		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:44828026C>T	uc003cnx.3	+	7	748	c.599C>T	c.(598-600)GCG>GTG	p.A200V	KIF15_uc010hiq.2_Missense_Mutation_p.A103V	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	200	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GTTGTTGGTGCGGTGGAGCAG	0.483												
DHX30	22907	broad.mit.edu	37	3	47890175	47890175	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:47890175C>T	uc003cru.2	+	17	3063	c.2637C>T	c.(2635-2637)ACC>ACT	p.T879T	DHX30_uc003crt.2_Silent_p.T840T|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	879						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ACATCTCCACCGACCCCCGGT	0.642												
CCDC51	79714	broad.mit.edu	37	3	48476334	48476334	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:48476334G>A	uc003csz.2	-	2	326	c.205C>T	c.(205-207)CAC>TAC	p.H69Y	CCDC51_uc003cta.2_5'UTR|CCDC51_uc003ctb.2_5'UTR|CCDC51_uc003ctc.2_Missense_Mutation_p.H69Y|CCDC51_uc003ctd.2_5'UTR	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	69						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGAATGCTGTGCCCCAGGGCT	0.612												
ATRIP	84126	broad.mit.edu	37	3	48506346	48506346	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:48506346G>A	uc003ctf.1	+	12	2204	c.2172G>A	c.(2170-2172)GTG>GTA	p.V724V	ATRIP_uc011bbj.1_Silent_p.V597V|ATRIP_uc003ctg.1_Silent_p.V697V|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'UTR|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	ATR interacting protein isoform 1	724					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGACACGGTGCTGCTGCTGC	0.632								Other_conserved_DNA_damage_response_genes				
COL7A1	1294	broad.mit.edu	37	3	48623373	48623373	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:48623373C>A	uc003ctz.2	-	28	3760	c.3759G>T	c.(3757-3759)AAG>AAT	p.K1253N		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1253	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGACTCTTACCTTTGGACAAT	0.562												
IP6K2	51447	broad.mit.edu	37	3	48732686	48732686	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:48732686G>A	uc003cup.2	-	2	283	c.39C>T	c.(37-39)CGC>CGT	p.R13R	IP6K2_uc003cuq.2_Silent_p.R13R|IP6K2_uc011bbq.1_Silent_p.R13R|IP6K2_uc011bbr.1_Silent_p.R13R|IP6K2_uc003cur.2_Silent_p.R13R|IP6K2_uc003cus.2_Silent_p.R13R|IP6K2_uc003cut.2_RNA|IP6K2_uc011bbs.1_RNA|IP6K2_uc011bbt.1_Silent_p.R68R|IP6K2_uc003cuv.1_Missense_Mutation_p.R139C|IP6K2_uc011bbu.1_Silent_p.R67R|IP6K2_uc011bbv.1_Silent_p.R71R|IP6K2_uc003cuw.1_Missense_Mutation_p.R138C	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN	inositol hexaphosphate kinase 2 isoform a	13					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						CGCCTTTGGCGCGGGGCTCCA	0.657												
P4HTM	54681	broad.mit.edu	37	3	49042326	49042326	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:49042326T>G	uc003cvg.2	+	6	1269	c.920T>G	c.(919-921)ATC>AGC	p.I307S	P4HTM_uc003cvh.2_Missense_Mutation_p.I307S|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	307	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)	TCGCCTGAGATCGTGGAGCTC	0.642												
DALRD3	55152	broad.mit.edu	37	3	49054740	49054740	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:49054740A>G	uc003cvk.1	-	5	868	c.848T>C	c.(847-849)GTT>GCT	p.V283A	DALRD3_uc003cvl.1_Missense_Mutation_p.V283A|DALRD3_uc003cvm.1_Missense_Mutation_p.V116A|DALRD3_uc010hko.1_Missense_Mutation_p.V116A|DALRD3_uc011bca.1_Missense_Mutation_p.V283A	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	283					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCACAGCTAACAACATGTAC	0.498												
USP19	10869	broad.mit.edu	37	3	49147938	49147938	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:49147938A>G	uc003cwd.1	-	24	3650	c.3489T>C	c.(3487-3489)GGT>GGC	p.G1163G	USP19_uc003cwa.2_Silent_p.G971G|USP19_uc003cvz.3_Silent_p.G1266G|USP19_uc011bcg.1_Silent_p.G1254G|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.G921G|USP19_uc011bch.1_Silent_p.G1264G	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	1163	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTAGTGGCCACCAATCATGC	0.562												
USP19	10869	broad.mit.edu	37	3	49149374	49149374	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:49149374C>T	uc003cwd.1	-	19	2725	c.2564G>A	c.(2563-2565)CGC>CAC	p.R855H	USP19_uc003cwa.2_Missense_Mutation_p.R663H|USP19_uc003cvz.3_Missense_Mutation_p.R958H|USP19_uc011bcg.1_Missense_Mutation_p.R946H|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.R613H|USP19_uc011bch.1_Missense_Mutation_p.R956H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	855	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAGCGAGGCGGGCATAAGT	0.597												
ACY1	95	broad.mit.edu	37	3	52021432	52021432	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:52021432G>T	uc003dcp.2	+	11	876	c.815G>T	c.(814-816)AGC>ATC	p.S272I	ACY1_uc011bea.1_Missense_Mutation_p.S362I|ACY1_uc011beb.1_Missense_Mutation_p.S272I|ACY1_uc003dcq.2_Missense_Mutation_p.S272I	NM_000666	NP_000657	Q03154	ACY1_HUMAN	aminoacylase 1	272					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	ATGAGCGCCAGCTTTGACTTC	0.587												
STAB1	23166	broad.mit.edu	37	3	52551981	52551981	+	Missense_Mutation	SNP	G	G	A	rs150583969	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:52551981G>A	uc003dej.2	+	45	4797	c.4723G>A	c.(4723-4725)GTG>ATG	p.V1575M	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1575	Extracellular (Potential).|EGF-like 13.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCCCACACCGTGGGGGACGG	0.617												
ITIH1	3697	broad.mit.edu	37	3	52824813	52824813	+	Silent	SNP	C	C	T	rs146607393	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:52824813C>T	uc003dfs.2	+	20	2394	c.2370C>T	c.(2368-2370)GAC>GAT	p.D790D	ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.D391D|ITIH1_uc010hmo.1_Silent_p.D344D|ITIH1_uc003dfu.2_Silent_p.D156D	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	790	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTCTGTGGACGACGGTGGCA	0.597												
CACNA1D	776	broad.mit.edu	37	3	53694205	53694205	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:53694205C>T	uc003dgv.3	+	5	832	c.669C>T	c.(667-669)GGC>GGT	p.G223G	CACNA1D_uc003dgu.3_Silent_p.G223G|CACNA1D_uc003dgy.3_Silent_p.G223G	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	223	Extracellular (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAACAGAAGGCGGGAACCACT	0.458												
LRTM1	57408	broad.mit.edu	37	3	54952711	54952711	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:54952711G>A	uc003dhl.2	-	3	947	c.813C>T	c.(811-813)TGC>TGT	p.C271C	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	271	Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GTTTGAGCTCGCACTCCAAGA	0.602												
ACOX2	8309	broad.mit.edu	37	3	58519212	58519212	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:58519212G>A	uc003dkl.2	-	5	718	c.543C>T	c.(541-543)CAC>CAT	p.H181H		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	181					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GCGTGGGGCTGTGTATCACAA	0.498											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PTPRG	5793	broad.mit.edu	37	3	62258734	62258734	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:62258734G>A	uc003dlb.2	+	22	4015	c.3296G>A	c.(3295-3297)CGT>CAT	p.R1099H	PTPRG_uc003dlc.2_Missense_Mutation_p.R1070H|PTPRG_uc011bfi.1_Missense_Mutation_p.R345H|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	1099	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)		AGGACACAGCGTAACTACCTC	0.433												
PSMD6	9861	broad.mit.edu	37	3	64004505	64004505	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:64004505G>T	uc003dma.1	-	4	731	c.706C>A	c.(706-708)CTC>ATC	p.L236I	PSMD6_uc003dlz.1_Missense_Mutation_p.L187I|PSMD6_uc003dmb.1_Missense_Mutation_p.L289I|PSMD6_uc003dmc.1_Missense_Mutation_p.L197I|PSMD6_uc003dmd.1_Missense_Mutation_p.L198I	NM_014814	NP_055629	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit,	236	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|skin(1)	2		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		TTTTCCCTGAGATCTGGTCTT	0.279												
MITF	4286	broad.mit.edu	37	3	69928397	69928397	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:69928397C>T	uc003dnz.2	+	2	333	c.217C>T	c.(217-219)CGC>TGC	p.R73C	MITF_uc011bgb.1_Missense_Mutation_p.R21C|MITF_uc003doa.2_Missense_Mutation_p.R72C|MITF_uc003dob.2_Missense_Mutation_p.R57C|MITF_uc003dod.2_Missense_Mutation_p.R48C|MITF_uc003doc.1_RNA	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	73					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GGAGCAGGAGCGCAGGGAGCA	0.597			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome					
FOXP1	27086	broad.mit.edu	37	3	71015109	71015109	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:71015109G>A	uc003dol.2	-	16	2144	c.1821C>T	c.(1819-1821)AAC>AAT	p.N607N	FOXP1_uc003dom.2_Silent_p.N531N|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.N606N|FOXP1_uc003dop.2_Silent_p.N607N|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Silent_p.N507N|FOXP1_uc003doj.2_Silent_p.N507N|FOXP1_uc003dok.2_Silent_p.N420N	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	607					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CCATTGCCCCGTTCAGCTCTT	0.512			T	PAX5	ALL							
PDZRN3	23024	broad.mit.edu	37	3	73432878	73432878	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:73432878C>T	uc003dpl.1	-	10	2935	c.2839G>A	c.(2839-2841)GCC>ACC	p.A947T	PDZRN3_uc011bgh.1_Missense_Mutation_p.A604T|PDZRN3_uc010hoe.1_Missense_Mutation_p.A645T|PDZRN3_uc011bgf.1_Missense_Mutation_p.A664T|PDZRN3_uc011bgg.1_Missense_Mutation_p.A667T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	947							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ATCTTCAGGGCGCGCTCCCGC	0.672												
CNTN3	5067	broad.mit.edu	37	3	74474011	74474011	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:74474011G>A	uc003dpm.1	-	4	519	c.439C>T	c.(439-441)CCA>TCA	p.P147S		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	147	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAGTGTGGTGGGGGGCCGCAG	0.443												
EPHA3	2042	broad.mit.edu	37	3	89499405	89499405	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:89499405G>A	uc003dqy.2	+	15	2800	c.2575G>A	c.(2575-2577)GAC>AAC	p.D859N	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	859	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCTGATGCTGGACTGCTGGCA	0.498										TSP Lung(6;0.00050)		
EPHA6	285220	broad.mit.edu	37	3	96706210	96706210	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:96706210C>T	uc010how.1	+	3	530	c.487C>T	c.(487-489)CCC>TCC	p.P163S	EPHA6_uc003drp.1_Missense_Mutation_p.P163S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	68	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						ACATAATAGGCCCATTCACAC	0.373												
EPHA6	285220	broad.mit.edu	37	3	96706313	96706313	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:96706313A>T	uc010how.1	+	3	633	c.590A>T	c.(589-591)GAA>GTA	p.E197V	EPHA6_uc003drp.1_Missense_Mutation_p.E197V	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	102	Ephrin-binding.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						ATTTATGTGGAAATGAAATTC	0.398												
OR5H2	79310	broad.mit.edu	37	3	98002130	98002130	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:98002130A>G	uc003dsj.1	+	1	399	c.399A>G	c.(397-399)AAA>AAG	p.K133K		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						CCATATGCAAACCTTTACTAT	0.383												
ABI3BP	25890	broad.mit.edu	37	3	100469446	100469446	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:100469446T>C	uc003dun.2	-	35	3206	c.3121A>G	c.(3121-3123)AGA>GGA	p.R1041G	ABI3BP_uc003duj.2_Missense_Mutation_p.R621G|ABI3BP_uc003duk.2_Missense_Mutation_p.R750G|ABI3BP_uc003dul.2_Missense_Mutation_p.R871G|ABI3BP_uc011bhd.1_Missense_Mutation_p.R995G|ABI3BP_uc003dum.2_Missense_Mutation_p.R452G	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	1041						extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						CGAACTGCTCTGAAATAACCT	0.393												
RG9MTD1	54931	broad.mit.edu	37	3	101284698	101284698	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:101284698G>A	uc003duz.2	+	2	1221	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H		NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	RNA (guanine-9-) methyltransferase domain	358					tRNA processing	mitochondrion	methyltransferase activity|protein binding			ovary(1)	1						CAAATGATACGTATTTTGTTA	0.368												
FAM55C	91775	broad.mit.edu	37	3	101535714	101535714	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:101535714C>T	uc003dvn.2	+	7	1635	c.998C>T	c.(997-999)CCC>CTC	p.P333L	FAM55C_uc010hpn.2_Missense_Mutation_p.P333L	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	333						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						CAGTGGAGGCCCAGAAAGTTT	0.373												
MORC1	27136	broad.mit.edu	37	3	108776228	108776228	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:108776228C>T	uc003dxl.2	-	13	1224	c.1137G>A	c.(1135-1137)ATG>ATA	p.M379I	MORC1_uc011bhn.1_Missense_Mutation_p.M379I	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	379					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						CTTTTTCATGCATTTTGATCA	0.388												
DPPA4	55211	broad.mit.edu	37	3	109049561	109049561	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:109049561T>C	uc003dxq.3	-	5	544	c.489A>G	c.(487-489)ACA>ACG	p.T163T	DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Silent_p.T163T	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	163						nucleus	protein binding			upper_aerodigestive_tract(1)	1						CAGGAGGATGTGTCTCAGAAC	0.478												
DPPA4	55211	broad.mit.edu	37	3	109050783	109050783	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:109050783T>C	uc003dxq.3	-	3	329	c.274A>G	c.(274-276)AAT>GAT	p.N92D	DPPA4_uc011bho.1_Missense_Mutation_p.N92D|DPPA4_uc011bhp.1_Missense_Mutation_p.N92D	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	92						nucleus	protein binding			upper_aerodigestive_tract(1)	1						TGAATCAGATTAACAGGTGGC	0.542												
PHLDB2	90102	broad.mit.edu	37	3	111693410	111693410	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:111693410G>C	uc010hqa.2	+	18	4173	c.3762G>C	c.(3760-3762)TAG>TAC	p.*1254Y	PHLDB2_uc003dyc.2_Nonstop_Mutation_p.*1238Y|PHLDB2_uc003dyd.2_Nonstop_Mutation_p.*1211Y|PHLDB2_uc003dyg.2_Nonstop_Mutation_p.*1254Y|PHLDB2_uc003dyh.2_Nonstop_Mutation_p.*1211Y|PHLDB2_uc003dyi.2_Nonstop_Mutation_p.*745Y|PHLDB2_uc003dyj.2_Nonstop_Mutation_p.*309Y	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	1254						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						TCTTGTTGTAGTGAACTGAGG	0.463												
ATP6V1A	523	broad.mit.edu	37	3	113503111	113503111	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:113503111A>C	uc003eao.2	+	4	318	c.252A>C	c.(250-252)AAA>AAC	p.K84N	ATP6V1A_uc011bik.1_Missense_Mutation_p.K51N	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	84					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3						GCACTGGTAAACCCCTCTCTG	0.433												
ZBTB20	26137	broad.mit.edu	37	3	114057858	114057858	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:114057858G>A	uc003ebi.2	-	5	2400	c.2220C>T	c.(2218-2220)GAC>GAT	p.D740D	ZBTB20_uc003ebj.2_Silent_p.D667D|ZBTB20_uc010hqp.2_Silent_p.D667D|ZBTB20_uc003ebk.2_Silent_p.D667D|ZBTB20_uc003ebl.2_Silent_p.D667D|ZBTB20_uc003ebm.2_Silent_p.D667D|ZBTB20_uc003ebn.2_Silent_p.D667D	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTACTTATCCGTCAGACACAT	0.413												
ZBTB20	26137	broad.mit.edu	37	3	114070178	114070178	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:114070178C>T	uc003ebi.2	-	4	927	c.747G>A	c.(745-747)GCG>GCA	p.A249A	ZBTB20_uc003ebj.2_Silent_p.A176A|ZBTB20_uc010hqp.2_Silent_p.A176A|ZBTB20_uc003ebk.2_Silent_p.A176A|ZBTB20_uc003ebl.2_Silent_p.A176A|ZBTB20_uc003ebm.2_Silent_p.A176A|ZBTB20_uc003ebn.2_Silent_p.A176A|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCATGGAGCACGCGTAGAGTG	0.657												
KTELC1	56983	broad.mit.edu	37	3	119190219	119190219	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:119190219A>G	uc003ecm.2	+	3	324	c.240A>G	c.(238-240)GTA>GTG	p.V80V	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_5'UTR	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	80						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		TGGCAGAGGTAGTCAGACGGA	0.488												
KTELC1	56983	broad.mit.edu	37	3	119198976	119198976	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:119198976A>G	uc003ecm.2	+	5	619	c.535A>G	c.(535-537)ACA>GCA	p.T179A	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.T20A	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	179						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		AATTTATCCTACAGGTCTTGG	0.428												
POLQ	10721	broad.mit.edu	37	3	121158877	121158877	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:121158877G>A	uc003eee.3	-	27	7480	c.7351C>T	c.(7351-7353)CCA>TCA	p.P2451S	POLQ_uc003eed.2_Missense_Mutation_p.P1623S	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2451					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)		TTGATTCCTGGCAAATATCTA	0.338								DNA_polymerases_(catalytic_subunits)				
CASR	846	broad.mit.edu	37	3	121980496	121980496	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:121980496G>A	uc003eev.3	+	4	986	c.614G>A	c.(613-615)CGC>CAC	p.R205H	CASR_uc003eew.3_Missense_Mutation_p.R205H	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	205	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAGTATTTCCGCTGGAACTGG	0.522												
PDIA5	10954	broad.mit.edu	37	3	122864423	122864423	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:122864423T>G	uc003egc.1	+	12	1021	c.965T>G	c.(964-966)CTC>CGC	p.L322R	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	322	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		GCAGAAGCCCTCCATGGAGAA	0.507												
KALRN	8997	broad.mit.edu	37	3	123946846	123946846	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:123946846G>A	uc003ehg.2	+	2	204	c.77G>A	c.(76-78)CGG>CAG	p.R26Q	KALRN_uc010hrv.1_Missense_Mutation_p.R26Q|KALRN_uc003ehf.1_Missense_Mutation_p.R26Q|KALRN_uc011bjy.1_Missense_Mutation_p.R26Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	26					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGGTCTTTTCGGAATGATGGT	0.488												
HEG1	57493	broad.mit.edu	37	3	124709815	124709815	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:124709815T>C	uc003ehs.3	-	13	3736	c.3668A>G	c.(3667-3669)TAT>TGT	p.Y1223C	HEG1_uc003ehr.3_Missense_Mutation_p.Y77C|HEG1_uc011bke.1_Missense_Mutation_p.Y1323C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1223	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						TTCAAGCCTATATCCATCTTC	0.363												
PLXNA1	5361	broad.mit.edu	37	3	126746844	126746844	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:126746844G>A	uc003ejg.2	+	23	4359	c.4355G>A	c.(4354-4356)GGC>GAC	p.G1452D	PLXNA1_uc003ejh.2_Missense_Mutation_p.G120D	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1475	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		ATGGAGAAGGGCCCCATTGAC	0.637												
MCM2	4171	broad.mit.edu	37	3	127327857	127327857	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:127327857C>T	uc003ejp.2	+	8	1476	c.1419C>T	c.(1417-1419)ATC>ATT	p.I473I	MCM2_uc011bkm.1_Silent_p.I343I|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.I357I	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	473	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						ATCAGCAGATCGGAGAGAAGG	0.562												
ASTE1	28990	broad.mit.edu	37	3	130743595	130743595	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:130743595T>C	uc003env.1	-	3	998	c.556A>G	c.(556-558)ATT>GTT	p.I186V	NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.I186V|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	186					DNA repair		nuclease activity				0						GTGCCCTTAATAGTGTTCATA	0.393												
A4GNT	51146	broad.mit.edu	37	3	137843629	137843629	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:137843629T>C	uc003ers.2	-	3	702	c.500A>G	c.(499-501)GAC>GGC	p.D167G		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	167	Lumenal (Potential).|DXD motif (By similarity).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1						GACATCGGTGTCCATGTAGAT	0.547												
PRR23B	389151	broad.mit.edu	37	3	138739139	138739139	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:138739139A>G	uc003esy.1	-	1	630	c.365T>C	c.(364-366)CTG>CCG	p.L122P		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	122										breast(1)	1						GTCCACTTCCAGCCCGGCAGA	0.632												
CHST2	9435	broad.mit.edu	37	3	142840602	142840602	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:142840602C>T	uc003evm.2	+	2	1833	c.944C>T	c.(943-945)GCG>GTG	p.A315V		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	315	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						GCGGTCTTGGCGCCACTGCTG	0.667												
SIAH2	6478	broad.mit.edu	37	3	150460061	150460061	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:150460061C>T	uc003eyi.2	-	2	1469	c.842G>A	c.(841-843)CGT>CAT	p.R281H		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	281	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATGAATCGAACGGGGCGTGGC	0.547												
GPR87	53836	broad.mit.edu	37	3	151012131	151012131	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:151012131G>A	uc003eyt.2	-	3	1264	c.903C>T	c.(901-903)TTC>TTT	p.F301F	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	301	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACGCAGACAAGAAAAGTGTAA	0.333												
LXN	56925	broad.mit.edu	37	3	158387236	158387236	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:158387236G>A	uc003fch.2	-	3	571	c.356C>T	c.(355-357)GCA>GTA	p.A119V	GFM1_uc003fcd.2_Intron|GFM1_uc003fce.2_Intron|GFM1_uc003fcf.2_Intron|GFM1_uc003fcg.2_Intron|LXN_uc011bov.1_Missense_Mutation_p.A119V	NM_020169	NP_064554	Q9BS40	LXN_HUMAN	latexin	119						cytoplasm	metalloendopeptidase inhibitor activity|protein binding				0			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AATATTTTGTGCTTCTAGCGG	0.323												
ZBBX	79740	broad.mit.edu	37	3	167000063	167000063	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:167000063A>G	uc003fep.2	-	19	2423	c.2100T>C	c.(2098-2100)AAT>AAC	p.N700N	ZBBX_uc011bpc.1_Silent_p.N739N|ZBBX_uc003feq.2_Silent_p.N671N	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	700	Potential.					intracellular	zinc ion binding			ovary(2)	2						CTTTTTCCAAATTGTCTAAAG	0.338												
LRRC31	79782	broad.mit.edu	37	3	169578504	169578504	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:169578504G>T	uc003fgc.1	-	3	409	c.332C>A	c.(331-333)CCT>CAT	p.P111H	LRRC31_uc010hwp.1_Intron	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	111										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TGGGAGAAAAGGCAGCAAGGC	0.398												
GHSR	2693	broad.mit.edu	37	3	172163150	172163150	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:172163150C>T	uc003fib.1	-	2	902	c.902G>A	c.(901-903)AGC>AAC	p.S301N		NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	301	Extracellular (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCAGTACTGGCTGATCTGAGC	0.512												
MCF2L2	23101	broad.mit.edu	37	3	182947567	182947567	+	Silent	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:182947567T>A	uc003fli.1	-	17	2022	c.1932A>T	c.(1930-1932)GGA>GGT	p.G644G	MCF2L2_uc003flj.1_Silent_p.G644G|MCF2L2_uc011bqr.1_RNA	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	644	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)			GAGTGATATATCCCTGCAGAG	0.368												
B3GNT5	84002	broad.mit.edu	37	3	182988259	182988259	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:182988259C>T	uc003flk.2	+	2	1203	c.673C>T	c.(673-675)CGT>TGT	p.R225C	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.R225C|B3GNT5_uc003flm.2_Missense_Mutation_p.R225C	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	225	Lumenal (Potential).				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			ovary(1)	1	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCGTGTTCATCGTGGTGCCCC	0.433												
KLHL6	89857	broad.mit.edu	37	3	183273199	183273199	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:183273199C>A	uc003flr.2	-	1	301	c.243G>T	c.(241-243)CAG>CAT	p.Q81H	KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.Q79H	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	81	BTB.									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)			AGGAGAATTCCTGAATGTCCA	0.507												
CLDN16	10686	broad.mit.edu	37	3	190127782	190127782	+	Missense_Mutation	SNP	G	G	A	rs139856985	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:190127782G>A	uc003fsi.2	+	5	943	c.875G>A	c.(874-876)CGC>CAC	p.R292H	CLDN16_uc010hze.2_3'UTR	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	292	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TCAGCCCCTCGCACAGAGACG	0.443												
TMEM207	131920	broad.mit.edu	37	3	190158096	190158096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:190158096G>A	uc003fsj.2	-	4	308	c.241C>T	c.(241-243)CGA>TGA	p.R81*		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	transmembrane protein 207 precursor	81						integral to membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		GAATCAATTCGGGGTCTCCTC	0.512												
ATP13A5	344905	broad.mit.edu	37	3	193002723	193002723	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:193002723C>T	uc011bsq.1	-	27	3206	c.3206G>A	c.(3205-3207)CGA>CAA	p.R1069Q		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1069					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GATGGGTTTTCGAAATGGCTT	0.378												
TMEM44	93109	broad.mit.edu	37	3	194344358	194344358	+	Missense_Mutation	SNP	G	G	A	rs146561237		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:194344358G>A	uc010hzn.2	-	4	594	c.425C>T	c.(424-426)CCG>CTG	p.P142L	TMEM44_uc003fue.2_Missense_Mutation_p.P142L|TMEM44_uc003fud.2_Missense_Mutation_p.P142L|TMEM44_uc003fuf.2_Missense_Mutation_p.P142L|TMEM44_uc011bsv.1_Missense_Mutation_p.P142L|TMEM44_uc003fuh.1_RNA	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	transmembrane protein 44 isoform b	142	Helical; (Potential).					integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CAGGCTCAGCGGCAGGGCCAG	0.662												
BDH1	622	broad.mit.edu	37	3	197273282	197273282	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:197273282T>C	uc003fxr.2	-	3	435	c.33A>G	c.(31-33)TCA>TCG	p.S11S	BDH1_uc003fxs.2_Silent_p.S11S|BDH1_uc003fxt.2_Intron|BDH1_uc003fxu.2_Silent_p.S11S	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	11					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)	CTGGGAGCCGTGACAGGGGTC	0.557												
MAEA	10296	broad.mit.edu	37	4	1305821	1305821	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:1305821C>T	uc003gda.2	+	2	154	c.124C>T	c.(124-126)CGG>TGG	p.R42W	MAEA_uc010ibs.1_Missense_Mutation_p.R42W|MAEA_uc003gdb.2_Missense_Mutation_p.R42W|MAEA_uc011bvb.1_Missense_Mutation_p.R42W|MAEA_uc003gdc.2_Missense_Mutation_p.R42W|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.R41W|MAEA_uc011bvd.1_5'UTR	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	42	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GAACATTGACCGGGAGACCAG	0.637												
WHSC1	7468	broad.mit.edu	37	4	1980497	1980497	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:1980497G>A	uc003gdz.3	+	22	4135	c.3959G>A	c.(3958-3960)CGG>CAG	p.R1320Q	WHSC1_uc003geb.3_Missense_Mutation_p.R1320Q|WHSC1_uc003gec.3_Missense_Mutation_p.R1320Q|WHSC1_uc003ged.3_Missense_Mutation_p.R1320Q|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.R539Q|WHSC1_uc011bvh.1_Missense_Mutation_p.R381Q|WHSC1_uc010icf.2_Missense_Mutation_p.R668Q	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1320					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCGGACGGGCGGTCCTACTGC	0.612			T	IGH@	MM							
ADD1	118	broad.mit.edu	37	4	2900204	2900204	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:2900204C>T	uc003gfr.2	+	8	1118	c.930C>T	c.(928-930)AGC>AGT	p.S310S	ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Silent_p.S310S|ADD1_uc003gfo.2_Silent_p.S310S|ADD1_uc003gfp.2_Silent_p.S310S|ADD1_uc003gfq.2_Silent_p.S310S|ADD1_uc003gfs.2_Silent_p.S310S|ADD1_uc003gft.3_Silent_p.S310S|ADD1_uc003gfu.2_Silent_p.S95S	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	310					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGGAGAGAGCGTTGAGGAGG	0.507												
RGS12	6002	broad.mit.edu	37	4	3424203	3424203	+	Missense_Mutation	SNP	C	C	T	rs144503690		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:3424203C>T	uc003ggw.2	+	11	3843	c.2939C>T	c.(2938-2940)GCG>GTG	p.A980V	RGS12_uc003ggv.2_Missense_Mutation_p.A980V|RGS12_uc003ggy.1_Missense_Mutation_p.A378V|RGS12_uc003ggz.2_Missense_Mutation_p.A332V|RGS12_uc010icu.1_Missense_Mutation_p.A179V|RGS12_uc011bvs.1_Missense_Mutation_p.A322V|RGS12_uc003gha.2_Missense_Mutation_p.A322V|RGS12_uc010icv.2_Missense_Mutation_p.A179V|RGS12_uc003ghb.2_Missense_Mutation_p.A179V	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	980	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTGTCAAGGCGGGCTTCTCC	0.627												
STK32B	55351	broad.mit.edu	37	4	5458560	5458560	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:5458560G>A	uc003gih.1	+	8	757	c.693G>A	c.(691-693)ACG>ACA	p.T231T	STK32B_uc010ida.1_Silent_p.T184T	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	231	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						ACTCGGTCACGCCCATCGATG	0.532												
EVC2	132884	broad.mit.edu	37	4	5620258	5620258	+	Nonsense_Mutation	SNP	G	G	A	rs146538906		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:5620258G>A	uc003gij.2	-	15	2707	c.2653C>T	c.(2653-2655)CGA>TGA	p.R885*	EVC2_uc011bwb.1_Nonsense_Mutation_p.R325*|EVC2_uc003gik.2_Nonsense_Mutation_p.R805*	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	885						integral to membrane				large_intestine(3)|ovary(2)	5						TCTGCTTCTCGCCACGCAGTC	0.617												
EVC2	132884	broad.mit.edu	37	4	5624349	5624349	+	Missense_Mutation	SNP	C	C	T	rs138128087		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:5624349C>T	uc003gij.2	-	14	2470	c.2416G>A	c.(2416-2418)GTG>ATG	p.V806M	EVC2_uc011bwb.1_Missense_Mutation_p.V246M|EVC2_uc003gik.2_Missense_Mutation_p.V726M	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	806						integral to membrane				large_intestine(3)|ovary(2)	5						CTCTGCCTCACGCTCTGGACA	0.642												
MAN2B2	23324	broad.mit.edu	37	4	6610856	6610856	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:6610856G>A	uc003gjf.1	+	12	1873	c.1837G>A	c.(1837-1839)GTG>ATG	p.V613M	MAN2B2_uc003gje.1_Missense_Mutation_p.V613M|MAN2B2_uc011bwf.1_Missense_Mutation_p.V562M	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	613					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						AACGGTGCGCGTGACCCAGGA	0.572												
ABLIM2	84448	broad.mit.edu	37	4	8108356	8108356	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:8108356G>A	uc003gko.2	-	2	162	c.19C>T	c.(19-21)CCC>TCC	p.P7S	ABLIM2_uc003gkj.3_Missense_Mutation_p.P7S|ABLIM2_uc003gkm.3_Missense_Mutation_p.P7S|ABLIM2_uc003gkp.2_Missense_Mutation_p.P7S|ABLIM2_uc003gkq.2_Missense_Mutation_p.P7S|ABLIM2_uc003gkr.2_Missense_Mutation_p.P7S|ABLIM2_uc003gks.3_Missense_Mutation_p.P7S|ABLIM2_uc011bwl.1_Missense_Mutation_p.P12S	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	7					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						GCAGCCTGGGGCTGCGACACT	0.622												
BOD1L	259282	broad.mit.edu	37	4	13601693	13601693	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:13601693G>A	uc003gmz.1	-	10	6948	c.6831C>T	c.(6829-6831)GGC>GGT	p.G2277G	BOD1L_uc010idr.1_Silent_p.G1614G	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2277							DNA binding			ovary(5)|breast(1)	6						CTGAGGGGTCGCCTTCCTCTT	0.562												
C1QTNF7	114905	broad.mit.edu	37	4	15437526	15437526	+	Silent	SNP	G	G	A	rs141616746	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:15437526G>A	uc011bxb.1	+	2	386	c.159G>A	c.(157-159)GGG>GGA	p.G53G	C1QTNF7_uc003gno.2_Silent_p.G60G|C1QTNF7_uc003gnp.2_Silent_p.G53G	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	53	Collagen-like.					collagen					0						GTTCCCCTGGGCCCCATGGTC	0.537												
LCORL	254251	broad.mit.edu	37	4	17963635	17963635	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:17963635A>T	uc003gpq.2	-	4	332	c.321T>A	c.(319-321)GAT>GAA	p.D107E	LCORL_uc011bxk.1_Missense_Mutation_p.D20E	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						ACTGTGAAGAATCAAGAGATG	0.328												
DHX15	1665	broad.mit.edu	37	4	24578185	24578185	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:24578185G>A	uc003gqx.2	-	2	356	c.188C>T	c.(187-189)GCT>GTT	p.A63V		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	63					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				ATTTGTTGAAGCTCGCAActc	0.408												
SEL1L3	23231	broad.mit.edu	37	4	25849480	25849480	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:25849480C>T	uc003gru.3	-	2	321	c.169G>A	c.(169-171)GTA>ATA	p.V57I		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	57						integral to membrane	binding				0						AAAGATGGTACAACATTCTGA	0.338												
CCKAR	886	broad.mit.edu	37	4	26487494	26487494	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:26487494T>C	uc003gse.1	-	3	544	c.391A>G	c.(391-393)AAT>GAT	p.N131D		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	131	Helical; Name=3; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	GCTACCAGATTAAAGGTAGAT	0.433												
PCDH7	5099	broad.mit.edu	37	4	30724650	30724650	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:30724650G>A	uc003gsk.1	+	1	2614	c.1606G>A	c.(1606-1608)GGC>AGC	p.G536S	PCDH7_uc011bxw.1_Missense_Mutation_p.G489S|PCDH7_uc011bxx.1_Missense_Mutation_p.G536S	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	536	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						GCCCATGTTCGGCCAGTCGGT	0.622												
PCDH7	5099	broad.mit.edu	37	4	30725630	30725630	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:30725630C>T	uc003gsk.1	+	1	3594	c.2586C>T	c.(2584-2586)ACC>ACT	p.T862T	PCDH7_uc011bxw.1_Silent_p.T815T|PCDH7_uc011bxx.1_Silent_p.T862T	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	862	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						TCCCACTCACCCAGGATATAG	0.453												
TLR6	10333	broad.mit.edu	37	4	38830759	38830759	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:38830759C>T	uc003gtm.2	-	1	402	c.336G>A	c.(334-336)TTG>TTA	p.L112L	TLR6_uc010ifg.1_Silent_p.L112L	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	112	LRR 3.|Extracellular (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2						ATATCTTTTGCAACTGATTAT	0.363												
KCTD8	386617	broad.mit.edu	37	4	44177000	44177000	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:44177000C>G	uc003gwu.2	-	2	1513	c.1229G>C	c.(1228-1230)AGT>ACT	p.S410T		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	410						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						AAAGAGTTCACTGTTTCTGCG	0.448										HNSCC(17;0.042)		
ATP10D	57205	broad.mit.edu	37	4	47559796	47559796	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:47559796A>C	uc003gxk.1	+	12	2104	c.1940A>C	c.(1939-1941)GAG>GCG	p.E647A	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	647	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						AGTGGGAAAGAGCCATCTTCT	0.488												
PDGFRA	5156	broad.mit.edu	37	4	55146618	55146618	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:55146618T>C	uc003han.3	+	16	2623	c.2292T>C	c.(2290-2292)CGT>CGC	p.R764R	PDGFRA_uc003haa.2_Silent_p.R524R|PDGFRA_uc010igq.1_Silent_p.R658R|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Silent_p.R143R	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	764	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCTATGATCGTCCAGCCTCAT	0.343			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
TMPRSS11B	132724	broad.mit.edu	37	4	69095169	69095169	+	Missense_Mutation	SNP	C	C	T	rs139488710	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:69095169C>T	uc003hdw.3	-	8	888	c.752G>A	c.(751-753)CGG>CAG	p.R251Q		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	251	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						TTGGACTTTCCGTGTCATATA	0.338												
CSN3	1448	broad.mit.edu	37	4	71114945	71114945	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:71114945T>C	uc003hfe.3	+	4	376	c.318T>C	c.(316-318)ACT>ACC	p.T106T		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	106						extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						ACCCACCCACTGTGGTACGTC	0.468												
C4orf35	85438	broad.mit.edu	37	4	71201895	71201895	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:71201895C>T	uc003hff.2	+	1	1225	c.1139C>T	c.(1138-1140)ACG>ATG	p.T380M		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	380						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				ACAACTGAAACGGATATCTTT	0.398												
PPEF2	5470	broad.mit.edu	37	4	76793201	76793201	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:76793201G>A	uc003hix.2	-	13	1983	c.1626C>T	c.(1624-1626)ACC>ACT	p.T542T	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Silent_p.T542T	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	542					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGAGTGTGTGGGTCACCTTGT	0.433												
SEC31A	22872	broad.mit.edu	37	4	83785682	83785682	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:83785682G>A	uc003hnf.2	-	11	1431	c.1267C>T	c.(1267-1269)CAG>TAG	p.Q423*	SEC31A_uc003hne.2_Nonsense_Mutation_p.Q195*|SEC31A_uc011ccl.1_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnl.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hng.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnh.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hni.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnj.2_Nonsense_Mutation_p.Q423*|SEC31A_uc011ccm.1_Nonsense_Mutation_p.Q418*|SEC31A_uc011ccn.1_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnk.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnm.2_Nonsense_Mutation_p.Q423*|SEC31A_uc003hnn.1_Nonsense_Mutation_p.Q423*|SEC31A_uc003hno.2_Nonsense_Mutation_p.Q423*	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	423	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TGGTGCTGCTGCTGCTGCTGC	0.453												
THAP9	79725	broad.mit.edu	37	4	83838784	83838784	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:83838784G>A	uc003hnt.2	+	5	1538	c.1419G>A	c.(1417-1419)CTG>CTA	p.L473L	THAP9_uc003hns.1_Silent_p.L329L|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Silent_p.L190L	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	473							DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)				ATCATGTACTGAAAGTGAATA	0.388												
WDFY3	23001	broad.mit.edu	37	4	85617311	85617311	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:85617311C>T	uc003hpd.2	-	58	9121	c.8713G>A	c.(8713-8715)GCC>ACC	p.A2905T	WDFY3_uc003hpe.1_Missense_Mutation_p.A516T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2905	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTAGATGGGCACTCACGTAA	0.408												
PTPN13	5783	broad.mit.edu	37	4	87696414	87696414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:87696414C>T	uc003hpz.2	+	34	6079	c.5599C>T	c.(5599-5601)CGA>TGA	p.R1867*	PTPN13_uc003hpy.2_Nonsense_Mutation_p.R1872*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.R1848*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.R1676*|PTPN13_uc003hqc.1_Nonsense_Mutation_p.R233*	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1867	PDZ 4.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTTATTGGACGAGTTCTAGA	0.388												
DMP1	1758	broad.mit.edu	37	4	88584427	88584427	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:88584427A>C	uc003hqv.2	+	6	1601	c.1497A>C	c.(1495-1497)AAA>AAC	p.K499N	DMP1_uc003hqw.2_Missense_Mutation_p.K483N	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	499					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ATCACAACAAACCCATTGGGG	0.448												
SMARCAD1	56916	broad.mit.edu	37	4	95198191	95198191	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:95198191C>T	uc003htc.3	+	16	2218	c.1963C>T	c.(1963-1965)CTC>TTC	p.L655F	SMARCAD1_uc003htb.3_Missense_Mutation_p.L655F|SMARCAD1_uc003htd.3_Missense_Mutation_p.L655F|SMARCAD1_uc010ila.2_Missense_Mutation_p.L518F|SMARCAD1_uc011cdw.1_Missense_Mutation_p.L225F	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	655	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CCGTTTGCTGCTCACAGGCAC	0.398												
BMPR1B	658	broad.mit.edu	37	4	96035949	96035949	+	Silent	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:96035949A>C	uc003htm.3	+	5	496	c.222A>C	c.(220-222)CTA>CTC	p.L74L	BMPR1B_uc010ilb.2_Silent_p.L74L|BMPR1B_uc003htn.3_Silent_p.L74L	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	74	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GCCTAGGACTAGAAGGCTCAG	0.418												
PDHA2	5161	broad.mit.edu	37	4	96761471	96761471	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:96761471C>T	uc003htr.3	+	1	233	c.170C>T	c.(169-171)GCG>GTG	p.A57V		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	57					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTCACTAGGGCGGAGGGGCTT	0.463												
DDIT4L	115265	broad.mit.edu	37	4	101109133	101109133	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:101109133G>A	uc003hvq.2	-	3	486	c.283C>T	c.(283-285)CTT>TTT	p.L95F		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	95					negative regulation of signal transduction	cytoplasm				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		GTTGAGGAAAGCCGCAGGACA	0.458												
MANBA	4126	broad.mit.edu	37	4	103555971	103555971	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:103555971C>T	uc003hwg.2	-	16	2489	c.2389G>A	c.(2389-2391)GTG>ATG	p.V797M	MANBA_uc011ces.1_Missense_Mutation_p.V740M	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	797					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CAGAGCCCCACGGCCTCCTTC	0.582												
SEC24B	10427	broad.mit.edu	37	4	110451569	110451569	+	Silent	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:110451569G>T	uc003hzk.2	+	19	3256	c.3201G>T	c.(3199-3201)GCG>GCT	p.A1067A	SEC24B_uc003hzl.2_Silent_p.A1032A|SEC24B_uc011cfp.1_Silent_p.A1097A|SEC24B_uc011cfq.1_Silent_p.A1066A|SEC24B_uc011cfr.1_Silent_p.A1031A	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1067					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CATTGATGGCGCCCAGCTCCC	0.398												
CCDC109B	55013	broad.mit.edu	37	4	110605647	110605647	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:110605647C>A	uc011cfs.1	+	6	800	c.661C>A	c.(661-663)CTG>ATG	p.L221M		NM_017918	NP_060388	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	221	Helical; (Potential).					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CAGTGGACTCCTGTGGGCTGG	0.493												
LRIT3	345193	broad.mit.edu	37	4	110791250	110791250	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:110791250A>G	uc003hzx.3	+	3	1403	c.1210A>G	c.(1210-1212)AAA>GAA	p.K404E	LRIT3_uc003hzw.3_Missense_Mutation_p.K266E	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	404						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCAAGGTGGGAAAAGAAATTT	0.413												
NEUROG2	63973	broad.mit.edu	37	4	113436263	113436263	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:113436263G>A	uc003ias.2	-	2	696	c.369C>T	c.(367-369)AAC>AAT	p.N123N		NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	123	Helix-loop-helix motif.|Basic motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	p.N123N(1)		skin(2)|central_nervous_system(1)	3		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGTGCATGCGGTTTCGCTCGC	0.672												
ARSJ	79642	broad.mit.edu	37	4	114823740	114823740	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:114823740T>C	uc003ibq.1	-	2	2378	c.1490A>G	c.(1489-1491)AAC>AGC	p.N497S	ARSJ_uc010imu.1_Missense_Mutation_p.N497S|ARSJ_uc010imv.1_Missense_Mutation_p.N325S	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	arylsulfatase J precursor	497						extracellular region	arylsulfatase activity|metal ion binding			ovary(1)	1		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GGCTGTGATGTTGAAAAGCCA	0.517												
SYNPO2	171024	broad.mit.edu	37	4	119948547	119948547	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:119948547G>A	uc003icm.3	+	3	1219	c.1023G>A	c.(1021-1023)TCG>TCA	p.S341S	SYNPO2_uc010ina.2_Silent_p.S341S|SYNPO2_uc010inb.2_Silent_p.S341S|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.S269S	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	341						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						ATCCACGCTCGGAAAAAGATC	0.557												
SYNPO2	171024	broad.mit.edu	37	4	119951141	119951141	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:119951141C>T	uc003icm.3	+	4	1407	c.1211C>T	c.(1210-1212)GCC>GTC	p.A404V	SYNPO2_uc010ina.2_Missense_Mutation_p.A404V|SYNPO2_uc010inb.2_Missense_Mutation_p.A404V|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.A332V	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	404	Poly-Arg.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						CGTCGGAGGGCCAGGAAATAC	0.502												
ANKRD50	57182	broad.mit.edu	37	4	125592090	125592090	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:125592090C>T	uc003ifg.3	-	3	2608	c.2342G>A	c.(2341-2343)GGC>GAC	p.G781D	ANKRD50_uc011cgo.1_Missense_Mutation_p.G602D|ANKRD50_uc010inw.2_Missense_Mutation_p.G781D	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	781	ANK 10.									central_nervous_system(1)	1						GGGTGTACGGCCATTGTTATC	0.473												
FAT4	79633	broad.mit.edu	37	4	126372844	126372844	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:126372844T>C	uc003ifj.3	+	9	10673	c.10673T>C	c.(10672-10674)TTC>TCC	p.F3558S	FAT4_uc011cgp.1_Missense_Mutation_p.F1856S|FAT4_uc003ifi.1_Missense_Mutation_p.F1036S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3558	Cadherin 34.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACCAGTTATTTCAGTCTGAGC	0.478												
FAT4	79633	broad.mit.edu	37	4	126389930	126389930	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:126389930T>G	uc003ifj.3	+	11	12163	c.12163T>G	c.(12163-12165)TCA>GCA	p.S4055A	FAT4_uc011cgp.1_Missense_Mutation_p.S2318A|FAT4_uc003ifi.1_Missense_Mutation_p.S1533A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4055	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAAGAAGGTGTCAGATGGACA	0.388												
PCDH10	57575	broad.mit.edu	37	4	134072704	134072704	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:134072704T>C	uc003iha.2	+	1	2235	c.1409T>C	c.(1408-1410)GTG>GCG	p.V470A	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V470A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	470	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GTCTACGACGTGTATGTGACT	0.617												
ELMOD2	255520	broad.mit.edu	37	4	141446595	141446595	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:141446595T>G	uc003iik.2	+	2	105	c.13T>G	c.(13-15)TTG>GTG	p.L5V		NM_153702	NP_714913	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	5					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)					GTTTATTTCTTTGTGGGAGTT	0.333												
INPP4B	8821	broad.mit.edu	37	4	143324116	143324116	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:143324116T>C	uc003iix.3	-	8	942	c.347A>G	c.(346-348)GAT>GGT	p.D116G	INPP4B_uc003iiw.3_Missense_Mutation_p.D116G|INPP4B_uc011chm.1_RNA|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	116	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					ATCCTTGACATCATAGACTGT	0.398												
POU4F2	5458	broad.mit.edu	37	4	147561385	147561385	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:147561385G>A	uc003ikv.2	+	2	903	c.655G>A	c.(655-657)GCG>ACG	p.A219T		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	219					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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			breast(1)	1	all_hematologic(180;0.151)					GCCGGCTCACGCGCCGCACAT	0.721												
LRBA	987	broad.mit.edu	37	4	151511917	151511917	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:151511917G>A	uc010ipj.2	-	40	6648	c.6174C>T	c.(6172-6174)GGC>GGT	p.G2058G	LRBA_uc003ilt.3_Silent_p.G706G|LRBA_uc003ilu.3_Silent_p.G2047G	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2058						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					TATCATCATCGCCTTCCAGGA	0.428												
LRBA	987	broad.mit.edu	37	4	151749498	151749498	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:151749498A>G	uc010ipj.2	-	30	5479	c.5005T>C	c.(5005-5007)TCA>CCA	p.S1669P	LRBA_uc003ilt.3_Missense_Mutation_p.S328P|LRBA_uc003ilu.3_Missense_Mutation_p.S1669P	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1669						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					ACTGAAACTGACGGTGTAGCC	0.438												
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			Mis|N|D|F		colorectal|endometrial|T-ALL							
DCHS2	54798	broad.mit.edu	37	4	155163925	155163925	+	Splice_Site	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:155163925C>T	uc003inw.2	-	22	5577	c.5577_splice	c.e22-1	p.S1859_splice		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GACAATCAAGCTGGTTTGGAA	0.353												
GRIA2	2891	broad.mit.edu	37	4	158284167	158284167	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:158284167G>A	uc003ipm.3	+	15	3082	c.2623G>A	c.(2623-2625)GTA>ATA	p.V875I	GRIA2_uc011cit.1_Missense_Mutation_p.V828I|GRIA2_uc003ipl.3_Missense_Mutation_p.V875I|GRIA2_uc003ipk.3_Missense_Mutation_p.V828I|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	875	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGGTTACAACGTATATGGCAT	0.403												
FNIP2	57600	broad.mit.edu	37	4	159782803	159782803	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:159782803C>T	uc003iqe.3	+	12	1523	c.1340C>T	c.(1339-1341)GCC>GTC	p.A447V		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	447					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)		TACCACCTGGCCTGGGTCCCA	0.488												
C4orf43	55319	broad.mit.edu	37	4	164428219	164428219	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:164428219A>G	uc003iqq.3	+	2	319	c.38A>G	c.(37-39)GAA>GGA	p.E13G		NM_018352	NP_060822	Q96EY4	CD043_HUMAN	hypothetical protein LOC55319	13											0						GCAGGACGGGAAAAAAAAGTC	0.363												
SPOCK3	50859	broad.mit.edu	37	4	167921509	167921509	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:167921509A>C	uc003iri.1	-	5	491	c.350T>G	c.(349-351)CTT>CGT	p.L117R	SPOCK3_uc011cjp.1_Missense_Mutation_p.L114R|SPOCK3_uc011cjq.1_Missense_Mutation_p.L126R|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003irj.1_Missense_Mutation_p.L114R|SPOCK3_uc011cjs.1_Missense_Mutation_p.L66R|SPOCK3_uc011cjt.1_Missense_Mutation_p.L25R|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Missense_Mutation_p.L114R|SPOCK3_uc011cjw.1_RNA	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	117					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CCTGTGTGTAAGCCTCCGGTG	0.413												
GLRA3	8001	broad.mit.edu	37	4	175580334	175580334	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:175580334T>G	uc003ity.1	-	8	1445	c.942A>C	c.(940-942)AAA>AAC	p.K314N	GLRA3_uc003itz.1_Missense_Mutation_p.K314N	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	314					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TATCAATAGCTTTGACATATG	0.353												
RWDD4A	201965	broad.mit.edu	37	4	184577096	184577096	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:184577096G>A	uc003ivt.1	-	2	269	c.43C>T	c.(43-45)CGC>TGC	p.R15C	RWDD4A_uc003ivu.1_RNA|RWDD4A_uc003ivv.1_Intron|RWDD4A_uc011ckl.1_Intron	NM_152682	NP_689895	Q6NW29	RWDD4_HUMAN	RWD domain containing 4A	15	RWD.										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;7.35e-27)|Epithelial(43;1.49e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.76e-10)|GBM - Glioblastoma multiforme(59;5.54e-06)|Colorectal(24;7.92e-06)|STAD - Stomach adenocarcinoma(60;2.35e-05)|COAD - Colon adenocarcinoma(29;6.26e-05)|LUSC - Lung squamous cell carcinoma(40;0.00935)|READ - Rectum adenocarcinoma(43;0.166)		TAAATAGAGCGTAATGCTTCT	0.343												
FAM149A	25854	broad.mit.edu	37	4	187077204	187077204	+	Missense_Mutation	SNP	G	G	A	rs140463493	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:187077204G>A	uc003iyt.3	+	7	1013	c.434G>A	c.(433-435)CGC>CAC	p.R145H	FAM149A_uc011cla.1_Missense_Mutation_p.R145H|FAM149A_uc010isj.2_Missense_Mutation_p.R145H|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Missense_Mutation_p.R145H|FAM149A_uc010isl.2_Missense_Mutation_p.R145H|FAM149A_uc011clb.1_Missense_Mutation_p.R145H	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	436										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AGGAAATGGCGCAAACTCGGA	0.438												
ZFP42	132625	broad.mit.edu	37	4	188924074	188924074	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	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												
IRX1	79192	broad.mit.edu	37	5	3599722	3599722	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:3599722C>T	uc003jde.2	+	2	712	c.660C>T	c.(658-660)GAC>GAT	p.D220D		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CCGAGGACGACGAGGAGATCG	0.622												
SEMA5A	9037	broad.mit.edu	37	5	9044506	9044506	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:9044506G>A	uc003jek.2	-	22	3796	c.3084C>T	c.(3082-3084)TAC>TAT	p.Y1028Y		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	1028	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CCACCGAGTCGTACTTGTCCA	0.478												
SEMA5A	9037	broad.mit.edu	37	5	9108327	9108327	+	Silent	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:9108327T>G	uc003jek.2	-	16	2710	c.1998A>C	c.(1996-1998)ACA>ACC	p.T666T		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	666	TSP type-1 3.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CGCATTGGGCTGTGCACCGTT	0.537												
CTNND2	1501	broad.mit.edu	37	5	11346489	11346489	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:11346489A>T	uc003jfa.1	-	9	1768	c.1623T>A	c.(1621-1623)GAT>GAA	p.D541E	CTNND2_uc010itt.2_Missense_Mutation_p.D450E|CTNND2_uc011cmy.1_Missense_Mutation_p.D204E|CTNND2_uc011cmz.1_Missense_Mutation_p.D108E|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D108E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	541	ARM 2.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						CCCACCTGGGATCTTTCTGAA	0.458												
MYO10	4651	broad.mit.edu	37	5	16694613	16694613	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:16694613C>T	uc003jft.3	-	27	4135	c.3667G>A	c.(3667-3669)GGG>AGG	p.G1223R	MYO10_uc011cnc.1_Missense_Mutation_p.G102R|MYO10_uc011cnd.1_Missense_Mutation_p.G580R|MYO10_uc011cne.1_Missense_Mutation_p.G580R|MYO10_uc010itx.2_Missense_Mutation_p.G846R	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1223	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						GAGCCCCCCCCTTTTTTGTGG	0.557												
CDH18	1016	broad.mit.edu	37	5	19838877	19838877	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:19838877A>G	uc003jgc.2	-	2	596	c.219T>C	c.(217-219)TAT>TAC	p.Y73Y	CDH18_uc003jgd.2_Silent_p.Y73Y|CDH18_uc011cnm.1_Silent_p.Y73Y	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	73	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCTTTCCAACATACTGAGGAT	0.383												
RNASEN	29102	broad.mit.edu	37	5	31449476	31449476	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:31449476A>G	uc003jhg.2	-	21	3092	c.2733T>C	c.(2731-2733)GAT>GAC	p.D911D	RNASEN_uc003jhh.2_Silent_p.D874D|RNASEN_uc003jhi.2_Silent_p.D874D	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	911	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						TCCTGGCATGATCAGGATTCA	0.363												
PDZD2	23037	broad.mit.edu	37	5	32090071	32090071	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:32090071T>C	uc003jhl.2	+	20	6905	c.6517T>C	c.(6517-6519)TCC>CCC	p.S2173P	PDZD2_uc003jhm.2_Missense_Mutation_p.S2173P	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CTCCTCCTCCTCCCTTCAAAC	0.542												
NPR3	4883	broad.mit.edu	37	5	32712294	32712294	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:32712294T>C	uc003jhv.2	+	1	630	c.412T>C	c.(412-414)TAT>CAT	p.Y138H	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.Y138H	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	138	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)	AGTGTGCGAGTATGCAGCAGC	0.672												
RAI14	26064	broad.mit.edu	37	5	34823324	34823324	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:34823324C>T	uc003jir.2	+	15	1573	c.1377C>T	c.(1375-1377)CTC>CTT	p.L459L	RAI14_uc010iur.2_Silent_p.L430L|RAI14_uc011coj.1_Silent_p.L459L|RAI14_uc003jis.2_Silent_p.L462L|RAI14_uc003jit.2_Silent_p.L459L|RAI14_uc011cok.1_Silent_p.L451L	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	459	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					AGGTCGAACTCCAATCCCGAA	0.428												
SPEF2	79925	broad.mit.edu	37	5	35691158	35691158	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:35691158C>T	uc003jjo.2	+	11	1655	c.1544C>T	c.(1543-1545)GCC>GTC	p.A515V	SPEF2_uc003jjq.3_Missense_Mutation_p.A515V|SPEF2_uc003jjp.1_Missense_Mutation_p.A6V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	515					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGAGTGGGCCTTACCAGAA	0.363												
NIPBL	25836	broad.mit.edu	37	5	37017251	37017251	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:37017251G>A	uc003jkl.3	+	24	5406	c.4907G>A	c.(4906-4908)CGC>CAC	p.R1636H	NIPBL_uc003jkk.3_Missense_Mutation_p.R1636H	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1636					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTATAGAACGCATTTTAAAA	0.328												
GDNF	2668	broad.mit.edu	37	5	37815784	37815784	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:37815784T>G	uc011cpi.1	-	3	805	c.605A>C	c.(604-606)AAG>ACG	p.K202T	GDNF_uc011cpc.1_Missense_Mutation_p.K124T|GDNF_uc011cpd.1_Missense_Mutation_p.K150T|GDNF_uc011cpe.1_Missense_Mutation_p.K176T|GDNF_uc011cpf.1_Missense_Mutation_p.K176T|GDNF_uc011cpg.1_Missense_Mutation_p.K219T|GDNF_uc011cph.1_Missense_Mutation_p.K193T	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	202					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)					AGCGGAATGCTTTCTTAGAAT	0.473												
RICTOR	253260	broad.mit.edu	37	5	38947433	38947433	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:38947433G>A	uc003jlp.2	-	32	4271	c.4247C>T	c.(4246-4248)GCC>GTC	p.A1416V	RICTOR_uc003jlo.2_Missense_Mutation_p.A1440V|RICTOR_uc010ivf.2_Missense_Mutation_p.A1131V	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1416					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					CCCATATGTGGCACTGGACAC	0.383												
CARD6	84674	broad.mit.edu	37	5	40852450	40852450	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:40852450C>T	uc003jmg.2	+	3	1091	c.1016C>T	c.(1015-1017)ACG>ATG	p.T339M		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	339					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						CGAGATGTGACCGCTAGGGAT	0.458												
OXCT1	5019	broad.mit.edu	37	5	41862805	41862805	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:41862805A>G	uc003jmn.2	-	2	457	c.126T>C	c.(124-126)TTT>TTC	p.F42F		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	42					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	GATCTGTATAAAACTTGGTAT	0.373												
ZNF131	7690	broad.mit.edu	37	5	43161497	43161497	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:43161497C>T	uc011cpw.1	+	5	554	c.518C>T	c.(517-519)GCC>GTC	p.A173V	ZNF131_uc010ivl.1_Missense_Mutation_p.A173V|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Missense_Mutation_p.A173V|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	173						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GTAGAGATTGCCGAAGGCACC	0.433												
ITGA1	3672	broad.mit.edu	37	5	52177731	52177731	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:52177731C>T	uc003jou.2	+	7	703	c.651C>T	c.(649-651)AAC>AAT	p.N217N	ITGA1_uc003jov.2_RNA	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	217	Extracellular (Potential).|VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ATGGAGAAAACGTGACCCATG	0.428												
MCCC2	64087	broad.mit.edu	37	5	70942086	70942086	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:70942086T>C	uc003kbs.3	+	13	1336	c.1198T>C	c.(1198-1200)TTC>CTC	p.F400L	MCCC2_uc003kbt.3_RNA	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	400	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)	1		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TCCTCTGCTGTTCCTTCAAAA	0.289												
MRPS27	23107	broad.mit.edu	37	5	71533950	71533950	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:71533950C>T	uc003kbz.3	-	5	323	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	MRPS27_uc003kca.3_Missense_Mutation_p.R40Q|MRPS27_uc011cse.1_Missense_Mutation_p.R110Q|MRPS27_uc010iza.2_Missense_Mutation_p.R40Q|MRPS27_uc010iyz.1_RNA	NM_015084	NP_055899	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	96						mitochondrion|ribosome					0		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		GGGGCTGTGTCGAAACCTAAA	0.408												
ZNF366	167465	broad.mit.edu	37	5	71739855	71739855	+	Missense_Mutation	SNP	C	C	T	rs112462947	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:71739855C>T	uc003kce.1	-	5	2149	c.1963G>A	c.(1963-1965)GCC>ACC	p.A655T		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACCTCGGGGGCGTGCTCCGAC	0.642												
VCAN	1462	broad.mit.edu	37	5	82815203	82815203	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:82815203G>A	uc003kii.3	+	7	1434	c.1078G>A	c.(1078-1080)GCA>ACA	p.A360T	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.A360T|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	360	GAG-alpha (glucosaminoglycan attachment domain).				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)		GAGTATCCTCGCAGAAACTGC	0.368												
COX7C	1350	broad.mit.edu	37	5	85913901	85913901	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:85913901C>T	uc003kir.2	+	1	118	c.29C>T	c.(28-30)ACA>ATA	p.T10I		NM_001867	NP_001858	P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc precursor	10					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		CGGAGGTTCACAACCTCTGTG	0.597												
PCSK1	5122	broad.mit.edu	37	5	95748029	95748029	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:95748029A>G	uc003kls.1	-	7	1081	c.875T>C	c.(874-876)GTC>GCC	p.V292A	PCSK1_uc010jbi.1_Missense_Mutation_p.V53A	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	292	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACCTGTTTGACACCATATTC	0.463												
LNPEP	4012	broad.mit.edu	37	5	96363452	96363452	+	Silent	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:96363452C>A	uc003kmv.1	+	17	3394	c.2880C>A	c.(2878-2880)TCC>TCA	p.S960S	LNPEP_uc003kmw.1_Silent_p.S946S	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	960	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTCTGGGGTCCTATACCATAC	0.383												
ST8SIA4	7903	broad.mit.edu	37	5	100222206	100222206	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:100222206C>T	uc003knk.2	-	3	672	c.344G>A	c.(343-345)CGC>CAC	p.R115H	ST8SIA4_uc003knl.2_Missense_Mutation_p.R115H	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	115	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TAGTGTCCGGCGCCTGTCAAG	0.433												
GIN1	54826	broad.mit.edu	37	5	102444277	102444277	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:102444277G>A	uc003koa.1	-	2	217	c.135C>T	c.(133-135)TTC>TTT	p.F45F	GIN1_uc003kob.1_5'UTR|GIN1_uc003koc.1_Silent_p.F45F	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	45					DNA integration		DNA binding			ovary(1)|skin(1)	2		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TTTTACCTTTGAAGACAAATT	0.338												
PJA2	9867	broad.mit.edu	37	5	108672997	108672997	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:108672997C>A	uc003kos.3	-	10	2282	c.2062G>T	c.(2062-2064)GCT>TCT	p.A688S		NM_014819	NP_055634	O43164	PJA2_HUMAN	praja 2, RING-H2 motif containing	688	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GAGGAAGGAGCTGCAGATGCT	0.473												
DCP2	167227	broad.mit.edu	37	5	112328441	112328441	+	Missense_Mutation	SNP	G	G	A	rs149992344	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:112328441G>A	uc003kqh.2	+	4	604	c.406G>A	c.(406-408)GCT>ACT	p.A136T	DCP2_uc011cwa.1_5'UTR|DCP2_uc010jcc.2_Missense_Mutation_p.A42T	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	136	Nudix box.|Nudix hydrolase.				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)		TAAAGAAGAAGCTCCTCATGA	0.358												
SEMA6A	57556	broad.mit.edu	37	5	115840539	115840539	+	Splice_Site	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:115840539A>G	uc010jck.2	-	2	809	c.100_splice	c.e2+1	p.Y34_splice	SEMA6A_uc003krx.3_Splice_Site_p.Y34_splice	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and						apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATGGGTACTTACAGTTGCCAT	0.423												
SNCAIP	9627	broad.mit.edu	37	5	121780285	121780285	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:121780285A>G	uc003ksw.1	+	8	1656	c.1450A>G	c.(1450-1452)ACC>GCC	p.T484A	SNCAIP_uc011cwl.1_Missense_Mutation_p.T42A|SNCAIP_uc003ksx.1_Missense_Mutation_p.T531A|SNCAIP_uc003ksy.1_Missense_Mutation_p.T118A|SNCAIP_uc003ksz.1_Missense_Mutation_p.T118A|SNCAIP_uc010jcu.2_Missense_Mutation_p.T80A|SNCAIP_uc011cwm.1_Missense_Mutation_p.T118A|SNCAIP_uc003kta.1_Missense_Mutation_p.T116A|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.T178A|SNCAIP_uc010jcx.1_Missense_Mutation_p.T424A|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_5'UTR	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	484	ANK 4.				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGCAAATGTCACCATGCAGAA	0.507												
MEGF10	84466	broad.mit.edu	37	5	126769111	126769111	+	Missense_Mutation	SNP	C	C	T	rs148212621		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:126769111C>T	uc003kuh.3	+	15	2112	c.1750C>T	c.(1750-1752)CCC>TCC	p.P584S	MEGF10_uc003kui.3_Missense_Mutation_p.P584S	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	584	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 11.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGCTCCCTGCCCTGCTACTG	0.577												
CHSY3	337876	broad.mit.edu	37	5	129243787	129243787	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:129243787T>C	uc003kvd.2	+	2	820	c.820T>C	c.(820-822)TTT>CTT	p.F274L		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	274	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATTAGAAGAGTTTCTTAGATC	0.413												
RAPGEF6	51735	broad.mit.edu	37	5	130840422	130840422	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:130840422T>C	uc003kvn.1	-	11	1357	c.1151A>G	c.(1150-1152)GAA>GGA	p.E384G	RAPGEF6_uc003kvp.1_Missense_Mutation_p.E434G|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E384G|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E384G|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E384G|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E101G|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E384G|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E384G	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	384	cNMP.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GGTATTTTTTTCCACATGGTT	0.398												
CDKL3	51265	broad.mit.edu	37	5	133695646	133695646	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:133695646C>T	uc003kzf.3	-	3	421	c.302G>A	c.(301-303)CGA>CAA	p.R101Q	CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.1_5'UTR|CDKL3_uc003kzg.3_Missense_Mutation_p.R101Q|CDKL3_uc011cxr.1_Missense_Mutation_p.R101Q	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	101	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTTCTAAGTCGCTTACTCTC	0.323												
SPOCK1	6695	broad.mit.edu	37	5	136834163	136834163	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:136834163C>T	uc003lbo.2	-	1	276	c.85G>A	c.(85-87)GGA>AGA	p.G29R	SPOCK1_uc003lbp.2_Missense_Mutation_p.G29R	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	29					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)			CCCGCGCCTCCGGCGAGCGCG	0.687												
FAM53C	51307	broad.mit.edu	37	5	137682483	137682483	+	Silent	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:137682483C>A	uc003lcv.2	+	5	1484	c.1014C>A	c.(1012-1014)CCC>CCA	p.P338P	FAM53C_uc003lcw.2_Silent_p.P338P|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_3'UTR	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	338										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCCCCCACCCCTCTCTGCTT	0.612												
MATR3	9782	broad.mit.edu	37	5	138643309	138643309	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:138643309G>A	uc003ldu.2	+	5	632	c.205G>A	c.(205-207)GCT>ACT	p.A69T	MATR3_uc003lds.2_Missense_Mutation_p.A69T|MATR3_uc010jfb.2_Missense_Mutation_p.A69T|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_Missense_Mutation_p.A69T|MATR3_uc003ldx.2_Missense_Mutation_p.A69T|MATR3_uc010jfc.2_Missense_Mutation_p.A69T|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Missense_Mutation_p.A69T|MATR3_uc003lea.2_Missense_Mutation_p.A69T	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	69						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCAACAAGGAGCTCATAGTGC	0.413												
NRG2	9542	broad.mit.edu	37	5	139235336	139235336	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:139235336A>G	uc003lex.1	-	6	1442	c.1217T>C	c.(1216-1218)GTC>GCC	p.V406A	NRG2_uc003lev.1_Missense_Mutation_p.V414A|NRG2_uc003lew.1_Missense_Mutation_p.V408A|NRG2_uc003ley.1_Missense_Mutation_p.V400A	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	406	Helical; Note=Internal signal sequence; (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTCAGGACCCTCTTCTG	0.597												
PCDHA1	56147	broad.mit.edu	37	5	140167303	140167303	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140167303G>A	uc003lhb.2	+	1	1428	c.1428G>A	c.(1426-1428)ACG>ACA	p.T476T	PCDHA1_uc003lha.2_Silent_p.T476T|PCDHA1_uc003lgz.2_Silent_p.T476T	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	476	Cadherin 5.|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)			ACATCTTCACGGTGTCTGCGC	0.652												
PCDHA1	56147	broad.mit.edu	37	5	140167617	140167617	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140167617T>C	uc003lhb.2	+	1	1742	c.1742T>C	c.(1741-1743)GTG>GCG	p.V581A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.V581A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	581	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)			AGTGAGCTGGTGCCGCGATTG	0.652												
PCDHA2	56146	broad.mit.edu	37	5	140175140	140175140	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140175140G>A	uc003lhd.2	+	1	697	c.591G>A	c.(589-591)GGG>GGA	p.G197G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.G197G|PCDHA2_uc011czy.1_Silent_p.G197G	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	197	Extracellular (Potential).|Cadherin 2.				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)			TCGTGCTGGGGAAATCGCTGG	0.453												
PCDHA2	56146	broad.mit.edu	37	5	140175673	140175673	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140175673C>T	uc003lhd.2	+	1	1230	c.1124C>T	c.(1123-1125)TCG>TTG	p.S375L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.S375L|PCDHA2_uc011czy.1_Missense_Mutation_p.S375L	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	375	Cadherin 4.|Extracellular (Potential).				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)			ATCACGGTGTCGGATCGCGAC	0.517												
PCDHA4	56144	broad.mit.edu	37	5	140188759	140188759	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140188759G>A	uc003lhi.2	+	1	2088	c.1987G>A	c.(1987-1989)GCC>ACC	p.A663T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A663T|PCDHA4_uc011daa.1_Missense_Mutation_p.A663T	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	663	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGCCACGGCCACTGTGCT	0.672												
PCDHA5	56143	broad.mit.edu	37	5	140203164	140203164	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140203164T>C	uc003lhl.2	+	1	1804	c.1804T>C	c.(1804-1806)TAC>CAC	p.Y602H	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_Missense_Mutation_p.Y602H|PCDHA5_uc003lhj.1_Missense_Mutation_p.Y602H	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	602	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATTCGGGCTACAACGCTTG	0.672												
PCDHA6	56142	broad.mit.edu	37	5	140209139	140209139	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140209139C>T	uc003lho.2	+	1	1490	c.1463C>T	c.(1462-1464)GCG>GTG	p.A488V	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_Missense_Mutation_p.A488V|PCDHA6_uc011dab.1_Missense_Mutation_p.A488V	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	488	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGAACGCGCTGGTGTCC	0.662												
PCDHA9	9752	broad.mit.edu	37	5	140229360	140229360	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140229360C>T	uc003lhu.2	+	1	2004	c.1280C>T	c.(1279-1281)GCG>GTG	p.A427V	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_uc003lht.1_Missense_Mutation_p.A427V	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTTACCGCGCGGGACGGG	0.632												
PCDHA11	56138	broad.mit.edu	37	5	140250297	140250297	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140250297C>A	uc003lia.2	+	1	2467	c.1609C>A	c.(1609-1611)CGC>AGC	p.R537S	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.R537S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	537	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)			GGTGAGCGCGCGCGATGCGGG	0.672												
PCDHA13	56136	broad.mit.edu	37	5	140263587	140263587	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140263587C>T	uc003lif.2	+	1	1734	c.1734C>T	c.(1732-1734)AGC>AGT	p.S578S	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_Silent_p.S578S|PCDHA13_uc003lid.2_Silent_p.S578S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	578	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)			GCACAGTGAGCGAGCTGATGC	0.672												
PCDHAC2	56134	broad.mit.edu	37	5	140347691	140347691	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140347691C>T	uc003lii.2	+	1	1580	c.1340C>T	c.(1339-1341)CCG>CTG	p.P447L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.P447L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	447	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGGAATACCGCAGCTCACA	0.537												
PCDHB6	56130	broad.mit.edu	37	5	140532163	140532163	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140532163G>T	uc003lir.2	+	1	2325	c.2325G>T	c.(2323-2325)CAG>CAT	p.Q775H	PCDHB6_uc011dah.1_Missense_Mutation_p.Q639H	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	775	Cytoplasmic (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)			TCCCTCCTCAGGGCACTGAGA	0.468												
PCDHB8	56128	broad.mit.edu	37	5	140559277	140559277	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140559277C>T	uc011dai.1	+	1	1848	c.1662C>T	c.(1660-1662)GAC>GAT	p.D554D	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	554	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)			TGGTGCTGGACGCCAACGACA	0.706												
PCDHB16	57717	broad.mit.edu	37	5	140563395	140563395	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140563395C>A	uc003liv.2	+	1	2416	c.1261C>A	c.(1261-1263)CTC>ATC	p.L421I	PCDHB16_uc010jfw.1_Missense_Mutation_p.L93I	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	421	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATATCACCCTCACCGTCAC	0.453												
PCDHB9	56127	broad.mit.edu	37	5	140568260	140568260	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140568260A>G	uc003liw.1	+	3	1369	c.1369A>G	c.(1369-1371)ACC>GCC	p.T457A		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	457	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACCTCCTACACCCTGTTCGT	0.612												
PCDHGA1	56114	broad.mit.edu	37	5	140712379	140712379	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140712379G>A	uc003lji.1	+	1	2128	c.2128G>A	c.(2128-2130)GTG>ATG	p.V710M	PCDHGA1_uc011dan.1_Missense_Mutation_p.V710M	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	710	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTCATCGTGCTGCTGGC	0.662												
PCDHGA2	56113	broad.mit.edu	37	5	140720690	140720690	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140720690C>T	uc003ljk.1	+	1	2337	c.2152C>T	c.(2152-2154)CGC>TGC	p.R718C	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.R718C|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	718	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCTGCGGCGCTGGCACAA	0.642												
PCDHGA3	56112	broad.mit.edu	37	5	140725511	140725511	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140725511G>A	uc003ljm.1	+	1	1911	c.1911G>A	c.(1909-1911)GCG>GCA	p.A637A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A397A|PCDHGA3_uc011dap.1_Silent_p.A637A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	637	Extracellular (Potential).|Cadherin 6.				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)			ACAGAGACGCGCTCAAGCAGA	0.701												
PCDHGB2	56103	broad.mit.edu	37	5	140739781	140739781	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140739781G>A	uc003ljs.1	+	1	79	c.79G>A	c.(79-81)GGG>AGG	p.G27R	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_uc011dar.1_Missense_Mutation_p.G27R	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	27					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)			TTTGTTCCCCGGGGCTCTCCC	0.592											OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCDHGB4	8641	broad.mit.edu	37	5	140769353	140769353	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140769353C>T	uc003lkc.1	+	1	1902	c.1902C>T	c.(1900-1902)GAC>GAT	p.D634D	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_uc011dav.1_Silent_p.D634D	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	634	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|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)			GCGACAGGGACGCCGTCCGCC	0.697												
PCDHGA10	56106	broad.mit.edu	37	5	140795052	140795052	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140795052T>A	uc003lkl.1	+	1	2310	c.2310T>A	c.(2308-2310)AGT>AGA	p.S770R	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_uc011day.1_Missense_Mutation_p.S770R|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	770	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)			CGCGAAAGAGTCACCTGATCT	0.552												
PCDHGA11	56105	broad.mit.edu	37	5	140801469	140801469	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140801469C>T	uc003lkq.1	+	1	933	c.675C>T	c.(673-675)GGC>GGT	p.G225G	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_uc003lko.1_Silent_p.G225G|PCDHGA11_uc003lkp.1_Silent_p.G225G	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	225	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGAAAGGGCGCAGTTCCCA	0.527												
RNF14	9604	broad.mit.edu	37	5	141358224	141358224	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:141358224T>C	uc003lly.2	+	4	702	c.663T>C	c.(661-663)AGT>AGC	p.S221S	RNF14_uc003llz.2_Silent_p.S221S|RNF14_uc003lma.2_Silent_p.S221S|RNF14_uc003lmb.2_Silent_p.S95S|RNF14_uc003lmc.2_Silent_p.S221S|RNF14_uc011dbg.1_Intron|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Silent_p.S221S	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	ring finger protein 14 isoform 1	221	RING-type 1; atypical.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding				0		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TCCTGTGCAGTATCTGTTTCT	0.418												
DPYSL3	1809	broad.mit.edu	37	5	146788339	146788339	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:146788339T>C	uc003lon.1	-	7	752	c.642A>G	c.(640-642)GAA>GAG	p.E214E	DPYSL3_uc003loo.2_Silent_p.E328E	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	214					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCCCCATTTCCAACATGC	0.413												
ABLIM3	22885	broad.mit.edu	37	5	148619446	148619446	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:148619446G>A	uc003lpy.2	+	13	1450	c.1199G>A	c.(1198-1200)CGC>CAC	p.R400H	ABLIM3_uc003lpz.1_Missense_Mutation_p.R400H|ABLIM3_uc003lqa.1_Missense_Mutation_p.R346H|ABLIM3_uc003lqb.2_Missense_Mutation_p.R338H|ABLIM3_uc003lqc.1_Missense_Mutation_p.R400H|ABLIM3_uc003lqd.1_Missense_Mutation_p.R338H|ABLIM3_uc003lqf.2_Missense_Mutation_p.R338H|ABLIM3_uc003lqe.1_Missense_Mutation_p.R338H	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	400					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTACTACCGCTCTGGTAAG	0.642												
AFAP1L1	134265	broad.mit.edu	37	5	148687114	148687114	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:148687114C>T	uc003lqh.2	+	7	816	c.685C>T	c.(685-687)CGG>TGG	p.R229W	AFAP1L1_uc003lqg.3_Missense_Mutation_p.R229W|AFAP1L1_uc010jgy.2_Missense_Mutation_p.R229W	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	229	PH 1.						protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTGCTGCGGAAAAAGCG	0.632												
CSF1R	1436	broad.mit.edu	37	5	149447811	149447811	+	Silent	SNP	C	C	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:149447811C>G	uc003lrl.2	-	10	1788	c.1593G>C	c.(1591-1593)CTG>CTC	p.L531L	CSF1R_uc011dcd.1_Silent_p.L383L|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.L531L	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	531	Helical; (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	gcaggagcagcagcagcagca	0.512												
ARSI	340075	broad.mit.edu	37	5	149677060	149677060	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:149677060T>C	uc003lrv.2	-	2	2016	c.1427A>G	c.(1426-1428)GAC>GGC	p.D476G		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	476						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)			GCCAGCCAGGTCCTCCCGTTC	0.637												
RPS14	6208	broad.mit.edu	37	5	149826384	149826384	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:149826384G>A	uc003lsh.2	-	3	565	c.292C>T	c.(292-294)CGG>TGG	p.R98W	uc003lsg.2_5'Flank|RPS14_uc003lsi.2_Missense_Mutation_p.R98W|RPS14_uc003lsj.2_Missense_Mutation_p.R98W	NM_001025071	NP_001020242	P62263	RS14_HUMAN	ribosomal protein S14	98					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGTGGCCCGGAGTTTGATG	0.572												
NDST1	3340	broad.mit.edu	37	5	149927860	149927860	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:149927860G>A	uc003lsk.3	+	12	2728	c.2226G>A	c.(2224-2226)TCG>TCA	p.S742S	NDST1_uc011dcj.1_Intron	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	742	Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGCATCCTCGAAGCTGCGTG	0.627												
ANXA6	309	broad.mit.edu	37	5	150505975	150505975	+	Silent	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:150505975C>A	uc003ltl.1	-	14	1196	c.1044G>T	c.(1042-1044)GTG>GTT	p.V348V	ANXA6_uc011dcp.1_Silent_p.V316V|ANXA6_uc003ltm.1_Silent_p.V348V|ANXA6_uc003ltn.1_Silent_p.V141V|ANXA6_uc003lto.1_Intron	NM_001155	NP_001146	P08133	ANXA6_HUMAN	annexin VI isoform 1	348						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding				0		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTACTCGGGCCACTGCACTAA	0.597											OREG0016946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAT2	2196	broad.mit.edu	37	5	150900904	150900904	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:150900904C>T	uc003lue.3	-	18	11263	c.11250G>A	c.(11248-11250)ACG>ACA	p.T3750T	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.T443T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3750	Extracellular (Potential).				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)			CGGTGCTGTACGTGGGCCCAA	0.607												
GALNT10	55568	broad.mit.edu	37	5	153674465	153674465	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:153674465C>T	uc003lvh.2	+	2	381	c.249C>T	c.(247-249)GAC>GAT	p.D83D	GALNT10_uc003lvg.1_Silent_p.D83D|GALNT10_uc010jic.2_RNA	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	83	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCCGGAGGGACGCTCAGCGCG	0.458												
RARS	5917	broad.mit.edu	37	5	167915644	167915644	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:167915644G>A	uc003lzx.2	+	2	124	c.83G>A	c.(82-84)CGG>CAG	p.R28Q	RARS_uc011deo.1_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	28	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GAAATTGACCGGTTGAAAAAC	0.368												
SLIT3	6586	broad.mit.edu	37	5	168093623	168093623	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:168093623C>A	uc003mab.2	-	36	4828	c.4408G>T	c.(4408-4410)GCC>TCC	p.A1470S	SLIT3_uc010jjg.2_Missense_Mutation_p.A1477S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1470	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTTGGAGGCTGTGGCACAT	0.602												
DOCK2	1794	broad.mit.edu	37	5	169496192	169496192	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:169496192C>A	uc003maf.2	+	46	4776	c.4696C>A	c.(4696-4698)CTG>ATG	p.L1566M	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.L1058M|DOCK2_uc003mah.2_Missense_Mutation_p.L122M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1566	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGACAAGCTGACCCACCT	0.592												
FAF2	23197	broad.mit.edu	37	5	175933771	175933771	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:175933771A>G	uc003mej.3	+	11	1211	c.1158A>G	c.(1156-1158)GTA>GTG	p.V386V		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	386	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						CTCTGCAGGTAATCCACGACT	0.368												
CDHR2	54825	broad.mit.edu	37	5	176003174	176003174	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:176003174C>T	uc003mem.1	+	12	1248	c.1182C>T	c.(1180-1182)TAC>TAT	p.Y394Y	CDHR2_uc003men.1_Silent_p.Y394Y	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	394	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TGGTGGTCTACGACCCGGACA	0.662												
FGFR4	2264	broad.mit.edu	37	5	176517487	176517487	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:176517487G>A	uc003mfl.2	+	3	355	c.188G>A	c.(187-189)GGT>GAT	p.G63D	FGFR4_uc003mfm.2_Missense_Mutation_p.G63D|FGFR4_uc011dfu.1_Missense_Mutation_p.G63D|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_Missense_Mutation_p.G63D|FGFR4_uc011dfw.1_Missense_Mutation_p.G63D|FGFR4_uc003mfo.2_Missense_Mutation_p.G63D	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	63	Ig-like C2-type 1.|Extracellular (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GCTGAGCGTGGTGGCCACTGG	0.662										TSP Lung(9;0.080)		
LMAN2	10960	broad.mit.edu	37	5	176761333	176761333	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:176761333C>T	uc003mge.2	-	7	1099	c.862G>A	c.(862-864)GAC>AAC	p.D288N	LMAN2_uc003mgd.2_Missense_Mutation_p.D288N	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	288	Lumenal (Potential).				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGTCCAGTCGATGCTCTCC	0.587												
FAM153C	653316	broad.mit.edu	37	5	177473894	177473894	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:177473894G>A	uc011dge.1	+	10	496	c.295G>A	c.(295-297)GCA>ACA	p.A99T	FAM153C_uc003mig.1_Missense_Mutation_p.A99T	NM_001079527	NP_001072995			hypothetical protein LOC653316												0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			TCCTTCCTCTGCACCTGCAGA	0.517												
GRM6	2916	broad.mit.edu	37	5	178413540	178413540	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:178413540C>T	uc003mjr.2	-	8	1894	c.1715G>A	c.(1714-1716)CGC>CAC	p.R572H	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.R155H|GRM6_uc003mjs.1_Missense_Mutation_p.R192H	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	572	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		AGGTGTGGGGCGGCAGCCCGT	0.706												
GRM6	2916	broad.mit.edu	37	5	178413854	178413854	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:178413854C>T	uc003mjr.2	-	7	1664	c.1485G>A	c.(1483-1485)GAG>GAA	p.E495E	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.E78E|GRM6_uc003mjs.1_Silent_p.E115E	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	495	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GTCTGAGGGTCTCTGCCCACT	0.657												
GFPT2	9945	broad.mit.edu	37	5	179743769	179743769	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:179743769C>T	uc003mlw.1	-	12	1245	c.1147G>A	c.(1147-1149)GTG>ATG	p.V383M		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	383	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTTACAGCCACGGCAGCGTGG	0.562												
FLT4	2324	broad.mit.edu	37	5	180053236	180053236	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:180053236C>T	uc003mma.3	-	9	1212	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H	FLT4_uc003mlz.3_Missense_Mutation_p.R378H|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.R378H	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	378	Ig-like C2-type 4.|Extracellular (Potential).		R -> C (in a renal clear cell carcinoma sample; somatic mutation).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.R378C(1)		lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGACTGTGGCGCCCGGACAG	0.647									Congenital_Hereditary_Lymphedema			
TRIM52	84851	broad.mit.edu	37	5	180687440	180687440	+	Silent	SNP	T	T	C	rs80196452		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:180687440T>C	uc003mnp.2	-	1	680	c.375A>G	c.(373-375)GAA>GAG	p.E125E	uc003mnq.2_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	tripartite motif-containing 52	125	Glu-rich.					intracellular	zinc ion binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CTTCTTCTTCTTCCTCCTCGT	0.453												
FAM50B	26240	broad.mit.edu	37	6	3850865	3850865	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:3850865G>A	uc003mvu.2	+	2	932	c.820G>A	c.(820-822)GTG>ATG	p.V274M		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	274						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCACGATGACGTGCGCCTGCT	0.627												
CDYL	9425	broad.mit.edu	37	6	4943797	4943797	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:4943797T>C	uc003mwi.2	+	7	1432	c.1301T>C	c.(1300-1302)TTC>TCC	p.F434S	CDYL_uc003mwj.2_Missense_Mutation_p.F380S|CDYL_uc003mwk.2_Missense_Mutation_p.F145S|CDYL_uc011dhx.1_Missense_Mutation_p.F248S|CDYL_uc011dhy.1_Missense_Mutation_p.F248S	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	434					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GTGAATACTTTCATTCAATTT	0.353												
CDYL	9425	broad.mit.edu	37	6	4952537	4952537	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:4952537C>T	uc003mwi.2	+	8	1663	c.1532C>T	c.(1531-1533)GCG>GTG	p.A511V	CDYL_uc003mwj.2_Missense_Mutation_p.A457V|CDYL_uc003mwk.2_Missense_Mutation_p.A222V|CDYL_uc011dhx.1_Missense_Mutation_p.A325V|CDYL_uc011dhy.1_Missense_Mutation_p.A325V	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	511					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AAGCTGACAGCGCAGGAGGCG	0.577												
FARS2	10667	broad.mit.edu	37	6	5369002	5369002	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:5369002A>G	uc010jnv.1	+	2	535	c.199A>G	c.(199-201)ACC>GCC	p.T67A	FARS2_uc003mwr.2_Missense_Mutation_p.T67A|FARS2_uc003mws.1_Missense_Mutation_p.T67A	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	67					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CAGCAACCTCACCCGGAAGGT	0.587												
LY86	9450	broad.mit.edu	37	6	6588968	6588968	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:6588968A>G	uc003mwy.1	+	1	35	c.1A>G	c.(1-3)ATG>GTG	p.M1V	LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	MD-1, RP105-associated precursor	1					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane					0	Ovarian(93;0.0377)					GGCCCCCACCATGAAGGGTTT	0.522												
RREB1	6239	broad.mit.edu	37	6	7248924	7248924	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:7248924C>T	uc003mxc.2	+	12	5177	c.4787C>T	c.(4786-4788)GCC>GTC	p.A1596V	RREB1_uc003mxb.2_Missense_Mutation_p.A1651V|RREB1_uc010jnx.2_Missense_Mutation_p.A1385V	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1596					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCAACAACGCCGTCTCAGAG	0.622												
DSP	1832	broad.mit.edu	37	6	7576615	7576615	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:7576615C>T	uc003mxp.1	+	19	2998	c.2719C>T	c.(2719-2721)CGC>TGC	p.R907C	DSP_uc003mxq.1_Missense_Mutation_p.R907C	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	907	Globular 1.|Spectrin 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGCTAAACGCCGCCAGGA	0.423												
DSP	1832	broad.mit.edu	37	6	7585193	7585193	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:7585193T>C	uc003mxp.1	+	24	7977	c.7698T>C	c.(7696-7698)GGT>GGC	p.G2566G	DSP_uc003mxq.1_Silent_p.G1967G	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2566	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAAAAATGGTGTCGGCACCA	0.488												
NEDD9	4739	broad.mit.edu	37	6	11191366	11191366	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:11191366G>A	uc003mzv.2	-	5	903	c.736C>T	c.(736-738)CCC>TCC	p.P246S	NEDD9_uc010joz.2_Missense_Mutation_p.P246S|NEDD9_uc003mzw.3_Missense_Mutation_p.P100S	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	246					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGTCTCATGGGAGGGGGGAAG	0.527												
GFOD1	54438	broad.mit.edu	37	6	13365145	13365145	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:13365145C>T	uc003nat.1	-	2	1668	c.1003G>A	c.(1003-1005)GCC>ACC	p.A335T	GFOD1_uc003nas.1_Missense_Mutation_p.A232T	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	335						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TCGAAGGTGGCGGCCATGGTG	0.647												
JARID2	3720	broad.mit.edu	37	6	15496493	15496493	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:15496493C>A	uc003nbj.2	+	7	1281	c.1037C>A	c.(1036-1038)GCT>GAT	p.A346D	JARID2_uc011diu.1_Missense_Mutation_p.A210D|JARID2_uc011div.1_Missense_Mutation_p.A174D|JARID2_uc011diw.1_Missense_Mutation_p.A308D	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	346					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACGAAGGGGGCTGTCACATAC	0.517												
KIAA0319	9856	broad.mit.edu	37	6	24588957	24588957	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:24588957G>A	uc011djo.1	-	4	1095	c.858C>T	c.(856-858)ACC>ACT	p.T286T	KIAA0319_uc011djp.1_Silent_p.T241T|KIAA0319_uc003neh.1_Silent_p.T286T|KIAA0319_uc011djq.1_Silent_p.T277T|KIAA0319_uc011djr.1_Silent_p.T286T	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	286	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						TTTTCTCCACGGTGACTGAGC	0.517												
TRIM38	10475	broad.mit.edu	37	6	25966795	25966795	+	Silent	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:25966795C>A	uc003nfm.2	+	3	480	c.45C>A	c.(43-45)ACC>ACA	p.T15T	TRIM38_uc003nfn.2_Silent_p.T15T	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	15					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0						AGGAAGCCACCTGCTCCATCT	0.478												
HIST1H3F	8968	broad.mit.edu	37	6	26250706	26250706	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:26250706C>A	uc003nhg.1	-	1	130	c.128G>T	c.(127-129)AGG>ATG	p.R43M	HIST1H2BH_uc003nhh.2_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	43					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0						AGTACCAGGCCTGTAGCGGTG	0.617												
HIST1H2AL	8332	broad.mit.edu	37	6	27833428	27833428	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:27833428G>A	uc003njw.2	+	1	322	c.296G>A	c.(295-297)GGC>GAC	p.G99D		NM_003511	NP_003502	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	99					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						AAGCTGCTGGGCAAAGTAACC	0.592												
NKAPL	222698	broad.mit.edu	37	6	28227419	28227419	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:28227419G>A	uc003nkt.2	+	1	322	c.270G>A	c.(268-270)TCG>TCA	p.S90S	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	90										upper_aerodigestive_tract(1)|ovary(1)	2						GGTCGACCTCGTATAGTGGAT	0.582												
OR10C1	442194	broad.mit.edu	37	6	29408492	29408492	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:29408492C>T	uc011dlp.1	+	1	700	c.700C>T	c.(700-702)CGC>TGC	p.R234C	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGCGGGCCGCCGCAAGGCCTT	0.592												
CLIC1	1192	broad.mit.edu	37	6	31704062	31704062	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:31704062G>A	uc003nwr.2	-	1	280	c.16C>T	c.(16-18)CCG>TCG	p.P6S	CLIC1_uc003rje.2_Missense_Mutation_p.P6S	NM_001288	NP_001279	O00299	CLIC1_HUMAN	chloride intracellular channel 1	6	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						TCGACCTGCGGTTGTTCTTCA	0.597												
NEU1	4758	broad.mit.edu	37	6	31829855	31829855	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:31829855G>A	uc003nxq.3	-	2	429	c.273C>T	c.(271-273)CTC>CTT	p.L91L	NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Intron|NEU1_uc003nxs.3_Silent_p.L91L	NM_000434	NP_000425	Q99519	NEUR1_HUMAN	neuraminidase precursor	91			L -> R (in SIALIDOSIS; type 2).			cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			ovary(1)	1					Oseltamivir(DB00198)|Zanamivir(DB00558)	CAGCAAAGGCGAGAAGAGTGC	0.592												
PRRT1	80863	broad.mit.edu	37	6	32117390	32117390	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:32117390T>C	uc003nzt.2	-	3	784	c.668A>G	c.(667-669)TAC>TGC	p.Y223C	PRRT1_uc003nzs.2_Missense_Mutation_p.Y264C|PRRT1_uc003nzu.2_Silent_p.L115L	NM_030651	NP_085154	Q99946	PRRT1_HUMAN	NG5 protein	223					response to biotic stimulus	integral to membrane				breast(1)	1						GATGGGCATGTAGTCGTGTGG	0.682												
AGPAT1	10554	broad.mit.edu	37	6	32137211	32137211	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:32137211G>A	uc003oae.2	-	7	1012	c.694C>T	c.(694-696)CGG>TGG	p.R232W	PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.R196W|AGPAT1_uc003oaf.2_Missense_Mutation_p.R232W|AGPAT1_uc003oag.2_Missense_Mutation_p.R122W|AGPAT1_uc003oah.2_Missense_Mutation_p.R232W|AGPAT1_uc003oai.1_Missense_Mutation_p.R232W|AGPAT1_uc011dpl.1_Missense_Mutation_p.R120W	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	232					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1						GGCAGCACCCGCACCTGACAT	0.617												
TAP2	6891	broad.mit.edu	37	6	32803500	32803500	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:32803500C>T	uc003occ.2	-	3	690	c.659G>A	c.(658-660)CGA>CAA	p.R220Q	TAP2_uc011dqf.1_Missense_Mutation_p.R220Q|TAP2_uc003ocb.1_Missense_Mutation_p.R220Q|TAP2_uc003ocd.2_Missense_Mutation_p.R220Q	NM_018833	NP_061313	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family	220	Cytoplasmic (Potential).|ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding				0						CAAGTTGATTCGAGACATGGT	0.587												
KIFC1	3833	broad.mit.edu	37	6	33373357	33373357	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:33373357G>T	uc003oef.3	+	7	1935	c.1485G>T	c.(1483-1485)GAG>GAT	p.E495D	KIFC1_uc011drf.1_Missense_Mutation_p.E487D	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	495	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						CAGGGAGTGAGGAGCTCACTG	0.587												
ITPR3	3710	broad.mit.edu	37	6	33643506	33643506	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:33643506G>A	uc011drk.1	+	25	3374	c.3155G>A	c.(3154-3156)GGC>GAC	p.G1052D		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1052	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GACGAGGGCGGCCGCATGTTC	0.647												
GRM4	2914	broad.mit.edu	37	6	34101128	34101128	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:34101128A>T	uc003oir.3	-	1	316	c.146T>A	c.(145-147)ATC>AAC	p.I49N	GRM4_uc011dsn.1_Missense_Mutation_p.I49N|GRM4_uc010jvh.2_Missense_Mutation_p.I49N|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_5'UTR	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	49	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	TCCCAGTGTGATGTCCCCATC	0.602												
PACSIN1	29993	broad.mit.edu	37	6	34499507	34499507	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:34499507G>A	uc003ojo.2	+	9	1374	c.1168G>A	c.(1168-1170)GTG>ATG	p.V390M	PACSIN1_uc003ojp.2_Missense_Mutation_p.V390M	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	390	SH3.				endocytosis		protein kinase activity				0						GGGAGTGCGCGTGCGGGCACT	0.662												
UHRF1BP1	54887	broad.mit.edu	37	6	34804017	34804017	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:34804017C>T	uc003oju.3	+	8	1159	c.925C>T	c.(925-927)CGC>TGC	p.R309C	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	309										ovary(3)	3						CAGCAGCAGCCGCCTCAGCCA	0.567												
PPARD	5467	broad.mit.edu	37	6	35392439	35392439	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:35392439C>T	uc003okm.2	+	7	1270	c.961C>T	c.(961-963)CGC>TGC	p.R321C	PPARD_uc003okl.2_Missense_Mutation_p.R321C|PPARD_uc003okn.2_Missense_Mutation_p.R321C|PPARD_uc011dtb.1_Missense_Mutation_p.R282C|PPARD_uc011dtc.1_Missense_Mutation_p.R223C	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	321	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	GCGCAGCCTCCGCAAACCCTT	0.547												
ETV7	51513	broad.mit.edu	37	6	36343699	36343699	+	Missense_Mutation	SNP	C	C	T	rs9394345	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:36343699C>T	uc003omb.2	-	3	405	c.256G>A	c.(256-258)GCC>ACC	p.A86T	ETV7_uc003olz.1_Missense_Mutation_p.A86T|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Intron|ETV7_uc010jwj.2_Missense_Mutation_p.R13H|ETV7_uc010jwh.2_Missense_Mutation_p.A5T|ETV7_uc010jwi.2_Missense_Mutation_p.A86T|ETV7_uc011dtl.1_Intron	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	86	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						ATGCAGAGGGCGCGTCCGTTC	0.642												
DNAH8	1769	broad.mit.edu	37	6	38976649	38976649	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:38976649A>G	uc003ooe.1	+	87	13223	c.12623A>G	c.(12622-12624)GAG>GGG	p.E4208G		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CAACCCAAAGAGAGTGGAGGT	0.423												
DAAM2	23500	broad.mit.edu	37	6	39824082	39824082	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:39824082G>A	uc003oow.2	+	2	160	c.4G>A	c.(4-6)GCC>ACC	p.A2T	DAAM2_uc010jxc.2_Missense_Mutation_p.A2T|DAAM2_uc003oox.2_Missense_Mutation_p.A2T|DAAM2_uc003oov.3_Missense_Mutation_p.A2T|DAAM2_uc003ooy.3_Missense_Mutation_p.A2T	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	2					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGTGACCATGGCCCCCCGCAA	0.607												
LRFN2	57497	broad.mit.edu	37	6	40360464	40360464	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:40360464G>A	uc003oph.1	-	3	2053	c.1588C>T	c.(1588-1590)CTG>TTG	p.L530L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	530	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGCCGCCCAGAATCTGGCTG	0.602												
FOXP4	116113	broad.mit.edu	37	6	41533592	41533592	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:41533592G>A	uc003oql.2	+	2	552	c.94G>A	c.(94-96)GGC>AGC	p.G32S	FOXP4_uc003oqm.2_Missense_Mutation_p.G32S|FOXP4_uc003oqn.2_Missense_Mutation_p.G32S	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	32					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGGCAGCAGCGGCGGGGCCAC	0.622												
MDFI	4188	broad.mit.edu	37	6	41613956	41613956	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:41613956G>A	uc003oqp.3	+	4	498	c.169G>A	c.(169-171)GCG>ACG	p.A57T	MDFI_uc003oqq.3_Missense_Mutation_p.A57T|MDFI_uc010jxn.2_Missense_Mutation_p.A57T	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	57					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CCTGGAGGAGGCGGCAACCCC	0.632												
USP49	25862	broad.mit.edu	37	6	41773695	41773695	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:41773695C>A	uc003ori.2	-	4	1249	c.1027G>T	c.(1027-1029)GAG>TAG	p.E343*		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	343					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGATGAGCTCCAGACTCCGA	0.602												
TRERF1	55809	broad.mit.edu	37	6	42227276	42227276	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:42227276C>T	uc003osd.2	-	9	2633	c.2070G>A	c.(2068-2070)CCG>CCA	p.P690P	TRERF1_uc011duq.1_Silent_p.P607P|TRERF1_uc003osb.2_Silent_p.P446P|TRERF1_uc003osc.2_Silent_p.P446P|TRERF1_uc003ose.2_Silent_p.P710P	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	690	Pro-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGAGGACGCGCGGGGAGCGCA	0.726												
CUL7	9820	broad.mit.edu	37	6	43010580	43010580	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:43010580G>A	uc003otq.2	-	19	3908	c.3605C>T	c.(3604-3606)GCG>GTG	p.A1202V	CUL7_uc010jyg.2_Missense_Mutation_p.A481V|CUL7_uc011dvb.1_Missense_Mutation_p.A1286V|CUL7_uc010jyh.2_Missense_Mutation_p.A195V|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1202					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAAGGCTCCCGCACAGCCATT	0.547												
TTBK1	84630	broad.mit.edu	37	6	43222808	43222808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:43222808C>T	uc003ouq.1	+	7	877	c.598C>T	c.(598-600)CGA>TGA	p.R200*		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	200	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCCGGGTTTCGAGGAACGGT	0.607												
RSPH9	221421	broad.mit.edu	37	6	43612906	43612906	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:43612906G>A	uc003ovw.1	+	1	97	c.71G>A	c.(70-72)CGT>CAT	p.R24H	RSPH9_uc003ovx.1_Missense_Mutation_p.R24H	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog	24					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				upper_aerodigestive_tract(1)|skin(1)	2						AGCCCGGACCGTCGGGCCTCG	0.662									Kartagener_syndrome			
SLC29A1	2030	broad.mit.edu	37	6	44198398	44198398	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:44198398G>A	uc003owu.1	+	7	1012	c.683G>A	c.(682-684)CGC>CAC	p.R228H	SLC29A1_uc003owv.1_Missense_Mutation_p.R228H|SLC29A1_uc003oww.1_Missense_Mutation_p.R307H|SLC29A1_uc003owx.1_Missense_Mutation_p.R228H|SLC29A1_uc003owy.1_Missense_Mutation_p.R228H|SLC29A1_uc003owz.1_Missense_Mutation_p.R228H	NM_004955	NP_004946	Q99808	S29A1_HUMAN	equilibrative nucleoside transporter 1	228	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			large_intestine(2)|skin(1)	3	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GGCCTGCCCCGCCTGGTGAGT	0.557												
CRISP1	167	broad.mit.edu	37	6	49825053	49825053	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:49825053T>C	uc003ozw.2	-	2	140	c.61A>G	c.(61-63)ATG>GTG	p.M21V	CRISP1_uc003ozx.2_Missense_Mutation_p.M21V	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	21					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)					CATACTTTCATGGACAACATA	0.244												
PKHD1	5314	broad.mit.edu	37	6	51892954	51892954	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:51892954C>T	uc003pah.1	-	30	3836	c.3560G>A	c.(3559-3561)GGG>GAG	p.G1187E	PKHD1_uc003pai.2_Missense_Mutation_p.G1187E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1187	Extracellular (Potential).|IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GTCACCTCACCCTTGTGAGTG	0.468												
ICK	22858	broad.mit.edu	37	6	52883237	52883237	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:52883237G>A	uc003pbh.2	-	8	1044	c.554C>T	c.(553-555)GCG>GTG	p.A185V	ICK_uc003pbi.2_Missense_Mutation_p.A185V|ICK_uc003pbj.2_Missense_Mutation_p.A185V	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	185	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.A185A(1)		ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1)	5	Lung NSC(77;0.103)					GCAGCCCACCGCCCAGACGTC	0.512												
COL21A1	81578	broad.mit.edu	37	6	56047377	56047377	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:56047377G>A	uc003pcs.2	-	2	272	c.40C>T	c.(40-42)CTG>TTG	p.L14L	COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Silent_p.L14L|COL21A1_uc003pcu.1_Silent_p.L14L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	14					cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGAAGAAGCAGCACCAAAACC	0.353												
DST	667	broad.mit.edu	37	6	56382024	56382024	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:56382024C>T	uc003pdf.2	-	65	12000	c.11972G>A	c.(11971-11973)TGC>TAC	p.C3991Y	DST_uc003pcz.3_Missense_Mutation_p.C3813Y|DST_uc011dxj.1_Missense_Mutation_p.C3842Y|DST_uc011dxk.1_Missense_Mutation_p.C3853Y|DST_uc003pcy.3_Missense_Mutation_p.C3487Y	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5899	Spectrin 10.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTTCACTGCATGCGGTCAT	0.388												
DST	667	broad.mit.edu	37	6	56489995	56489995	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:56489995C>T	uc003pdf.2	-	34	4719	c.4691G>A	c.(4690-4692)CGC>CAC	p.R1564H	DST_uc003pcz.3_Missense_Mutation_p.R1386H|DST_uc011dxj.1_Missense_Mutation_p.R1415H|DST_uc011dxk.1_Missense_Mutation_p.R1426H|DST_uc003pcy.3_Missense_Mutation_p.R1060H|DST_uc003pdb.2_Missense_Mutation_p.R1060H|DST_uc003pdc.3_Missense_Mutation_p.R1060H|DST_uc003pdd.3_Missense_Mutation_p.R1060H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	1386	Nuclear localization signal; in isoform 6 (By similarity).				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATTCTTCGGCGTTTCACTGG	0.363												
DST	667	broad.mit.edu	37	6	56501366	56501366	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:56501366C>T	uc003pdf.2	-	22	2978	c.2950G>A	c.(2950-2952)GCG>ACG	p.A984T	DST_uc003pcz.3_Missense_Mutation_p.A806T|DST_uc011dxj.1_Missense_Mutation_p.A835T|DST_uc011dxk.1_Missense_Mutation_p.A846T|DST_uc003pcy.3_Missense_Mutation_p.A480T|DST_uc003pdb.2_Missense_Mutation_p.A480T|DST_uc003pdc.3_Missense_Mutation_p.A480T|DST_uc003pdd.3_Missense_Mutation_p.A480T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	806					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCGAAATACGCTGTGTTCTCC	0.408												
KIAA1586	57691	broad.mit.edu	37	6	56917509	56917509	+	Missense_Mutation	SNP	G	G	A	rs147392367		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:56917509G>A	uc003pdj.2	+	4	382	c.212G>A	c.(211-213)CGA>CAA	p.R71Q	KIAA1586_uc011dxm.1_Missense_Mutation_p.R44Q	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	hypothetical protein LOC57691	71							nucleic acid binding				0	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGCCAAAACGACAGGGTGAT	0.303												
COL9A1	1297	broad.mit.edu	37	6	70944498	70944498	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:70944498G>A	uc003pfg.3	-	34	2417	c.2258C>T	c.(2257-2259)CCG>CTG	p.P753L	COL9A1_uc003pfe.3_Missense_Mutation_p.P302L|COL9A1_uc003pff.3_Missense_Mutation_p.P510L	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	753	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						ACCACTCACCGGAGGGCCCTG	0.612												
OGFRL1	79627	broad.mit.edu	37	6	72011140	72011140	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:72011140G>A	uc003pfx.1	+	7	907	c.744G>A	c.(742-744)GAG>GAA	p.E248E		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	248						membrane	receptor activity				0						GCCTTGGTGAGCTTGGATATG	0.373												
COL12A1	1303	broad.mit.edu	37	6	75875263	75875263	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:75875263A>G	uc003phs.2	-	14	3109	c.2943T>C	c.(2941-2943)AGT>AGC	p.S981S	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	981	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTCCTTCTCCACTGCTGTAAG	0.438												
TMEM30A	55754	broad.mit.edu	37	6	75968604	75968604	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:75968604G>A	uc003phw.2	-	6	1062	c.784C>T	c.(784-786)CGT>TGT	p.R262C	TMEM30A_uc003phx.2_Missense_Mutation_p.R226C	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	transmembrane protein 30A isoform 1	262						integral to membrane					0						GCTGCAGTACGCATCCAAACA	0.383												
SENP6	26054	broad.mit.edu	37	6	76425219	76425219	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:76425219G>T	uc003pid.3	+	24	3867	c.3248G>T	c.(3247-3249)AGC>ATC	p.S1083I	SENP6_uc003pie.3_Missense_Mutation_p.S1076I|SENP6_uc010kbf.2_RNA	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	1083	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				GAAGATCAGAGCAAAGAGAAA	0.383												
MYO6	4646	broad.mit.edu	37	6	76623846	76623846	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:76623846G>A	uc003pih.1	+	34	3785	c.3506G>A	c.(3505-3507)CGC>CAC	p.R1169H	MYO6_uc003pii.1_Missense_Mutation_p.R1146H|MYO6_uc003pij.1_Missense_Mutation_p.R117H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1178					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CGACAGCAACGCTTCTTCCGC	0.498												
MYO6	4646	broad.mit.edu	37	6	76624589	76624589	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:76624589C>T	uc003pih.1	+	35	3997	c.3718C>T	c.(3718-3720)CGT>TGT	p.R1240C	MYO6_uc003pii.1_Missense_Mutation_p.R1217C|MYO6_uc003pij.1_Missense_Mutation_p.R188C	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1249					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GACTCGGAAGCGTGGTGCTGA	0.493												
IBTK	25998	broad.mit.edu	37	6	82933262	82933262	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:82933262A>C	uc003pjl.1	-	8	1546	c.1019T>G	c.(1018-1020)ATT>AGT	p.I340S	IBTK_uc011dyv.1_Missense_Mutation_p.I340S|IBTK_uc011dyw.1_Missense_Mutation_p.I340S|IBTK_uc010kbi.1_Missense_Mutation_p.I34S|IBTK_uc003pjm.2_Missense_Mutation_p.I340S	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	340					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		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)		AGACAGAGCAATGTCTTTATG	0.423												
C6orf165	154313	broad.mit.edu	37	6	88136278	88136278	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:88136278T>C	uc003plv.2	+	8	967	c.875T>C	c.(874-876)ATG>ACG	p.M292T	C6orf165_uc003plw.2_Missense_Mutation_p.M104T|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.M292T	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	292										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GAAGTGGAAATGATGACAAAA	0.308												
CNR1	1268	broad.mit.edu	37	6	88854388	88854388	+	Silent	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:88854388G>T	uc011dzq.1	-	2	4169	c.606C>A	c.(604-606)GCC>GCA	p.A202A	CNR1_uc010kbz.2_Silent_p.A202A|CNR1_uc011dzr.1_Silent_p.A202A|CNR1_uc011dzs.1_Silent_p.A202A|CNR1_uc003pmq.3_Silent_p.A202A|CNR1_uc011dzt.1_Silent_p.A202A|CNR1_uc010kca.2_Silent_p.A169A	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	202	Helical; Name=3; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCCCACGGAGGCAGTGAAGG	0.552												
USP45	85015	broad.mit.edu	37	6	99956514	99956514	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:99956514A>C	uc003ppx.2	-	3	778	c.245T>G	c.(244-246)ATT>AGT	p.I82S	USP45_uc003ppw.2_5'UTR|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Missense_Mutation_p.I82S|USP45_uc003ppz.2_Missense_Mutation_p.I82S|USP45_uc003pqa.2_Missense_Mutation_p.I82S	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	82	UBP-type.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|breast(1)	2		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GCACAACCAAATATCAGAAGT	0.363												
SIM1	6492	broad.mit.edu	37	6	100838779	100838779	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:100838779C>T	uc003pqj.3	-	11	1966	c.1759G>A	c.(1759-1761)GCC>ACC	p.A587T	SIM1_uc010kcu.2_Missense_Mutation_p.A587T	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	587	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCTGAGGGGGCTTTCCTTAGC	0.453												
ASCC3	10973	broad.mit.edu	37	6	101037604	101037604	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:101037604G>A	uc003pqk.2	-	36	5785	c.5456C>T	c.(5455-5457)GCC>GTC	p.A1819V		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1819	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAATAGGAGGCAATTCGGCC	0.343												
ASCC3	10973	broad.mit.edu	37	6	101315870	101315870	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:101315870C>A	uc003pqk.2	-	2	333	c.4G>T	c.(4-6)GCT>TCT	p.A2S	ASCC3_uc011eai.1_5'UTR|ASCC3_uc003pql.2_Missense_Mutation_p.A2S|ASCC3_uc010kcv.2_Missense_Mutation_p.A2S|ASCC3_uc003pqm.2_Missense_Mutation_p.A2S	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CGAGGTAAAGCCATCTATTAT	0.373												
BEND3	57673	broad.mit.edu	37	6	107390422	107390422	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:107390422C>T	uc003prs.2	-	5	2623	c.1973G>A	c.(1972-1974)CGC>CAC	p.R658H		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	658										ovary(3)	3						GTGGACCTTGCGCTGCTGCTG	0.657												
SOBP	55084	broad.mit.edu	37	6	107908293	107908293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:107908293G>T	uc003prx.2	+	5	1087	c.583G>T	c.(583-585)GAA>TAA	p.E195*	SOBP_uc003prw.1_Nonsense_Mutation_p.E195*	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	195							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGCTAGAGATGAAGATGGACA	0.373												
SLC16A10	117247	broad.mit.edu	37	6	111498462	111498462	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:111498462G>T	uc003pus.2	+	3	711	c.536G>T	c.(535-537)GGC>GTC	p.G179V	SLC16A10_uc003pur.3_Missense_Mutation_p.G179V|SLC16A10_uc003put.2_5'UTR	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	solute carrier family 16, member 10	179	Helical; (Potential).				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity				0		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TTTGCCTGCGGCTGCTCCTTT	0.453												
ROS1	6098	broad.mit.edu	37	6	117706978	117706978	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:117706978G>A	uc003pxp.1	-	15	2371	c.2172C>T	c.(2170-2172)GGC>GGT	p.G724G	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	724	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAAAAACGTCGCCTTTCGTGT	0.428			T	GOPC|ROS1	glioblastoma|NSCLC							
DCBLD1	285761	broad.mit.edu	37	6	117860470	117860470	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:117860470T>C	uc003pxs.2	+	9	1154	c.1029T>C	c.(1027-1029)AGT>AGC	p.S343S	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.S343S|DCBLD1_uc003pxt.1_5'UTR	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	343	F5/8 type C.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ATGTTAAGAGTTTTGTGATGA	0.308												
C6orf170	221322	broad.mit.edu	37	6	121412168	121412168	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:121412168G>A	uc003pyo.1	-	31	3553	c.3485C>T	c.(3484-3486)ACC>ATC	p.T1162I		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	1162	Rab-GAP TBC.				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		AAAACACTGGGTTATCCATTG	0.284												
HSF2	3298	broad.mit.edu	37	6	122743435	122743435	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:122743435T>C	uc003pyu.2	+	8	1009	c.822T>C	c.(820-822)GAT>GAC	p.D274D	HSF2_uc003pyv.2_Silent_p.D274D	NM_004506	NP_004497	Q03933	HSF2_HUMAN	heat shock transcription factor 2 isoform a	274					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TTATATCTGATCCCTCCAAGT	0.284												
C6orf174	387104	broad.mit.edu	37	6	127796999	127796999	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:127796999G>A	uc003qbd.2	-	6	3037	c.2172C>T	c.(2170-2172)TAC>TAT	p.Y724Y	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	724	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CGCGGTTCTCGTACTGCAGCT	0.677												
PTPRK	5796	broad.mit.edu	37	6	128297891	128297891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:128297891G>A	uc003qbk.2	-	27	4244	c.3877C>T	c.(3877-3879)CGA>TGA	p.R1293*	PTPRK_uc003qbj.2_Nonsense_Mutation_p.R1294*|PTPRK_uc010kfc.2_Nonsense_Mutation_p.R1300*|PTPRK_uc011ebu.1_Nonsense_Mutation_p.R1316*	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1293	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGCCATATCGTAGCATCCCT	0.388												
MED23	9439	broad.mit.edu	37	6	131914253	131914253	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:131914253A>T	uc003qcs.1	-	24	3465	c.3291T>A	c.(3289-3291)TTT>TTA	p.F1097L	MED23_uc003qcq.2_Missense_Mutation_p.F1103L|MED23_uc003qcr.1_5'UTR	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1097					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTGGGTTGGGAAACTCATTGA	0.478												
KIAA1244	57221	broad.mit.edu	37	6	138601240	138601240	+	Silent	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:138601240A>C	uc003qhu.2	+	14	2400	c.2400A>C	c.(2398-2400)GGA>GGC	p.G800G		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	800					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACATGCTTGGAGAGGCTGGCT	0.572												
KIAA1244	57221	broad.mit.edu	37	6	138632618	138632618	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:138632618G>A	uc003qhu.2	+	25	4171	c.4171G>A	c.(4171-4173)GCC>ACC	p.A1391T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1391					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTGCCTCCCGGCCCTGGATTA	0.642												
SASH1	23328	broad.mit.edu	37	6	148865429	148865429	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:148865429C>T	uc003qme.1	+	18	3298	c.2823C>T	c.(2821-2823)CAC>CAT	p.H941H	SASH1_uc011eeb.1_Silent_p.H702H|SASH1_uc003qmf.1_Silent_p.H351H	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	941							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAGCTAAACACGGTTTAGCAA	0.557												
UST	10090	broad.mit.edu	37	6	149342593	149342593	+	Missense_Mutation	SNP	G	G	A	rs141035429		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:149342593G>A	uc003qmg.2	+	7	1209	c.913G>A	c.(913-915)GTG>ATG	p.V305M		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	305	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		CTTCAAGGGCGTGCTCAGTAT	0.463												
C6orf97	80129	broad.mit.edu	37	6	151869460	151869460	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:151869460A>G	uc003qol.2	+	5	699	c.610A>G	c.(610-612)AAT>GAT	p.N204D		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	204	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GCGCAAAGAAAATGAATTCGT	0.368												
NOX3	50508	broad.mit.edu	37	6	155776222	155776222	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:155776222C>T	uc003qqm.2	-	2	193	c.90G>A	c.(88-90)ACG>ACA	p.T30T		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	30	Helical; (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACCAGTAGAACGTGTCAATAA	0.328												
ARID1B	57492	broad.mit.edu	37	6	157522175	157522175	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:157522175G>T	uc003qqn.2	+	18	4545	c.4393G>T	c.(4393-4395)GGC>TGC	p.G1465C	ARID1B_uc003qqo.2_Missense_Mutation_p.G1425C|ARID1B_uc003qqp.2_Missense_Mutation_p.G1412C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1470	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGGCCCTGGCGGCCCTACACA	0.592												
ZDHHC14	79683	broad.mit.edu	37	6	157803268	157803268	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:157803268T>G	uc003qqt.2	+	1	712	c.215T>G	c.(214-216)CTG>CGG	p.L72R	ZDHHC14_uc003qqs.2_Missense_Mutation_p.L72R	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	72	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GTCCTCATCCTGGTCACTAGC	0.627												
SYNJ2	8871	broad.mit.edu	37	6	158449969	158449969	+	Silent	SNP	A	A	G	rs140060886		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:158449969A>G	uc003qqx.1	+	3	471	c.396A>G	c.(394-396)TCA>TCG	p.S132S	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Silent_p.S132S|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_Silent_p.S81S|SYNJ2_uc010kjo.1_Silent_p.S81S	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	132	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTATTTCTCATGGCCAAACG	0.542												
IGF2R	3482	broad.mit.edu	37	6	160412338	160412338	+	Missense_Mutation	SNP	G	G	A	rs8191704		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:160412338G>A	uc003qta.2	+	2	420	c.272G>A	c.(271-273)CGC>CAC	p.R91H		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	91	1.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTGAAGACACGCACTTATCAT	0.378												
LPA	4018	broad.mit.edu	37	6	161014990	161014990	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:161014990C>T	uc003qtl.2	-	23	3749	c.3629G>A	c.(3628-3630)GGT>GAT	p.G1210D		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3718	Kringle 33.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAGGTTGTACCCATTTGGATA	0.443												
PLG	5340	broad.mit.edu	37	6	161134156	161134156	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:161134156A>C	uc003qtm.3	+	5	609	c.546A>C	c.(544-546)GAA>GAC	p.E182D		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	182					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTGAGTGTGAAGGTCAGGAGT	0.428												
PLG	5340	broad.mit.edu	37	6	161159605	161159605	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:161159605C>T	uc003qtm.3	+	15	1901	c.1838C>T	c.(1837-1839)TCC>TTC	p.S613F		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	613	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCTTGATATCCCCAGAGTGG	0.373												
QKI	9444	broad.mit.edu	37	6	163956101	163956101	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:163956101G>A	uc003qui.2	+	4	1041	c.490G>A	c.(490-492)GCA>ACA	p.A164T	QKI_uc003que.2_Missense_Mutation_p.A164T|QKI_uc003quf.2_Missense_Mutation_p.A164T|QKI_uc003qug.2_Missense_Mutation_p.A164T|QKI_uc003quh.2_Missense_Mutation_p.A164T|QKI_uc003quj.2_Missense_Mutation_p.A164T	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	164					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TCAGAACAGAGCAGAAATCAA	0.378												
QKI	9444	broad.mit.edu	37	6	163984455	163984455	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:163984455C>G	uc003qui.2	+	6	1189	c.638C>G	c.(637-639)GCC>GGC	p.A213G	QKI_uc003que.2_Missense_Mutation_p.A213G|QKI_uc003quf.2_Missense_Mutation_p.A213G|QKI_uc003qug.2_Missense_Mutation_p.A213G|QKI_uc003quh.2_Intron|QKI_uc003quj.2_Intron	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	213					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ACTGTAGCAGCCCTTGCCTTT	0.483												
QKI	9444	broad.mit.edu	37	6	163987788	163987788	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:163987788C>T	uc003qui.2	+	7	1521	c.970C>T	c.(970-972)CGT>TGT	p.R324C	QKI_uc003que.2_3'UTR|QKI_uc003quf.2_3'UTR|QKI_uc003qug.2_3'UTR|QKI_uc003quh.2_3'UTR|QKI_uc003quj.2_Missense_Mutation_p.R316C	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	324	Nuclear localization signal (By similarity).				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCACGATATGCGTGTCCATCC	0.413												
T	6862	broad.mit.edu	37	6	166571818	166571818	+	Silent	SNP	C	C	T	rs140876874		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:166571818C>T	uc003quu.1	-	9	1786	c.1293G>A	c.(1291-1293)TCG>TCA	p.S431S	T_uc003qut.1_Silent_p.S432S|T_uc003quv.1_Silent_p.S373S	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	431					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGAAGGTGGCGACACAGGTG	0.612									Chordoma_Familial_Clustering_of			
RNASET2	8635	broad.mit.edu	37	6	167352465	167352465	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:167352465C>T	uc003qve.2	-	6	771	c.364G>A	c.(364-366)GCC>ACC	p.A122T	RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_Missense_Mutation_p.A30T|RNASET2_uc003qvg.2_Missense_Mutation_p.A59T|RNASET2_uc003qvi.1_Silent_p.A9A	NM_003730	NP_003721	O00584	RNT2_HUMAN	ribonuclease T2 precursor	122					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding				0		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		ACCTGGGCGGCGCAGGTCCCA	0.468												
SMOC2	64094	broad.mit.edu	37	6	168949813	168949813	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:168949813T>C	uc003qws.1	+	7	587	c.567T>C	c.(565-567)ATT>ATC	p.I189I	SMOC2_uc003qwr.1_Silent_p.I200I	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	189					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TCATAGATATTGCATCACGTT	0.398												
DLL1	28514	broad.mit.edu	37	6	170597466	170597466	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:170597466G>A	uc003qxm.2	-	4	1001	c.531C>T	c.(529-531)TTC>TTT	p.F177F	DLL1_uc011ehc.1_Silent_p.F177F	NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	177	Extracellular (Potential).|DSL.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CGTCACACACGAAGCGGTAGG	0.652												
SUN1	23353	broad.mit.edu	37	7	881705	881705	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:881705G>A	uc011jvp.1	+	4	468	c.389G>A	c.(388-390)CGA>CAA	p.R130Q	SUN1_uc010ksa.1_Missense_Mutation_p.R151Q|SUN1_uc003sje.1_Missense_Mutation_p.R130Q|SUN1_uc003sjf.2_Missense_Mutation_p.R80Q|SUN1_uc011jvq.1_Missense_Mutation_p.R130Q|SUN1_uc003sjg.2_5'Flank	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	130	Nuclear.|LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						GCTGTGACTCGACGGCCTCCT	0.557												
FTSJ2	29960	broad.mit.edu	37	7	2279097	2279097	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:2279097G>A	uc003slm.2	-	2	283	c.254C>T	c.(253-255)GCC>GTC	p.A85V	FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	85	S-adenosyl-L-methionine binding.				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CTGACTCCAGGCCCCAGGAGC	0.647												
C7orf27	221927	broad.mit.edu	37	7	2594050	2594050	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:2594050C>T	uc003smi.2	-	2	58	c.16G>A	c.(16-18)GCC>ACC	p.A6T	C7orf27_uc003smj.1_Missense_Mutation_p.A6T	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	6					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		AGCAGCTGGGCGCATTCTGGG	0.592												
ACTB	60	broad.mit.edu	37	7	5567738	5567738	+	Missense_Mutation	SNP	T	T	C	rs11546937		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:5567738T>C	uc003sos.3	-	4	917	c.881A>G	c.(880-882)TAC>TGC	p.Y294C	ACTB_uc003sor.3_Missense_Mutation_p.Y172C|ACTB_uc003sot.3_Missense_Mutation_p.Y294C|ACTB_uc003soq.3_Missense_Mutation_p.Y172C|ACTB_uc010ksy.2_Missense_Mutation_p.Y172C	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	294					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGTGTTGGCGTACAGGTCTTT	0.557												
PMS2	5395	broad.mit.edu	37	7	6037037	6037037	+	Silent	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:6037037A>C	uc003spl.2	-	7	810	c.723T>G	c.(721-723)CCT>CCG	p.P241P	PMS2_uc003spj.2_Silent_p.P135P|PMS2_uc003spk.2_Silent_p.P106P|PMS2_uc011jwl.1_Silent_p.P106P|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Silent_p.P241P|PMS2_uc010ktf.1_Silent_p.P241P	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	241					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GCTGAACAAAAGGAATGAGGC	0.383			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
CYTH3	9265	broad.mit.edu	37	7	6210912	6210912	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:6210912C>T	uc003spt.2	-	7	587	c.483G>A	c.(481-483)GAG>GAA	p.E161E	CYTH3_uc011jws.1_Silent_p.E76E	NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	161	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity				0						TCTTCTGCGCCTCCCCGGGCA	0.612												
KLHL7	55975	broad.mit.edu	37	7	23164385	23164385	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:23164385T>C	uc003svs.3	+	3	595	c.302T>C	c.(301-303)TTT>TCT	p.F101S	KLHL7_uc003svr.3_Missense_Mutation_p.F79S|KLHL7_uc011jys.1_Missense_Mutation_p.F25S|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.F53S|KLHL7_uc003svp.2_Missense_Mutation_p.F79S|KLHL7_uc003svq.2_Missense_Mutation_p.F101S|KLHL7_uc011jyu.1_Missense_Mutation_p.F79S	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	101	BTB.					Golgi apparatus|nucleolus|plasma membrane					0						CTGGTGGAATTTGCTTATACT	0.338												
TRA2A	29896	broad.mit.edu	37	7	23547109	23547109	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:23547109G>A	uc003swi.2	-	5	785	c.571C>T	c.(571-573)CGG>TGG	p.R191W	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R90W|TRA2A_uc011jzd.1_Missense_Mutation_p.R90W	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	191	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TAATCCACCCGAATTCTTCTA	0.423												
DFNA5	1687	broad.mit.edu	37	7	24738827	24738827	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:24738827T>G	uc010kus.1	-	10	1397	c.1309A>C	c.(1309-1311)ACT>CCT	p.T437P	DFNA5_uc003swz.2_Missense_Mutation_p.T273P|DFNA5_uc003sxa.1_Missense_Mutation_p.T437P|DFNA5_uc010kut.1_Missense_Mutation_p.T273P	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	437					sensory perception of sound					ovary(1)	1						TTCAGGGGAGTCAAGGTTGGG	0.408												
HOXA1	3198	broad.mit.edu	37	7	27135386	27135386	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:27135386C>T	uc003sye.2	-	1	240	c.146G>A	c.(145-147)GGC>GAC	p.G49D	HOXA1_uc003syd.2_Missense_Mutation_p.G49D|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	49						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						GCGGTCGTCGCCGCCGCAACT	0.537											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
INMT	11185	broad.mit.edu	37	7	30795381	30795381	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:30795381C>A	uc003tbs.1	+	3	722	c.706C>A	c.(706-708)CTA>ATA	p.L236I	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.L235I	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	236						cytoplasm	amine N-methyltransferase activity				0						TGAACAGCTCCTACACAGTCC	0.577												
RP9	6100	broad.mit.edu	37	7	33136929	33136929	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:33136929C>T	uc003tdm.2	-	4	377	c.359G>A	c.(358-360)TGC>TAC	p.C120Y		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9	120	PIM1-binding (By similarity).|CCHC-type.				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding				0			GBM - Glioblastoma multiforme(11;0.0403)			AAAGAAAGGGCATTCTTTGTC	0.378												
BBS9	27241	broad.mit.edu	37	7	33296948	33296948	+	Silent	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:33296948T>G	uc003tdn.1	+	6	1056	c.543T>G	c.(541-543)CCT>CCG	p.P181P	BBS9_uc003tdo.1_Silent_p.P181P|BBS9_uc003tdp.1_Silent_p.P181P|BBS9_uc003tdq.1_Silent_p.P181P|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Silent_p.P181P|BBS9_uc011kao.1_Silent_p.P59P	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	181					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)			TTCTTCTGCCTGGTCCTCTTG	0.438									Bardet-Biedl_syndrome			
BBS9	27241	broad.mit.edu	37	7	33397489	33397489	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:33397489T>C	uc003tdn.1	+	16	2088	c.1575T>C	c.(1573-1575)TGT>TGC	p.C525C	BBS9_uc003tdo.1_Silent_p.C490C|BBS9_uc003tdp.1_Silent_p.C520C|BBS9_uc003tdq.1_Silent_p.C485C|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.C49C|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Silent_p.C403C	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	525					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)			TTATCCAATGTAAATTTAGAC	0.333									Bardet-Biedl_syndrome			
NPSR1	387129	broad.mit.edu	37	7	34917721	34917721	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:34917721G>A	uc003tei.1	+	9	1187	c.1059G>A	c.(1057-1059)GCG>GCA	p.A353A	NPSR1_uc010kww.1_Silent_p.A342A|NPSR1_uc011kar.1_Silent_p.A287A	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	Error:Variant_position_missing_in_Q6W5P4_after_alignment						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	AGGAGGCTGCGCTAATGCTCT	0.532												
INHBA	3624	broad.mit.edu	37	7	41729889	41729889	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:41729889G>A	uc003thq.2	-	2	875	c.640C>T	c.(640-642)CGG>TGG	p.R214W	INHBA_uc003thr.2_Missense_Mutation_p.R214W	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	214					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						GTGCTCTTCCGAGCGTCTACT	0.592										TSP Lung(11;0.080)		
GLI3	2737	broad.mit.edu	37	7	42085063	42085063	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:42085063C>T	uc011kbh.1	-	6	837	c.746G>A	c.(745-747)AGC>AAC	p.S249N	GLI3_uc011kbg.1_Missense_Mutation_p.S190N	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	249					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TGCATAGGGGCTGCGCTGGCC	0.552									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
C7orf25	79020	broad.mit.edu	37	7	42950002	42950002	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:42950002G>A	uc003thw.2	-	2	962	c.498C>T	c.(496-498)ATC>ATT	p.I166I	C7orf25_uc010kxq.2_Silent_p.I166I|C7orf25_uc003thx.3_Silent_p.I224I|C7orf25_uc010kxr.2_Silent_p.I224I	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	166										skin(1)	1						AAAATGCAAAGATGATGTGAG	0.498												
C7orf44	55744	broad.mit.edu	37	7	43684886	43684886	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:43684886G>A	uc003tin.1	-	4	322	c.228C>T	c.(226-228)ATC>ATT	p.I76I	C7orf44_uc003til.2_RNA|C7orf44_uc003tii.2_RNA|C7orf44_uc003tij.2_RNA|C7orf44_uc010kxu.1_RNA|C7orf44_uc003tik.2_RNA|C7orf44_uc003tim.1_RNA|C7orf44_uc003tio.1_Silent_p.I76I|C7orf44_uc003tiq.1_Silent_p.I76I|C7orf44_uc003tip.1_Silent_p.I76I	NM_018224	NP_060694	Q9GZY4	CG044_HUMAN	hypothetical protein LOC55744	76						integral to membrane				ovary(1)	1						TTTCCCTGTCGATGAGCTTGA	0.532												
NPC1L1	29881	broad.mit.edu	37	7	44579262	44579262	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:44579262T>G	uc003tlb.2	-	2	790	c.734A>C	c.(733-735)GAG>GCG	p.E245A	NPC1L1_uc003tlc.2_Missense_Mutation_p.E245A|NPC1L1_uc011kbw.1_Missense_Mutation_p.E245A|NPC1L1_uc003tld.2_Missense_Mutation_p.E245A	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	245	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	ACCTTGGGACTCATTGCAACG	0.632												
NPC1L1	29881	broad.mit.edu	37	7	44579700	44579700	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:44579700A>G	uc003tlb.2	-	2	352	c.296T>C	c.(295-297)CTG>CCG	p.L99P	NPC1L1_uc003tlc.2_Missense_Mutation_p.L99P|NPC1L1_uc011kbw.1_Missense_Mutation_p.L99P|NPC1L1_uc003tld.2_Missense_Mutation_p.L99P	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	99	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	ACTCGCTTCCAGTGATACCAG	0.582												
TNS3	64759	broad.mit.edu	37	7	47408881	47408881	+	Silent	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:47408881G>T	uc003tnv.2	-	17	1729	c.1362C>A	c.(1360-1362)ACC>ACA	p.T454T	TNS3_uc003tnw.2_Silent_p.T454T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	454						focal adhesion	protein binding			ovary(4)	4						CCACGTGGCGGGTCCCACTGT	0.577												
ABCA13	154664	broad.mit.edu	37	7	48319362	48319362	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:48319362C>T	uc003toq.2	+	18	8596	c.8571C>T	c.(8569-8571)ACC>ACT	p.T2857T	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2857					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAGCAACCACCGGAAAGAATG	0.368												
COBL	23242	broad.mit.edu	37	7	51096683	51096683	+	Missense_Mutation	SNP	C	C	T	rs148062130		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:51096683C>T	uc003tpr.3	-	10	2295	c.2110G>A	c.(2110-2112)GGC>AGC	p.G704S	COBL_uc003tps.2_Missense_Mutation_p.G761S|COBL_uc011kcl.1_Missense_Mutation_p.G704S|COBL_uc003tpp.3_Missense_Mutation_p.G490S|COBL_uc003tpq.3_Missense_Mutation_p.G645S|COBL_uc003tpo.3_Missense_Mutation_p.G246S	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	704										skin(3)|ovary(2)	5	Glioma(55;0.08)					GTTGTGAGGCCGTGCTTAAGT	0.493												
POM121L12	285877	broad.mit.edu	37	7	53104026	53104026	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:53104026G>T	uc003tpz.2	+	1	678	c.662G>T	c.(661-663)AGC>ATC	p.S221I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	221											0						AAGCCCCTGAGCAAAAATGGA	0.632												
PHKG1	5260	broad.mit.edu	37	7	56148844	56148844	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:56148844C>T	uc003trz.1	-	10	1262	c.1067G>A	c.(1066-1068)GGC>GAC	p.G356D	PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Missense_Mutation_p.G250D|PHKG1_uc011kdb.1_Missense_Mutation_p.G388D|PHKG1_uc011kdc.1_Missense_Mutation_p.G347D|PHKG1_uc011kdd.1_Missense_Mutation_p.G302D	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	phosphorylase kinase gamma subunit 1	356	Calmodulin-binding (domain-C).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			large_intestine(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACCCAGTGGCCATAGATTCG	0.647												
AUTS2	26053	broad.mit.edu	37	7	70255700	70255700	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:70255700G>A	uc003tvw.3	+	19	4241	c.3498G>A	c.(3496-3498)CGG>CGA	p.R1166R	AUTS2_uc003tvx.3_Silent_p.R1142R|AUTS2_uc011keg.1_Silent_p.R618R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1166	His-rich.									ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGCACACGCGGCTCCACTCCG	0.682												
BAZ1B	9031	broad.mit.edu	37	7	72884801	72884801	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:72884801C>T	uc003tyc.2	-	8	2951	c.2606G>A	c.(2605-2607)CGC>CAC	p.R869H		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	869	Potential.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCAGCTTGGCGTTCCAGTTT	0.398												
MLXIPL	51085	broad.mit.edu	37	7	73009996	73009996	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:73009996G>A	uc003tyn.1	-	15	2329	c.2281C>T	c.(2281-2283)CGT>TGT	p.R761C	MLXIPL_uc003tyj.1_Missense_Mutation_p.R140C|MLXIPL_uc003tyk.1_Missense_Mutation_p.R740C|MLXIPL_uc003tyl.1_Missense_Mutation_p.R759C|MLXIPL_uc003tym.1_Missense_Mutation_p.R742C|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.R667C	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	761					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCAGCGTACGGGTTCGGACG	0.632												
RHBDD2	57414	broad.mit.edu	37	7	75517524	75517524	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:75517524A>G	uc003udw.1	+	4	1036	c.952A>G	c.(952-954)AGT>GGT	p.S318G	RHBDD2_uc003udv.1_Missense_Mutation_p.S177G	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	318						integral to membrane	serine-type endopeptidase activity				0						CACCTCCTCCAGTGTCTACCC	0.657												
HGF	3082	broad.mit.edu	37	7	81346622	81346622	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:81346622T>C	uc003uhl.2	-	11	1496	c.1331A>G	c.(1330-1332)GAT>GGT	p.D444G	HGF_uc003uhm.2_Missense_Mutation_p.D439G	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	444	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						AGCATCATCATCTGGATTTCG	0.448												
CACNA2D1	781	broad.mit.edu	37	7	81588629	81588629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:81588629G>A	uc003uhr.1	-	38	3377	c.3121C>T	c.(3121-3123)CGA>TGA	p.R1041*	CACNA2D1_uc011kgy.1_Nonsense_Mutation_p.R253*	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	1053	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGCCCTTTTCGGTATCTGGGT	0.358												
SEMA3E	9723	broad.mit.edu	37	7	83277848	83277848	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:83277848G>A	uc003uhy.1	-	1	477	c.11C>T	c.(10-12)GCG>GTG	p.A4V		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	4					axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				AATGTGCCCCGCGGATGCCAT	0.567												
ABCB4	5244	broad.mit.edu	37	7	87073078	87073078	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:87073078A>G	uc003uiv.1	-	11	1207	c.1131T>C	c.(1129-1131)ATT>ATC	p.I377I	ABCB4_uc003uiw.1_Silent_p.I377I|ABCB4_uc003uix.1_Silent_p.I377I	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	377	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AAAAACTGTCAATTTTAGGAT	0.343												
ZNF804B	219578	broad.mit.edu	37	7	88963047	88963047	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:88963047T>C	uc011khi.1	+	4	1289	c.751T>C	c.(751-753)TCA>CCA	p.S251P		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	251						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGTAACAAGTCACCCATTTA	0.348										HNSCC(36;0.09)		
ZNF804B	219578	broad.mit.edu	37	7	88964676	88964676	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:88964676G>T	uc011khi.1	+	4	2918	c.2380G>T	c.(2380-2382)GAA>TAA	p.E794*		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	794						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTTAAAAATGAAAAATACTC	0.358										HNSCC(36;0.09)		
ANKIB1	54467	broad.mit.edu	37	7	92028112	92028112	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:92028112A>C	uc003ulw.2	+	20	3495	c.3119A>C	c.(3118-3120)AAT>ACT	p.N1040T	ANKIB1_uc010lew.1_Missense_Mutation_p.N309T	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	1040							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATAGAAGAAAATCCTTTGGAA	0.478												
TECPR1	25851	broad.mit.edu	37	7	97861206	97861206	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:97861206G>A	uc003upg.2	-	13	2089	c.1884C>T	c.(1882-1884)GAC>GAT	p.D628D	TECPR1_uc003uph.1_Silent_p.D558D	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	628	PH.					integral to membrane	protein binding			pancreas(1)	1						CCAAGCGCACGTCCACCCACT	0.657												
BAIAP2L1	55971	broad.mit.edu	37	7	97944910	97944910	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:97944910A>G	uc003upj.2	-	7	764	c.501T>C	c.(499-501)GTT>GTC	p.V167V		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	167	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GACGAGAAGTAACGGTCTCCA	0.383												
TMEM130	222865	broad.mit.edu	37	7	98453803	98453803	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:98453803G>A	uc003upo.2	-	4	744	c.555C>T	c.(553-555)ACC>ACT	p.T185T	TMEM130_uc011kiq.1_Silent_p.T166T|TMEM130_uc011kir.1_Silent_p.T185T|TMEM130_uc003upn.2_Silent_p.T83T	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform a	185	Extracellular (Potential).|PKD.					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCACCATCTGGGTCCTGTTAG	0.532												
TRRAP	8295	broad.mit.edu	37	7	98609946	98609946	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:98609946C>T	uc003upp.2	+	72	11757	c.11548C>T	c.(11548-11550)CGC>TGC	p.R3850C	TRRAP_uc011kis.1_Missense_Mutation_p.R3821C|TRRAP_uc003upr.2_Missense_Mutation_p.R3556C|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3850	FATC.				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)			CAATCTGTGCCGCATGGACCC	0.662												
ZNF394	84124	broad.mit.edu	37	7	99091496	99091496	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:99091496C>A	uc003uqs.2	-	3	1503	c.1342G>T	c.(1342-1344)GGG>TGG	p.G448W	ZNF394_uc003uqt.2_Missense_Mutation_p.G241W	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	448	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	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)					CAGGTTTCCCCGCATTCCTCA	0.433												
SPDYE3	441272	broad.mit.edu	37	7	99917282	99917282	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:99917282C>T	uc003uug.1	+	4	550	c.310C>T	c.(310-312)CGC>TGC	p.R104C	uc011kjm.1_5'Flank	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	speedy homolog E3	481											0						CATACCCTTGCGCCCTAAGCA	0.537												
GNB2	2783	broad.mit.edu	37	7	100276081	100276081	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:100276081G>A	uc003uwb.2	+	9	1033	c.760G>A	c.(760-762)GAC>AAC	p.D254N	GNB2_uc003uwc.2_Missense_Mutation_p.D210N|GNB2_uc010lhd.2_Missense_Mutation_p.D210N|GNB2_uc010lhe.2_Missense_Mutation_p.D210N|GNB2_uc003uwd.2_Missense_Mutation_p.D154N|GNB2_uc010lhf.2_Missense_Mutation_p.D154N|GNB2_uc003uwe.2_Missense_Mutation_p.D254N|GNB2_uc003uwf.2_Missense_Mutation_p.D154N	NM_005273	NP_005264	P62879	GBB2_HUMAN	guanine nucleotide-binding protein, beta-2	254	WD 5.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			ovary(2)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCGCCTCTTCGACCTGCGGGC	0.637												
ZAN	7455	broad.mit.edu	37	7	100390033	100390033	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:100390033C>T	uc003uwj.2	+	43	7884	c.7719C>T	c.(7717-7719)TGC>TGT	p.C2573C	ZAN_uc003uwk.2_Silent_p.C2573C|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.A566V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2573	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)			CCAGGCACTGCGTGCTGGATC	0.632												
TRIP6	7205	broad.mit.edu	37	7	100469273	100469273	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:100469273C>T	uc003uww.2	+	7	1278	c.1108C>T	c.(1108-1110)CGC>TGC	p.R370C		NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	370	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTGTGTCACCGCGGCCTCGA	0.617												
PLOD3	8985	broad.mit.edu	37	7	100853896	100853896	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:100853896G>A	uc003uyd.2	-	13	1873	c.1417C>T	c.(1417-1419)CGG>TGG	p.R473W	PLOD3_uc010lhs.2_Missense_Mutation_p.R38W	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	473					protein modification process	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGCTCCATCCGCAGGGTATCA	0.622												
ARMC10	83787	broad.mit.edu	37	7	102738805	102738805	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:102738805A>G	uc003vaw.1	+	7	1229	c.837A>G	c.(835-837)CGA>CGG	p.R279R	ARMC10_uc003vay.1_Silent_p.R220R|ARMC10_uc003vax.1_Silent_p.R244R|ARMC10_uc003vbb.1_Silent_p.R185R|ARMC10_uc011kli.1_Silent_p.R220R|ARMC10_uc010lis.1_Silent_p.R161R|ARMC10_uc003vba.1_RNA|ARMC10_uc003vaz.1_Silent_p.R157R	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	SVH protein isoform a	279					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			ovary(1)	1						TTCTTCTTCGAGTACTTACGC	0.348												
PIK3CG	5294	broad.mit.edu	37	7	106508673	106508673	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:106508673G>A	uc003vdv.3	+	2	752	c.667G>A	c.(667-669)GTC>ATC	p.V223I	PIK3CG_uc003vdu.2_Missense_Mutation_p.V223I|PIK3CG_uc003vdw.2_Missense_Mutation_p.V223I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	223					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						CATCTTCATCGTCATTCACCG	0.592												
NRCAM	4897	broad.mit.edu	37	7	107822325	107822325	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:107822325C>T	uc003vfb.2	-	24	3058	c.2587G>A	c.(2587-2589)GAG>AAG	p.E863K	NRCAM_uc003vfc.2_Missense_Mutation_p.E847K|NRCAM_uc011kmk.1_Missense_Mutation_p.E858K|NRCAM_uc003vfd.2_Missense_Mutation_p.E839K|NRCAM_uc003vfe.2_Missense_Mutation_p.E839K	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	863	Fibronectin type-III 3.|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						CAGTGCACCTCGGCTAAGGTA	0.493												
NRCAM	4897	broad.mit.edu	37	7	107834488	107834488	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:107834488C>A	uc003vfb.2	-	17	2229	c.1758G>T	c.(1756-1758)AGG>AGT	p.R586S	NRCAM_uc003vfc.2_Missense_Mutation_p.R580S|NRCAM_uc011kmk.1_Missense_Mutation_p.R581S|NRCAM_uc003vfd.2_Missense_Mutation_p.R562S|NRCAM_uc003vfe.2_Missense_Mutation_p.R562S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	586	Ig-like 6.|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						TGGGCAGTTCCCTGTTGTCCT	0.403												
DOCK4	9732	broad.mit.edu	37	7	111372303	111372303	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:111372303A>G	uc003vfx.2	-	51	5702	c.5433T>C	c.(5431-5433)CCT>CCC	p.P1811P	DOCK4_uc011kml.1_Silent_p.P692P|DOCK4_uc011kmm.1_Silent_p.P680P|DOCK4_uc003vfw.2_Silent_p.P1223P|DOCK4_uc003vfy.2_Silent_p.P1856P|DOCK4_uc003vfv.2_Silent_p.P124P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1811	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				ATCGCCCGGCAGGCGAGGGGG	0.463												
WNT2	7472	broad.mit.edu	37	7	116955281	116955281	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:116955281G>A	uc003viz.2	-	3	732	c.432C>T	c.(430-432)AGC>AGT	p.S144S	WNT2_uc003vja.2_Silent_p.S48S	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	144					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGTCCTTGGCGCTTCCCATCT	0.453												
SPAM1	6677	broad.mit.edu	37	7	123593853	123593853	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:123593853G>A	uc003vld.2	+	4	631	c.229G>A	c.(229-231)GGA>AGA	p.G77R	SPAM1_uc003vle.2_Missense_Mutation_p.G77R|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.G77R|SPAM1_uc010lku.2_Missense_Mutation_p.G77R	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	77					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	CTCTTTCATAGGAAGCCCCCG	0.423												
ZNF800	168850	broad.mit.edu	37	7	127014342	127014342	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:127014342A>G	uc003vlx.1	-	5	1311	c.1048T>C	c.(1048-1050)TCA>CCA	p.S350P	ZNF800_uc003vlw.1_Missense_Mutation_p.S253P|ZNF800_uc003vly.1_Missense_Mutation_p.S350P|ZNF800_uc010lla.2_Missense_Mutation_p.S350P	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCAGCCTTTGAAGAAGACTTT	0.343												
FSCN3	29999	broad.mit.edu	37	7	127236393	127236393	+	Missense_Mutation	SNP	C	C	T	rs148605578		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:127236393C>T	uc003vmd.1	+	3	1072	c.853C>T	c.(853-855)CGT>TGT	p.R285C	FSCN3_uc011koh.1_Missense_Mutation_p.R151C|FSCN3_uc010llc.1_Missense_Mutation_p.R285C	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	285						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						TGGTGAGGTGCGTGCTGCTTC	0.552												
RBM28	55131	broad.mit.edu	37	7	127955004	127955004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:127955004G>A	uc003vmp.2	-	17	1973	c.1858C>T	c.(1858-1860)CAA>TAA	p.Q620*	RBM28_uc003vmo.2_Nonsense_Mutation_p.Q162*|RBM28_uc011koj.1_Nonsense_Mutation_p.Q479*	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	620					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						GCCTTCTGTTGCTGGTCTTTT	0.517												
IRF5	3663	broad.mit.edu	37	7	128588011	128588011	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:128588011G>A	uc003vog.2	+	8	1107	c.986G>A	c.(985-987)CGC>CAC	p.R329H	IRF5_uc003voh.2_Missense_Mutation_p.R313H|IRF5_uc010llt.2_Missense_Mutation_p.R237H|IRF5_uc003voi.2_Missense_Mutation_p.R313H|IRF5_uc003voj.3_Missense_Mutation_p.R313H|IRF5_uc010llw.1_3'UTR	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	323					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GTCCTGGACCGCGGGCTCATC	0.617												
SMO	6608	broad.mit.edu	37	7	128845469	128845469	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:128845469T>C	uc003vor.2	+	4	1046	c.766T>C	c.(766-768)TGG>CGG	p.W256R	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	256	Cytoplasmic (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						CGTGGCTGACTGGCGGAACTC	0.537			Mis		skin basal cell 							
KLHDC10	23008	broad.mit.edu	37	7	129770479	129770479	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:129770479C>T	uc003vpj.1	+	10	1357	c.1222C>T	c.(1222-1224)CTG>TTG	p.L408L	KLHDC10_uc003vpk.1_Silent_p.L379L|KLHDC10_uc010lmb.1_Silent_p.L305L	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	kelch domain containing 10	408	Kelch 6.										0						CCTGCTGGAACTGGCATGGGA	0.512												
PODXL	5420	broad.mit.edu	37	7	131195812	131195812	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:131195812T>C	uc003vqw.3	-	2	739	c.481A>G	c.(481-483)AAA>GAA	p.K161E	PODXL_uc003vqx.3_Missense_Mutation_p.K161E	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	161	Thr-rich.|Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					TGGCTGCTTTTCCCCCCAGAG	0.527												
PLXNA4	91584	broad.mit.edu	37	7	131848964	131848964	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:131848964G>A	uc003vra.3	-	24	4666	c.4437C>T	c.(4435-4437)GGC>GGT	p.G1479G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1479	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AGCGGGCCTCGCCCGTGATGG	0.592												
PLXNA4	91584	broad.mit.edu	37	7	132192606	132192606	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:132192606G>T	uc003vra.3	-	2	1076	c.847C>A	c.(847-849)CTT>ATT	p.L283I	PLXNA4_uc003vrc.2_Missense_Mutation_p.L283I|PLXNA4_uc003vrb.2_Missense_Mutation_p.L283I	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	283	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TCCTTGCAAAGCCTCACGAGC	0.562												
EXOC4	60412	broad.mit.edu	37	7	132973835	132973835	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:132973835G>A	uc003vrk.2	+	3	471	c.436G>A	c.(436-438)GCC>ACC	p.A146T	EXOC4_uc011kpo.1_Missense_Mutation_p.A45T|EXOC4_uc003vri.2_Missense_Mutation_p.A146T|EXOC4_uc003vrj.2_Missense_Mutation_p.A146T	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	146					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				ACAGTGCATGGCCAGCAAGCA	0.418												
EXOC4	60412	broad.mit.edu	37	7	133164813	133164813	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:133164813G>A	uc003vrk.2	+	9	1373	c.1338G>A	c.(1336-1338)TCG>TCA	p.S446S	EXOC4_uc011kpo.1_Silent_p.S345S|EXOC4_uc003vri.2_Silent_p.S446S|EXOC4_uc003vrj.2_Silent_p.S446S	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	446					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)				GGTTCGAATCGTCCTCCCATG	0.488												
CNOT4	4850	broad.mit.edu	37	7	135047807	135047807	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:135047807C>T	uc011kpy.1	-	11	2064	c.1972G>A	c.(1972-1974)GCC>ACC	p.A658T	CNOT4_uc003vss.2_Missense_Mutation_p.A584T|CNOT4_uc011kpz.1_Missense_Mutation_p.A655T|CNOT4_uc003vst.2_Missense_Mutation_p.A587T	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	322					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						CTGAAGGGGGCGCTGTGGTGG	0.587												
MGAM	8972	broad.mit.edu	37	7	141795515	141795515	+	Splice_Site	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:141795515T>C	uc003vwy.2	+	41	4973	c.4919_splice	c.e41+2	p.E1640_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTCCATGAGTGAGTGTCCAG	0.473												
SSPO	23145	broad.mit.edu	37	7	149508775	149508775	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:149508775G>A	uc010lpk.2	+	68	9514	c.9514G>A	c.(9514-9516)GCC>ACC	p.A3172T		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3172					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGCTCATCGCCAACTGCAG	0.493												
KCNH2	3757	broad.mit.edu	37	7	150647278	150647278	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:150647278G>A	uc003wic.2	-	9	2389	c.2376C>T	c.(2374-2376)GGC>GGT	p.G792G	KCNH2_uc003wib.2_Silent_p.G452G|KCNH2_uc011kux.1_Silent_p.G696G|KCNH2_uc003wid.2_Silent_p.G452G|KCNH2_uc003wie.2_Silent_p.G792G	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	792	Cytoplasmic (Potential).|cNMP.				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)	CGACGACGTCGCCCCGCAGGA	0.637												
KCNH2	3757	broad.mit.edu	37	7	150671835	150671835	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:150671835C>T	uc003wic.2	-	2	284	c.271G>A	c.(271-273)GAG>AAG	p.E91K	KCNH2_uc003wie.2_Missense_Mutation_p.E91K	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	91	Cytoplasmic (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)	ACTTTGCGCTCCTCGGCGCCC	0.493												
NOS3	4846	broad.mit.edu	37	7	150696110	150696110	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:150696110A>C	uc003wif.2	+	8	1189	c.893A>C	c.(892-894)GAT>GCT	p.D298A	NOS3_uc011kuy.1_Missense_Mutation_p.D92A|NOS3_uc011kuz.1_Missense_Mutation_p.D298A|NOS3_uc011kva.1_Missense_Mutation_p.D298A|NOS3_uc011kvb.1_Missense_Mutation_p.D298A	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	298	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCCCCAGATGATCCCCCAGAA	0.657												
CDK5	1020	broad.mit.edu	37	7	150752436	150752436	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:150752436G>A	uc003wir.1	-	8	569	c.508C>T	c.(508-510)CCG>TCG	p.P170S	CDK5_uc003wis.1_Missense_Mutation_p.P138S	NM_004935	NP_004926	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5 isoform 1	170	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			lung(1)|central_nervous_system(1)	2		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		AGGACATCCGGTGGGCGGTAC	0.612												
AGAP3	116988	broad.mit.edu	37	7	150814817	150814817	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:150814817G>A	uc003wjg.1	+	5	662	c.659G>A	c.(658-660)AGC>AAC	p.S220N	AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Missense_Mutation_p.S220N|AGAP3_uc010lpy.1_Missense_Mutation_p.S220N|AGAP3_uc003wjh.1_Missense_Mutation_p.S400N	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	184	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						CGTCTCTGCAGCTTCCGCAAC	0.607												
UBE3C	9690	broad.mit.edu	37	7	157041136	157041136	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:157041136C>T	uc010lqs.2	+	19	2868	c.2556C>T	c.(2554-2556)GCC>GCT	p.A852A	UBE3C_uc003wni.3_Silent_p.A215A	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	852	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAACCAGTGCCGACGTGGACA	0.502												
VIPR2	7434	broad.mit.edu	37	7	158935152	158935152	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:158935152G>A	uc003woh.2	-	2	323	c.137C>T	c.(136-138)ACA>ATA	p.T46I	VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	46	Extracellular (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GTGTTTTTCTGTTTGAGACCT	0.483												
CSMD1	64478	broad.mit.edu	37	8	3000078	3000078	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:3000078G>A	uc011kwk.1	-	41	6543	c.6153C>T	c.(6151-6153)CCC>CCT	p.P2051P	CSMD1_uc011kwj.1_Silent_p.P1443P|CSMD1_uc010lrg.2_Silent_p.P119P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2051	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)		GCAGGGCCGCGGGGAGATCCG	0.463												
CSMD1	64478	broad.mit.edu	37	8	3045475	3045475	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:3045475T>C	uc011kwk.1	-	36	5929	c.5539A>G	c.(5539-5541)AGT>GGT	p.S1847G	CSMD1_uc011kwj.1_Missense_Mutation_p.S1239G|CSMD1_uc003wqe.2_Missense_Mutation_p.S1003G|CSMD1_uc010lrg.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1847	Extracellular (Potential).|CUB 11.			IQVISFATEQNWDSL -> DPSDQFCHGAELGLPF (in Ref. 1; AAK73475/AAG52948).		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)		GTGGCAAAACTGATCACTTGG	0.428												
NEIL2	252969	broad.mit.edu	37	8	11643587	11643587	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:11643587T>C	uc003wug.2	+	5	1479	c.804T>C	c.(802-804)AGT>AGC	p.S268S	NEIL2_uc003wue.2_Silent_p.S268S|NEIL2_uc003wuf.2_Silent_p.S207S|NEIL2_uc011kxd.1_Silent_p.S152S	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	268					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)		TGGAGTTCAGTACAGCCTGGC	0.587								BER_DNA_glycosylases				
SLC7A2	6542	broad.mit.edu	37	8	17409424	17409424	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:17409424G>A	uc011kyc.1	+	6	1153	c.984G>A	c.(982-984)GCG>GCA	p.A328A	SLC7A2_uc011kyd.1_Silent_p.A368A|SLC7A2_uc011kye.1_Silent_p.A368A|SLC7A2_uc011kyf.1_Silent_p.A328A	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	328	Extracellular (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCCTGTAGCGTTTGAATATG	0.502												
FGL1	2267	broad.mit.edu	37	8	17726129	17726129	+	Missense_Mutation	SNP	G	G	A	rs146098986		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:17726129G>A	uc003wxx.2	-	8	1031	c.707C>T	c.(706-708)ACG>ATG	p.T236M	FGL1_uc003wxy.2_Missense_Mutation_p.T236M|FGL1_uc003wxz.2_Missense_Mutation_p.T235M|FGL1_uc003wya.2_Missense_Mutation_p.T236M|FGL1_uc003wyb.2_Missense_Mutation_p.T236M|FGL1_uc003wyc.2_Missense_Mutation_p.T236M|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Missense_Mutation_p.T286M|FGL1_uc003wyf.2_Missense_Mutation_p.T206M	NM_201553	NP_963847	Q08830	FGL1_HUMAN	fibrinogen-like 1 precursor	236	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding				0				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TCTGTCCCACGTGCTGAATTT	0.453												
NAT2	10	broad.mit.edu	37	8	18257712	18257712	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:18257712T>C	uc003wyw.1	+	2	306	c.199T>C	c.(199-201)TGG>CGG	p.W67R		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	67					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		CCGGGGTGGGTGGTGTCTCCA	0.463									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
ATP6V1B2	526	broad.mit.edu	37	8	20070374	20070374	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:20070374T>C	uc003wzp.2	+	9	1099	c.885T>C	c.(883-885)GTT>GTC	p.V295V		NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	295					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		ATGTATTGGTTATTCTAACAG	0.393												
REEP4	80346	broad.mit.edu	37	8	21997010	21997010	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:21997010C>T	uc003xau.1	-	5	789	c.336G>A	c.(334-336)GAG>GAA	p.E112E	REEP4_uc010ltt.1_Silent_p.E112E|REEP4_uc011kyz.1_Silent_p.E112E	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	112						integral to membrane				skin(1)	1				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		CGTAGCTGCGCTCCTTGGCCT	0.642												
PIWIL2	55124	broad.mit.edu	37	8	22140652	22140652	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:22140652G>A	uc003xbn.2	+	5	679	c.531G>A	c.(529-531)CCG>CCA	p.P177P	PIWIL2_uc011kzf.1_Silent_p.P177P|PIWIL2_uc010ltv.2_Silent_p.P177P	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	177					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TCAGCACACCGTCCCGGGGTC	0.577												
SORBS3	10174	broad.mit.edu	37	8	22415705	22415705	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:22415705G>A	uc003xbv.2	+	5	818	c.478G>A	c.(478-480)GAC>AAC	p.D160N	SORBS3_uc011kzk.1_RNA	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	160	SoHo.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GAAAATGCCAGGTAAGATACC	0.547												
PDLIM2	64236	broad.mit.edu	37	8	22452098	22452098	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:22452098T>C	uc003xcc.1	+	10	1171	c.1037T>C	c.(1036-1038)ATG>ACG	p.M346T		NM_176871	NP_789847	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 1	Error:Variant_position_missing_in_Q96JY6_after_alignment						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		TTGGAGGGGATGGTGGAGGGC	0.552												
EBF2	64641	broad.mit.edu	37	8	25718687	25718687	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:25718687C>T	uc003xes.1	-	13	1237	c.1220G>A	c.(1219-1221)AGG>AAG	p.R407K	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	407					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCTGGGATTCCTGGGGACGCT	0.522												
SCARA3	51435	broad.mit.edu	37	8	27516154	27516154	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:27516154C>T	uc003xga.1	+	5	608	c.467C>T	c.(466-468)GCC>GTC	p.A156V	SCARA3_uc003xgb.1_Missense_Mutation_p.A156V	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	156	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)		ACCTTACAGGCCCAGGAGGTG	0.597												
PURG	29942	broad.mit.edu	37	8	30889719	30889719	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:30889719G>A	uc003xin.2	-	1	599	c.580C>T	c.(580-582)CGC>TGC	p.R194C	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.R194C	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	194	By similarity.					nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CGTAGGAAGCGACCCCGCTGA	0.488												
NRG1	3084	broad.mit.edu	37	8	32617802	32617802	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:32617802C>T	uc003xiv.2	+	11	1663	c.1146C>T	c.(1144-1146)AGC>AGT	p.S382S	NRG1_uc011lbf.1_Silent_p.S379S|NRG1_uc010lvo.2_Silent_p.S379S|NRG1_uc003xiu.2_Silent_p.S387S|NRG1_uc003xiw.2_Silent_p.S379S|NRG1_uc003xit.2_Silent_p.S382S|NRG1_uc010lvr.2_Silent_p.S124S|NRG1_uc010lvs.2_Silent_p.S124S|NRG1_uc010lvp.2_Silent_p.S336S|NRG1_uc010lvq.2_Silent_p.S319S|NRG1_uc011lbg.1_Silent_p.S228S|NRG1_uc011lbh.1_Silent_p.S225S|NRG1_uc003xja.2_Silent_p.S193S	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	382	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTAGGCACAGCAGCCCAACTG	0.542												
ERLIN2	11160	broad.mit.edu	37	8	37597886	37597886	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:37597886C>T	uc003xke.3	+	3	226	c.111C>T	c.(109-111)GGC>GGT	p.G37G	uc003xkb.1_5'Flank|ERLIN2_uc003xkc.3_Silent_p.G37G|ERLIN2_uc003xkd.2_Silent_p.G37G|ERLIN2_uc003xkf.3_Silent_p.G37G|ERLIN2_uc003xkg.2_Silent_p.G37G	NM_007175	NP_009106	O94905	ERLN2_HUMAN	ER lipid raft associated 2 isoform 1	37	Lumenal (Potential).				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding				0		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCTGCAGAGGCGGTGCCCTGC	0.512												
GPR124	25960	broad.mit.edu	37	8	37688981	37688981	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:37688981G>A	uc003xkj.2	+	8	1336	c.973G>A	c.(973-975)GAG>AAG	p.E325K	GPR124_uc010lvy.2_Missense_Mutation_p.E325K	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	325	Extracellular (Potential).|Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCCTCAGGCGAGTGGGAGTG	0.662												
TM2D2	83877	broad.mit.edu	37	8	38851132	38851132	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:38851132G>A	uc003xmk.2	-	3	446	c.363C>T	c.(361-363)TGC>TGT	p.C121C	TM2D2_uc003xml.2_Silent_p.C78C|TM2D2_uc003xmm.2_Silent_p.C78C|TM2D2_uc003xmn.2_Silent_p.C78C	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2 isoform a	121						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)			CTAAGGCATGGCACTGGACTG	0.453												
IKBKB	3551	broad.mit.edu	37	8	42178357	42178357	+	Silent	SNP	C	C	T	rs148836092		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:42178357C>T	uc003xow.1	+	16	1860	c.1683C>T	c.(1681-1683)GAC>GAT	p.D561D	IKBKB_uc010lxh.1_3'UTR|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.D338D|IKBKB_uc003xox.1_Silent_p.D282D|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.D559D|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.D502D	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	561					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GAACGCTGGACGACCTGTGAG	0.617												
NPBWR1	2831	broad.mit.edu	37	8	53852765	53852765	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:53852765C>T	uc011ldu.1	+	1	298	c.298C>T	c.(298-300)CGG>TGG	p.R100W		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	100	Extracellular (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CTTCCTGCTGCGGCAGTGGCC	0.597												
PENK	5179	broad.mit.edu	37	8	57358398	57358398	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:57358398G>A	uc003xsz.2	-	1	196	c.115C>T	c.(115-117)CGC>TGC	p.R39C	uc003xtb.1_RNA|PENK_uc003xta.3_Missense_Mutation_p.R39C|PENK_uc010lym.2_Missense_Mutation_p.R39C	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	39					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCGGCCGGGCGCACTAGGCGG	0.657												
PENK	5179	broad.mit.edu	37	8	57358505	57358505	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:57358505C>T	uc003xsz.2	-	1	89	c.8G>A	c.(7-9)CGG>CAG	p.R3Q	uc003xtb.1_RNA|PENK_uc003xta.3_Missense_Mutation_p.R3Q|PENK_uc010lym.2_Missense_Mutation_p.R3Q	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	3					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TGTCAGGAACCGCGCCATGGA	0.697												
CYP7A1	1581	broad.mit.edu	37	8	59409729	59409729	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:59409729A>C	uc003xtm.3	-	3	405	c.342T>G	c.(340-342)ATT>ATG	p.I114M		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	114					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCATCGGGTCAATGCTTCTGT	0.408									Neonatal_Giant_Cell_Hepatitis			
ARMC1	55156	broad.mit.edu	37	8	66534566	66534566	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:66534566G>A	uc003xvl.2	-	3	442	c.207C>T	c.(205-207)TGC>TGT	p.C69C	ARMC1_uc011leo.1_Missense_Mutation_p.P31S	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	69	ARM.				metal ion transport		metal ion binding			skin(1)	1			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			TGTTTGCACGGCATTCTGCCA	0.353												
VCPIP1	80124	broad.mit.edu	37	8	67547088	67547088	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:67547088C>T	uc003xwn.2	-	3	3576	c.3317G>A	c.(3316-3318)CGA>CAA	p.R1106Q		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	1106					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CAATTTTTTTCGCTGGGCCTC	0.453												
CPA6	57094	broad.mit.edu	37	8	68396023	68396023	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:68396023T>C	uc003xxq.3	-	8	1074	c.818A>G	c.(817-819)AAC>AGC	p.N273S	CPA6_uc003xxr.3_Missense_Mutation_p.N125S|CPA6_uc003xxs.2_Missense_Mutation_p.N273S	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	273					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CACTTTCCAGTTTCTATTGGC	0.443												
PREX2	80243	broad.mit.edu	37	8	68942753	68942753	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:68942753C>T	uc003xxv.1	+	6	592	c.565C>T	c.(565-567)CGG>TGG	p.R189W	PREX2_uc003xxu.1_Missense_Mutation_p.R189W|PREX2_uc011lez.1_Missense_Mutation_p.R124W	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	189	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						GCGGACTCCACGGAAACACAG	0.463												
KCNB2	9312	broad.mit.edu	37	8	73849351	73849351	+	Silent	SNP	C	C	T	rs141923254		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:73849351C>T	uc003xzb.2	+	3	2349	c.1761C>T	c.(1759-1761)GCC>GCT	p.A587A		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	587	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			AGCAGCTGGCCGTGGCACAGA	0.547												
PI15	51050	broad.mit.edu	37	8	75737662	75737662	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:75737662C>T	uc003yal.2	+	2	357	c.178C>T	c.(178-180)CGC>TGC	p.R60C	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.R60C	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	60						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CAGGCGGAAGCGCTACATTTC	0.448												
HNF4G	3174	broad.mit.edu	37	8	76471161	76471161	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:76471161C>T	uc003yaq.2	+	9	1141	c.871C>T	c.(871-873)CTC>TTC	p.L291F	HNF4G_uc003yar.2_Missense_Mutation_p.L328F	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	291					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTTGCTTCTGCTCCTGCCCAC	0.433												
ZFHX4	79776	broad.mit.edu	37	8	77765551	77765551	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:77765551C>A	uc003yav.2	+	10	6646	c.6259C>A	c.(6259-6261)CCA>ACA	p.P2087T	ZFHX4_uc003yau.1_Missense_Mutation_p.P2132T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2087T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2087	Homeobox 1.					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)			GTTCAAACGCCCACGGACAAG	0.453										HNSCC(33;0.089)		
KIAA1429	25962	broad.mit.edu	37	8	95502202	95502202	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:95502202C>T	uc003ygo.1	-	23	5262	c.5249G>A	c.(5248-5250)GGC>GAC	p.G1750D	KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	1750					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGGAAGAGGGCCTCTGTTAAA	0.448												
GDF6	392255	broad.mit.edu	37	8	97156813	97156813	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:97156813A>G	uc003yhp.2	-	2	1446	c.1346T>C	c.(1345-1347)GTG>GCG	p.V449A		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	449					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GCACGACTCCACCACCATGTC	0.622												
MTERFD1	51001	broad.mit.edu	37	8	97270799	97270799	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:97270799G>A	uc003yhs.1	-	2	198	c.120C>T	c.(118-120)GGC>GGT	p.G40G	MTERFD1_uc003yhr.1_5'Flank|MTERFD1_uc010mbd.1_Silent_p.G40G	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	MTERF domain containing 1 precursor	40					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			ovary(1)	1	Breast(36;5.16e-05)					GAGCAGAAAAGCCATGTAACA	0.423												
VPS13B	157680	broad.mit.edu	37	8	100866205	100866205	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:100866205G>A	uc003yiv.2	+	56	10774	c.10663G>A	c.(10663-10665)GCT>ACT	p.A3555T	VPS13B_uc003yiw.2_Missense_Mutation_p.A3530T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3555					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)			CAGCAGGTTGGCTGGTCACTC	0.488												
UBR5	51366	broad.mit.edu	37	8	103297393	103297393	+	Silent	SNP	C	C	T	rs145137858	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:103297393C>T	uc003ykr.1	-	40	5691	c.5658G>A	c.(5656-5658)GCG>GCA	p.A1886A	UBR5_uc003yks.1_Silent_p.A1886A	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1886					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)			CTTCTTCTCGCGCAGTCATCC	0.403												
TM7SF4	81501	broad.mit.edu	37	8	105361783	105361783	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:105361783G>T	uc003ylx.1	+	2	1052	c.1003G>T	c.(1003-1005)GAG>TAG	p.E335*		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	335					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCAGGGTTTGAGGTTCACTT	0.363												
DPYS	1807	broad.mit.edu	37	8	105459576	105459576	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:105459576C>T	uc003yly.3	-	3	708	c.579G>A	c.(577-579)GCG>GCA	p.A193A		NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	193					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCCATTTTCCGCATGGACCT	0.453												
ZFPM2	23414	broad.mit.edu	37	8	106815064	106815064	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:106815064A>G	uc003ymd.2	+	8	2777	c.2754A>G	c.(2752-2754)AAA>AAG	p.K918K	ZFPM2_uc011lhs.1_Silent_p.K649K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	918					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AATGTGAGAAAAATGGGAATT	0.458												
RSPO2	340419	broad.mit.edu	37	8	109001362	109001362	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:109001362G>A	uc003yms.2	-	3	863	c.205C>T	c.(205-207)CGC>TGC	p.R69C	RSPO2_uc003ymq.2_Missense_Mutation_p.R2C|RSPO2_uc003ymr.2_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	69					Wnt receptor signaling pathway	extracellular region	heparin binding			skin(3)|ovary(2)|pancreas(1)|lung(1)	7			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCATACTGGCGCATCCCTTCT	0.473												
ENY2	56943	broad.mit.edu	37	8	110348379	110348379	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:110348379C>T	uc003ynd.2	+	2	91	c.29C>T	c.(28-30)GCG>GTG	p.A10V	NUDCD1_uc003ynb.3_5'Flank|NUDCD1_uc010mcl.2_5'Flank|ENY2_uc003ync.2_Missense_Mutation_p.A5V	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog	10					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity				0	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			AACAAAGATGCGCAGATGAGA	0.363												
SYBU	55638	broad.mit.edu	37	8	110588045	110588045	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:110588045T>A	uc003ynj.3	-	7	1245	c.1082A>T	c.(1081-1083)GAC>GTC	p.D361V	SYBU_uc003yni.3_Missense_Mutation_p.D358V|SYBU_uc003ynk.3_Missense_Mutation_p.D242V|SYBU_uc010mco.2_Missense_Mutation_p.D360V|SYBU_uc003ynl.3_Missense_Mutation_p.D360V|SYBU_uc010mcp.2_Missense_Mutation_p.D361V|SYBU_uc010mcq.2_Missense_Mutation_p.D361V|SYBU_uc003yno.3_Missense_Mutation_p.D242V|SYBU_uc010mcr.2_Missense_Mutation_p.D361V|SYBU_uc003ynm.3_Missense_Mutation_p.D360V|SYBU_uc003ynn.3_Missense_Mutation_p.D360V|SYBU_uc010mcs.2_Missense_Mutation_p.D242V|SYBU_uc010mct.2_Missense_Mutation_p.D361V|SYBU_uc010mcu.2_Missense_Mutation_p.D360V|SYBU_uc003ynp.3_Missense_Mutation_p.D293V|SYBU_uc010mcv.2_Missense_Mutation_p.D361V|SYBU_uc003ynh.3_Missense_Mutation_p.D155V|SYBU_uc011lhw.1_Missense_Mutation_p.D231V	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	361	Sufficient for interaction with STX1A.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						GATGTTTATGTCCACAAAATA	0.448												
CSMD3	114788	broad.mit.edu	37	8	113871489	113871489	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:113871489G>A	uc003ynu.2	-	11	1799	c.1640C>T	c.(1639-1641)ACG>ATG	p.T547M	CSMD3_uc003ynt.2_Missense_Mutation_p.T507M|CSMD3_uc011lhx.1_Missense_Mutation_p.T443M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	547	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						AGAGCCACACGTTTTCACTAA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
EXT1	2131	broad.mit.edu	37	8	118847717	118847717	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:118847717G>A	uc003yok.1	-	3	1903	c.1130C>T	c.(1129-1131)GCT>GTT	p.A377V		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	377	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral 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|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TATGACGGCAGCTTGGTTCCA	0.488			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome			
SNTB1	6641	broad.mit.edu	37	8	121823613	121823613	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:121823613G>A	uc010mdg.2	-	1	697	c.471C>T	c.(469-471)GGC>GGT	p.G157G	SNTB1_uc003ype.2_Silent_p.G157G	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	157	PH 1.|PDZ.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GGATGGCGTCGCCCACGTACA	0.647												
ZHX2	22882	broad.mit.edu	37	8	123965008	123965008	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:123965008C>T	uc003ypk.1	+	3	1825	c.1258C>T	c.(1258-1260)CGT>TGT	p.R420C		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	420	Required for interaction with NFYA.|Required for repressor activity.|Required for nuclear localization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAACCCAAGCGTCCACACAT	0.617												
ATAD2	29028	broad.mit.edu	37	8	124371546	124371546	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:124371546T>C	uc003yqh.3	-	11	1405	c.1297A>G	c.(1297-1299)AAT>GAT	p.N433D	ATAD2_uc011lii.1_Missense_Mutation_p.N224D|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.N433D	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	433					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)			GCTATATGATTAGACAGGCCA	0.358												
FER1L6	654463	broad.mit.edu	37	8	125022838	125022838	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:125022838T>C	uc003yqw.2	+	14	1911	c.1705T>C	c.(1705-1707)TAC>CAC	p.Y569H	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	569	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCACAGGAATTACAACTATTT	0.458												
TMEM65	157378	broad.mit.edu	37	8	125332355	125332355	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:125332355A>G	uc010mdl.2	-	6	1135	c.593T>C	c.(592-594)ATG>ACG	p.M198T		NM_194291	NP_919267	Q6PI78	TMM65_HUMAN	transmembrane protein 65	198						integral to membrane					0	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTTTGCCACATGTCAACTTG	0.418												
WISP1	8840	broad.mit.edu	37	8	134232963	134232963	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:134232963G>A	uc003yub.2	+	3	565	c.489G>A	c.(487-489)CCG>CCA	p.P163P	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	163	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGCGCCCCCCGCGTCTCTGGT	0.657												
ZFAT	57623	broad.mit.edu	37	8	135614542	135614542	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:135614542G>A	uc003yup.2	-	6	1595	c.1420C>T	c.(1420-1422)CGC>TGC	p.R474C	ZFAT_uc003yun.2_Missense_Mutation_p.R462C|ZFAT_uc003yuo.2_Missense_Mutation_p.R462C|ZFAT_uc010meh.2_Missense_Mutation_p.R462C|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.R462C|ZFAT_uc010mej.2_Missense_Mutation_p.R412C|ZFAT_uc003yur.2_Missense_Mutation_p.R462C	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	474	C2H2-type 9.				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)			ATGTGGGTGCGCAGCCTGATG	0.602												
FAM135B	51059	broad.mit.edu	37	8	139263228	139263228	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:139263228A>C	uc003yuy.2	-	6	569	c.398T>G	c.(397-399)GTC>GGC	p.V133G	FAM135B_uc003yux.2_Missense_Mutation_p.V34G|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	133										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)			TCGGCTGCTGACCATCGGTGC	0.582										HNSCC(54;0.14)		
GSDMD	79792	broad.mit.edu	37	8	144643943	144643943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:144643943G>A	uc010mfe.2	+	10	1471	c.768G>A	c.(766-768)TGG>TGA	p.W256*	GSDMD_uc003yyf.2_Nonsense_Mutation_p.W304*|GSDMD_uc003yyg.2_Nonsense_Mutation_p.W256*|GSDMD_uc003yyh.2_Nonsense_Mutation_p.W187*	NM_024736	NP_079012	P57764	GSDMD_HUMAN	gasdermin D	256											0						AAGGCGCCTGGCCACAGCTGC	0.672												
PYCRL	65263	broad.mit.edu	37	8	144688646	144688646	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:144688646G>A	uc003yyy.2	-	4	586	c.576C>T	c.(574-576)GGC>GGT	p.G192G	PYCRL_uc011lkm.1_Silent_p.G172G|PYCRL_uc011lkn.1_RNA	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	180					proline biosynthetic process		pyrroline-5-carboxylate reductase activity				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGAAGGCCACGCCACTGCCAC	0.652												
ZNF623	9831	broad.mit.edu	37	8	144733328	144733328	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:144733328G>T	uc003yzd.2	+	1	1375	c.1286G>T	c.(1285-1287)AGG>ATG	p.R429M	ZNF623_uc011lkp.1_Missense_Mutation_p.R389M|ZNF623_uc003yzc.2_Missense_Mutation_p.R389M	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTGGGGACAGGCCCTTCGAA	0.493												
PLEC	5339	broad.mit.edu	37	8	144990747	144990747	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:144990747G>A	uc003zaf.1	-	32	13823	c.13653C>T	c.(13651-13653)CGC>CGT	p.R4551R	PLEC_uc003zab.1_Silent_p.R4414R|PLEC_uc003zac.1_Silent_p.R4418R|PLEC_uc003zad.2_Silent_p.R4414R|PLEC_uc003zae.1_Silent_p.R4382R|PLEC_uc003zag.1_Silent_p.R4392R|PLEC_uc003zah.2_Silent_p.R4400R|PLEC_uc003zaj.2_Silent_p.R4441R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4551	Plectin 32.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCACCGTGCCGCGCTGCAGGG	0.677												
KIFC2	90990	broad.mit.edu	37	8	145694141	145694141	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:145694141G>A	uc003zcz.2	+	10	1102	c.1037G>A	c.(1036-1038)GGC>GAC	p.G346D		NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	346	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTGCGTCAGGGCTGCGGGGAC	0.672												
ARHGAP39	80728	broad.mit.edu	37	8	145771001	145771001	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:145771001T>C	uc003zdt.1	-	7	2708	c.2153A>G	c.(2152-2154)AAC>AGC	p.N718S	ARHGAP39_uc011llk.1_Missense_Mutation_p.N718S|ARHGAP39_uc003zds.1_Missense_Mutation_p.N718S	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	718					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						GGCCAGCATGTTGGCGATGGA	0.607												
ZNF251	90987	broad.mit.edu	37	8	145948088	145948088	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:145948088T>G	uc003zdv.3	-	5	1213	c.957A>C	c.(955-957)AAA>AAC	p.K319N		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACTTGTAGGGTTTCTCTCCTG	0.473												
RPL8	6132	broad.mit.edu	37	8	146015267	146015267	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:146015267G>A	uc003zeb.2	-	6	807	c.696C>T	c.(694-696)GGC>GGT	p.G232G	RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Silent_p.G196G|RPL8_uc003zec.2_Silent_p.G232G	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	232					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CCACTTTGCGGCCAGCAGGGG	0.587												
SMARCA2	6595	broad.mit.edu	37	9	2104016	2104016	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:2104016C>T	uc003zhc.2	+	23	3238	c.3139C>T	c.(3139-3141)CGG>TGG	p.R1047W	SMARCA2_uc003zhd.2_Missense_Mutation_p.R1047W|SMARCA2_uc010mha.2_Missense_Mutation_p.R980W	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1047					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAACTGTATCGGGCCTCAGG	0.408												
KIAA0020	9933	broad.mit.edu	37	9	2820070	2820070	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:2820070G>A	uc003zhp.1	-	13	1313	c.1217C>T	c.(1216-1218)GCG>GTG	p.A406V	KIAA0020_uc010mhc.1_Missense_Mutation_p.A405V|KIAA0020_uc003zhq.1_Missense_Mutation_p.A405V	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	406	Pumilio 5.|PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		ATCAAATGCCGCCAGTAAAAC	0.373												
KIAA0020	9933	broad.mit.edu	37	9	2831004	2831004	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:2831004G>A	uc003zhp.1	-	7	731	c.635C>T	c.(634-636)GCC>GTC	p.A212V	KIAA0020_uc010mhc.1_Missense_Mutation_p.A211V|KIAA0020_uc003zhq.1_Missense_Mutation_p.A212V	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	212	Pumilio 2.|PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)		CGAATATTTGGCTTTACTTAA	0.303												
JAK2	3717	broad.mit.edu	37	9	5089751	5089751	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:5089751G>A	uc010mhm.2	+	19	2762	c.2649G>A	c.(2647-2649)AAG>AAA	p.K883K	JAK2_uc003ziw.2_Silent_p.K883K	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	883	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CTGTAAAAAAGCTTCAGCATA	0.438		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial			
KDM4C	23081	broad.mit.edu	37	9	6805770	6805770	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:6805770G>A	uc003zkh.2	+	3	896	c.316G>A	c.(316-318)GGC>AGC	p.G106S	KDM4C_uc010mhu.2_Missense_Mutation_p.G128S|KDM4C_uc010mhw.2_Missense_Mutation_p.G106S|KDM4C_uc011lmi.1_Missense_Mutation_p.G106S|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.G106S|KDM4C_uc011lmk.1_Intron|KDM4C_uc010mhv.2_Missense_Mutation_p.G106S	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	106					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						GGCCAACAGTGGCAAGTGAGT	0.403												
KDM4C	23081	broad.mit.edu	37	9	6814672	6814672	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:6814672G>A	uc003zkh.2	+	4	942	c.362G>A	c.(361-363)CGC>CAC	p.R121H	KDM4C_uc010mhu.2_Missense_Mutation_p.R143H|KDM4C_uc010mhw.2_Missense_Mutation_p.R121H|KDM4C_uc011lmi.1_Missense_Mutation_p.R121H|KDM4C_uc011lmj.1_Intron|KDM4C_uc003zkg.2_Missense_Mutation_p.R121H|KDM4C_uc011lmk.1_5'UTR|KDM4C_uc010mhv.2_Missense_Mutation_p.R121H	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	121					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						GATTTGGAGCGCAAGTACTGG	0.363												
MPDZ	8777	broad.mit.edu	37	9	13140138	13140138	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:13140138T>C	uc010mia.1	-	27	3908	c.3851A>G	c.(3850-3852)CAG>CGG	p.Q1284R	MPDZ_uc010mib.2_5'Flank|MPDZ_uc010mhx.2_Missense_Mutation_p.Q106R|MPDZ_uc011lmm.1_Missense_Mutation_p.Q143R|MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Missense_Mutation_p.Q1284R|MPDZ_uc010mhz.2_Missense_Mutation_p.Q1251R|MPDZ_uc011lmn.1_Missense_Mutation_p.Q1251R|MPDZ_uc003zlb.3_Missense_Mutation_p.Q1284R	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1284					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)		TGACTCTGACTGACTGGGTGC	0.468												
ZDHHC21	340481	broad.mit.edu	37	9	14674299	14674299	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:14674299A>G	uc003zli.2	-	4	510	c.40T>C	c.(40-42)TGG>CGG	p.W14R	ZDHHC21_uc003zlg.1_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	14					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(50;4.31e-06)		ATGCAGCACCAACCATGTGGG	0.408												
CNTLN	54875	broad.mit.edu	37	9	17484293	17484293	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:17484293G>A	uc003zmz.2	+	24	3879	c.3853G>A	c.(3853-3855)GCT>ACT	p.A1285T	CNTLN_uc003zmy.2_Missense_Mutation_p.A1286T|CNTLN_uc010mio.2_Missense_Mutation_p.A965T	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1286	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		TATGTTACAGGCTTTGGCCAA	0.318												
B4GALT1	2683	broad.mit.edu	37	9	33167076	33167076	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:33167076G>A	uc003zsg.2	-	1	281	c.92C>T	c.(91-93)GCT>GTT	p.A31V		NM_001497	NP_001488	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	31	Helical; Signal-anchor for type II membrane protein; (Potential).			AL -> VW (in Ref. 1; AAA35936/AAA35937 and 6; AAA68220).	oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	AAGGTGCAGAGCGCAGACGGC	0.716												
NOL6	65083	broad.mit.edu	37	9	33462740	33462740	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:33462740T>C	uc003zsz.2	-	26	3464	c.3363A>G	c.(3361-3363)GCA>GCG	p.A1121A	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Silent_p.A175A|NOL6_uc003zta.2_Silent_p.A674A|NOL6_uc010mjv.2_Silent_p.A1118A|NOL6_uc011lob.1_Silent_p.A1069A|NOL6_uc003ztb.1_Intron	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	1121					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCTCCAGGATTGCTTCAACAT	0.567												
KIF24	347240	broad.mit.edu	37	9	34311229	34311229	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:34311229T>C	uc003zua.3	-	2	236	c.116A>G	c.(115-117)GAC>GGC	p.D39G	KIF24_uc010mkb.2_Missense_Mutation_p.D70G	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	39	SAM.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTGGAGTAGTCCTTCATTGT	0.368												
VCP	7415	broad.mit.edu	37	9	35067913	35067913	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:35067913G>A	uc003zvy.2	-	3	666	c.277C>T	c.(277-279)CGT>TGT	p.R93C	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.R48C	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	93					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGCGTACACGAAGGTTATTC	0.473												
UNC13B	10497	broad.mit.edu	37	9	35403768	35403768	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:35403768C>A	uc003zwq.2	+	39	4806	c.4514C>A	c.(4513-4515)CCC>CAC	p.P1505H	UNC13B_uc003zwr.2_Missense_Mutation_p.P1524H|ATP8B5P_uc010mkn.1_5'Flank|ATP8B5P_uc010mko.2_5'Flank|ATP8B5P_uc010mkp.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1505	C2 3.				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)			GAGGAGGGGCCCGAGTCCTAT	0.562												
RUSC2	9853	broad.mit.edu	37	9	35555607	35555607	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:35555607G>A	uc003zww.2	+	3	2820	c.2565G>A	c.(2563-2565)CCG>CCA	p.P855P	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.P855P	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	855						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGCTTGCCGCCTCTGGGCT	0.637												
FAM166B	730112	broad.mit.edu	37	9	35563290	35563290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:35563290C>T	uc010mkr.2	-	2	230	c.159G>A	c.(157-159)TGG>TGA	p.W53*	FAM166B_uc011lov.1_Nonsense_Mutation_p.W53*|FAM166B_uc011low.1_Nonsense_Mutation_p.W53*|FAM166B_uc003zwy.2_Nonsense_Mutation_p.W53*	NM_001164310	NP_001157782	A8MTA8	F166B_HUMAN	hypothetical protein LOC730112 isoform 1	53											0						GGACAGGGGGCCAGGCTAGGC	0.617												
TESK1	7016	broad.mit.edu	37	9	35609368	35609368	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:35609368C>T	uc003zxa.2	+	10	1846	c.1510C>T	c.(1510-1512)CAA>TAA	p.Q504*	TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Nonsense_Mutation_p.Q344*	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	504					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCGGCCTCCCAACCCTGGTC	0.657												
GRHPR	9380	broad.mit.edu	37	9	37428512	37428512	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:37428512C>T	uc003zzu.1	+	5	477	c.436C>T	c.(436-438)CTG>TTG	p.L146L	GRHPR_uc010mlu.2_Silent_p.L66L|GRHPR_uc010mlv.1_Silent_p.L66L|GRHPR_uc003zzt.1_Silent_p.L66L|GRHPR_uc003zzv.1_5'Flank|GRHPR_uc003zzw.1_5'Flank	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	146					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding				0				GBM - Glioblastoma multiforme(29;0.00687)		GCCCCTCTGGCTGTGTGGCTA	0.682												
FRMPD1	22844	broad.mit.edu	37	9	37746591	37746591	+	Missense_Mutation	SNP	C	C	T	rs150133117		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:37746591C>T	uc004aag.1	+	16	4606	c.4562C>T	c.(4561-4563)GCG>GTG	p.A1521V	FRMPD1_uc004aah.1_Missense_Mutation_p.A1521V	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1521						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		AGGGAGGCAGCGGGGAACCTG	0.607												
PRKACG	5568	broad.mit.edu	37	9	71628327	71628327	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:71628327G>A	uc004agy.2	-	1	713	c.682C>T	c.(682-684)CTC>TTC	p.L228F		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	228	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3						TCATAGATGAGCACCCCTAGG	0.612												
TMEM2	23670	broad.mit.edu	37	9	74329881	74329881	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:74329881C>A	uc011lsa.1	-	15	3100	c.2560G>T	c.(2560-2562)GAC>TAC	p.D854Y	TMEM2_uc010mos.2_Missense_Mutation_p.D791Y|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	854						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGCTTCTGGTCTATTCCTCCA	0.453												
ALDH1A1	216	broad.mit.edu	37	9	75539031	75539031	+	Silent	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:75539031T>G	uc004ajd.2	-	7	704	c.651A>C	c.(649-651)GGA>GGC	p.G217G	ALDH1A1_uc011lsh.1_Silent_p.G138G|ALDH1A1_uc011lsg.1_Silent_p.G43G	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	217					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TATTCACTACTCCAGGAGGAA	0.393												
VPS13A	23230	broad.mit.edu	37	9	79952237	79952237	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:79952237G>C	uc004akr.2	+	47	6422	c.6162G>C	c.(6160-6162)GAG>GAC	p.E2054D	VPS13A_uc004akp.3_Missense_Mutation_p.E2054D|VPS13A_uc004akq.3_Missense_Mutation_p.E2054D|VPS13A_uc004aks.2_Missense_Mutation_p.E2015D|VPS13A_uc004akt.2_Missense_Mutation_p.E394D	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2054					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						ACTTTGAAGAGATTATAAAAA	0.289												
SHC3	53358	broad.mit.edu	37	9	91657048	91657048	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:91657048G>A	uc004aqg.2	-	10	1560	c.1253C>T	c.(1252-1254)ACG>ATG	p.T418M		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	418	CH1.				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						TGCTTCTCCCGTGGGGGCCAC	0.572												
SEMA4D	10507	broad.mit.edu	37	9	91994251	91994251	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:91994251C>T	uc004aqo.1	-	18	2529	c.1957G>A	c.(1957-1959)GTA>ATA	p.V653I	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.V651I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	653	Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						GGGGCCACTACGGGCTTTGGA	0.557												
ROR2	4920	broad.mit.edu	37	9	94495680	94495680	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:94495680C>A	uc004arj.1	-	6	860	c.661G>T	c.(661-663)GAC>TAC	p.D221Y	ROR2_uc004ari.1_Missense_Mutation_p.D81Y|ROR2_uc004ark.2_Missense_Mutation_p.D221Y	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	221	FZ.|Extracellular (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GAGCACTGGTCCGACAGGTGC	0.642												
BICD2	23299	broad.mit.edu	37	9	95481241	95481241	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:95481241G>A	uc004aso.1	-	5	1743	c.1686C>T	c.(1684-1686)GGC>GGT	p.G562G	BICD2_uc004asp.1_Silent_p.G562G	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	562					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						GGCCGGCCCCGCCCTGGCCCT	0.687												
BICD2	23299	broad.mit.edu	37	9	95481833	95481833	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:95481833G>A	uc004aso.1	-	5	1151	c.1094C>T	c.(1093-1095)ACG>ATG	p.T365M	BICD2_uc004asp.1_Missense_Mutation_p.T365M	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	365	Potential.				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1						GTCCTGCAGCGTTGCCAGCAG	0.622												
WNK2	65268	broad.mit.edu	37	9	95993293	95993293	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:95993293T>C	uc004ati.1	+	3	978	c.978T>C	c.(976-978)TGT>TGC	p.C326C	WNK2_uc011lud.1_Silent_p.C326C|WNK2_uc004atj.2_Silent_p.C326C|WNK2_uc010mrc.1_Silent_p.C326C|WNK2_uc010mrd.1_5'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	326	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						ACCTGAAATGTGACAATATTT	0.537												
WNK2	65268	broad.mit.edu	37	9	95997109	95997109	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:95997109G>A	uc004ati.1	+	4	1095	c.1095G>A	c.(1093-1095)GCG>GCA	p.A365A	WNK2_uc011lud.1_Silent_p.A365A|WNK2_uc004atj.2_Silent_p.A365A|WNK2_uc004atk.2_Silent_p.A2A|WNK2_uc010mrc.1_Silent_p.A365A|WNK2_uc010mrd.1_Silent_p.A2A	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	365	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						AGTTCATGGCGCCCGAGATGT	0.617												
FAM120A	23196	broad.mit.edu	37	9	96261170	96261170	+	Splice_Site	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:96261170T>C	uc004atw.2	+	5	1055	c.1030_splice	c.e5+2	p.A344_splice	FAM120A_uc004atv.2_Splice_Site_p.A344_splice|FAM120A_uc004atx.2_Splice_Site_p.A126_splice|FAM120A_uc004aty.2_Splice_Site_p.A126_splice	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator							cytoplasm|plasma membrane	RNA binding				0						ATTACTTAGGTAAGTAAATAA	0.313												
PHF2	5253	broad.mit.edu	37	9	96438043	96438043	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:96438043C>T	uc004aub.2	+	20	2951	c.2804C>T	c.(2803-2805)GCG>GTG	p.A935V	PHF2_uc011lug.1_Missense_Mutation_p.A818V|PHF2_uc004auc.2_Missense_Mutation_p.A355V	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	935					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ACCGGGCTGGCGGCTGCTGCA	0.652												
PTCH1	5727	broad.mit.edu	37	9	98268780	98268780	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:98268780G>A	uc004avk.3	-	2	491	c.303C>T	c.(301-303)TTC>TTT	p.F101F	PTCH1_uc010mro.2_5'UTR|PTCH1_uc010mrp.2_5'UTR|PTCH1_uc010mrq.2_5'UTR|PTCH1_uc004avl.3_5'UTR|PTCH1_uc010mrr.2_Silent_p.F35F|PTCH1_uc004avm.3_Silent_p.F100F|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA|PTCH1_uc004avo.2_Silent_p.F35F|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	101	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)				CCACAACCAAGAACTTGCCGC	0.512									Basal_Cell_Nevus_syndrome			
CDC14B	8555	broad.mit.edu	37	9	99285991	99285991	+	Silent	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:99285991C>A	uc004awj.2	-	10	1415	c.963G>T	c.(961-963)ACG>ACT	p.T321T	CDC14B_uc004awk.2_Silent_p.T321T|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Silent_p.T284T	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	321	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TCAGAGTGCCCGTGCGACCAA	0.498												
TDRD7	23424	broad.mit.edu	37	9	100245400	100245400	+	Silent	SNP	C	C	T	rs138199272		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:100245400C>T	uc004axj.2	+	15	2907	c.2682C>T	c.(2680-2682)AGC>AGT	p.S894S	TDRD7_uc011lux.1_Silent_p.S820S|TDRD7_uc010msp.1_Silent_p.S146S|TDRD7_uc011luy.1_Silent_p.S214S	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	894	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				ACCATACGAGCGCTTTCTCCA	0.507												
TMOD1	7111	broad.mit.edu	37	9	100353681	100353681	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:100353681C>T	uc004axk.1	+	9	1192	c.979C>T	c.(979-981)CGG>TGG	p.R327W	TMOD1_uc004axl.1_Missense_Mutation_p.R327W	NM_003275	NP_003266	P28289	TMOD1_HUMAN	tropomodulin 1	327					muscle filament sliding	cytosol	actin binding				0		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		ACCCCGGCTTCGGGCATCCAA	0.507												
GABBR2	9568	broad.mit.edu	37	9	101258740	101258740	+	Silent	SNP	G	G	A	rs149573430	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:101258740G>A	uc004ays.2	-	4	843	c.687C>T	c.(685-687)ACC>ACT	p.T229T		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	229	Extracellular (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGAAGCTCTCGGTGTCTGAAA	0.542												
NR4A3	8013	broad.mit.edu	37	9	102590423	102590423	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:102590423C>T	uc004baf.1	+	3	828	c.99C>T	c.(97-99)CCC>CCT	p.P33P	NR4A3_uc004bae.2_Silent_p.P33P|NR4A3_uc004bag.1_Silent_p.P33P|NR4A3_uc004bai.2_Silent_p.P44P	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	33					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TCATGAACCCCGACTACACCA	0.572			T	EWSR1	extraskeletal myxoid chondrosarcoma							
TMEFF1	8577	broad.mit.edu	37	9	103204533	103204533	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:103204533G>A	uc004bay.1	+	1	346	c.313G>A	c.(313-315)GTC>ATC	p.V105I	C9orf30_uc004baw.2_Missense_Mutation_p.V105I|C9orf30_uc004bax.2_RNA	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	Error:Variant_position_missing_in_Q8IYR6_after_alignment					multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				GAGTACCCACGTCCTAGGGAA	0.582												
ACTL7B	10880	broad.mit.edu	37	9	111617246	111617246	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:111617246C>T	uc004bdi.2	-	1	1030	c.965G>A	c.(964-966)TGC>TAC	p.C322Y		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	322						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GCGGCCCAGGCAGGCAGCTGT	0.657												
ACTL7B	10880	broad.mit.edu	37	9	111617489	111617489	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:111617489C>T	uc004bdi.2	-	1	787	c.722G>A	c.(721-723)GGC>GAC	p.G241D		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	241						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GAATGCGTGGCCCGCCTCATT	0.642												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900030	112900030	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:112900030G>A	uc004bei.2	+	9	3094	c.2902G>A	c.(2902-2904)GCA>ACA	p.A968T	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.A736T|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.A736T|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.A546T|AKAP2_uc011lwi.1_Missense_Mutation_p.A594T|AKAP2_uc004bem.2_Missense_Mutation_p.A594T|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.A554T|AKAP2_uc011lwj.1_Missense_Mutation_p.A505T|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.A505T	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	505							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						TGACAGCGGGGCATCCAATGA	0.522												
SVEP1	79987	broad.mit.edu	37	9	113197545	113197545	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:113197545C>T	uc010mtz.2	-	29	5201	c.4864G>A	c.(4864-4866)GAT>AAT	p.D1622N		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1622	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CTCTTAGAATCGATCTTCACT	0.448												
SVEP1	79987	broad.mit.edu	37	9	113228188	113228188	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:113228188G>A	uc010mtz.2	-	18	3616	c.3279C>T	c.(3277-3279)ACC>ACT	p.T1093T	SVEP1_uc010mua.1_Silent_p.T1093T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1093					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TCACAGTTGAGGTGTTTTCTG	0.443												
WDR31	114987	broad.mit.edu	37	9	116079151	116079151	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:116079151A>G	uc004bhe.2	-	11	1234	c.982T>C	c.(982-984)TTG>CTG	p.L328L	uc004bhb.2_5'Flank|WDR31_uc004bhc.2_Silent_p.L327L|WDR31_uc004bhd.2_Silent_p.L203L|WDR31_uc004bhf.2_RNA	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	WD repeat domain 31 isoform 1	328											0						AGAGAAGTCAAGGGTCCTGAT	0.502												
C9orf43	257169	broad.mit.edu	37	9	116187629	116187629	+	Silent	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:116187629A>C	uc004bho.3	+	10	1267	c.871A>C	c.(871-873)AGG>CGG	p.R291R	C9orf43_uc004bhp.2_Silent_p.R291R	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	291											0						ACCAGGTTACAGGAAAcagca	0.428												
RGS3	5998	broad.mit.edu	37	9	116269753	116269753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:116269753C>A	uc004bhq.2	+	14	1481	c.1272C>A	c.(1270-1272)TGC>TGA	p.C424*	RGS3_uc004bhr.2_Nonsense_Mutation_p.C312*|RGS3_uc004bhs.2_Nonsense_Mutation_p.C314*|RGS3_uc004bht.2_Nonsense_Mutation_p.C143*|RGS3_uc010muy.2_Nonsense_Mutation_p.C143*|RGS3_uc004bhu.2_Nonsense_Mutation_p.C50*	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	424					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						GCCACAGCTGCCACCTGGTAT	0.657												
RGS3	5998	broad.mit.edu	37	9	116276899	116276899	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:116276899G>A	uc004bhq.2	+	16	1848	c.1639G>A	c.(1639-1641)GCC>ACC	p.A547T	RGS3_uc004bhr.2_Missense_Mutation_p.A435T|RGS3_uc004bhs.2_Missense_Mutation_p.A437T|RGS3_uc004bht.2_Missense_Mutation_p.A266T|RGS3_uc010muy.2_Missense_Mutation_p.A266T|RGS3_uc004bhu.2_Missense_Mutation_p.A173T	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	547					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						CGTCACCCTGGCCCCCAAAGT	0.592												
ZNF618	114991	broad.mit.edu	37	9	116811442	116811442	+	Silent	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:116811442G>T	uc004bid.2	+	15	1959	c.1860G>T	c.(1858-1860)CGG>CGT	p.R620R	ZNF618_uc004bic.2_Silent_p.R527R|ZNF618_uc011lxi.1_Silent_p.R587R|ZNF618_uc011lxj.1_Silent_p.R588R|ZNF618_uc010mvb.2_Silent_p.R210R	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGGATTGCCGGGTGAGCACGT	0.612												
COL27A1	85301	broad.mit.edu	37	9	116930239	116930239	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:116930239C>T	uc011lxl.1	+	3	404	c.404C>T	c.(403-405)ACG>ATG	p.T135M	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Translation_Start_Site	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	135	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CCCGGCAAGACGGTCGTCCAC	0.682												
ORM1	5004	broad.mit.edu	37	9	117085980	117085980	+	Missense_Mutation	SNP	G	G	A	rs146832261		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:117085980G>A	uc004bik.3	+	2	263	c.152G>A	c.(151-153)CGA>CAA	p.R51Q	ORM1_uc011lxo.1_Missense_Mutation_p.R51Q	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	51					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	TCGGCCTTTCGAAACGAGGAG	0.443												
AKNA	80709	broad.mit.edu	37	9	117139520	117139520	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:117139520G>A	uc004biq.3	-	2	702	c.567C>T	c.(565-567)GTC>GTT	p.V189V	AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Silent_p.V108V|AKNA_uc004bir.3_Silent_p.V189V|AKNA_uc004bis.3_Silent_p.V189V|AKNA_uc010mve.2_Silent_p.V70V|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Silent_p.V189V|AKNA_uc004biw.1_Silent_p.V189V	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						CGGATGGGTTGACCTCGGAAT	0.587												
CDK5RAP2	55755	broad.mit.edu	37	9	123165217	123165217	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:123165217C>T	uc004bkf.2	-	34	5355	c.5174G>A	c.(5173-5175)CGC>CAC	p.R1725H	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.R734H|CDK5RAP2_uc004bke.2_Missense_Mutation_p.R1010H|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R1646H|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.R990H|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.R990H|CDK5RAP2_uc011lya.1_Missense_Mutation_p.R990H|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R1495H	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1725					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CAGGACATGGCGGCCATTCTT	0.592												
C5	727	broad.mit.edu	37	9	123742388	123742388	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:123742388C>T	uc004bkv.2	-	28	3661	c.3631G>A	c.(3631-3633)GCT>ACT	p.A1211T		NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	1211					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTCTTCAAAGCTGAAACAATT	0.303												
PTGS1	5742	broad.mit.edu	37	9	125143952	125143952	+	Missense_Mutation	SNP	G	G	A	rs3842795	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:125143952G>A	uc004bmg.1	+	7	823	c.688G>A	c.(688-690)GGC>AGC	p.G230S	PTGS1_uc011lys.1_Missense_Mutation_p.G205S|PTGS1_uc010mwb.1_Missense_Mutation_p.G121S|PTGS1_uc004bmf.1_Missense_Mutation_p.G230S|PTGS1_uc004bmh.1_Missense_Mutation_p.G121S|PTGS1_uc011lyt.1_Missense_Mutation_p.G121S	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	230					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GGTAGACCTCGGCCACATTTA	0.567												
OR1N1	138883	broad.mit.edu	37	9	125289221	125289221	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:125289221A>C	uc004bmn.1	-	1	352	c.352T>G	c.(352-354)TAT>GAT	p.Y118D		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						TAGCGGTCATACGCCATGGCA	0.527												
OR1L1	26737	broad.mit.edu	37	9	125424142	125424142	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:125424142C>T	uc011lza.1	+	1	298	c.298C>T	c.(298-300)CGC>TGC	p.R100C		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L,	100	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						CCTGGCCATCCGCTCAGACAC	0.483												
LHX2	9355	broad.mit.edu	37	9	126776328	126776328	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:126776328A>G	uc004boe.1	+	2	948	c.209A>G	c.(208-210)GAC>GGC	p.D70G	LHX2_uc010mwi.1_Missense_Mutation_p.D70G	NM_004789	NP_004780	P50458	LHX2_HUMAN	LIM homeobox protein 2	70	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTGGCGGTGGACAAGCAGTGG	0.632												
WDR38	401551	broad.mit.edu	37	9	127616498	127616498	+	Silent	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:127616498C>A	uc004box.2	+	2	140	c.84C>A	c.(82-84)GCC>GCA	p.A28A	WDR38_uc011lzn.1_Intron|WDR38_uc011lzo.1_Silent_p.A28A|WDR38_uc011lzp.1_5'UTR	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	28	WD 1.										0						ACTCTTCTGCCTTCTCCCCTG	0.597												
PBX3	5090	broad.mit.edu	37	9	128725361	128725361	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:128725361A>G	uc004bqb.2	+	8	1309	c.1193A>G	c.(1192-1194)TAC>TGC	p.Y398C	PBX3_uc004bqc.2_Missense_Mutation_p.Y217C|PBX3_uc004bqd.2_3'UTR|PBX3_uc011lzw.1_Missense_Mutation_p.Y323C|PBX3_uc011lzx.1_3'UTR|PBX3_uc004bqe.2_Missense_Mutation_p.Y306C	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	398				Y -> C (in Ref. 2; AAL09477).	anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						AATTCACTGTACAGTCCACAT	0.413												
TTC16	158248	broad.mit.edu	37	9	130486431	130486431	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:130486431A>G	uc004brq.1	+	8	972	c.905A>G	c.(904-906)GAT>GGT	p.D302G	PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.D289G|TTC16_uc004brr.1_Missense_Mutation_p.D247G|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	302	TPR 5.						binding				0						CAGGAGTTCGATGGGGCAGTG	0.657												
C9orf114	51490	broad.mit.edu	37	9	131589411	131589411	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:131589411G>A	uc004bwd.2	-	4	294	c.268C>T	c.(268-270)CCG>TCG	p.P90S	C9orf114_uc004bwe.2_Missense_Mutation_p.P90S|C9orf114_uc010mym.2_RNA	NM_016390	NP_057474	Q5T280	CI114_HUMAN	hypothetical protein LOC51490	90											0						CGAAGCTCCGGCGACTGAGCA	0.607												
DOLPP1	57171	broad.mit.edu	37	9	131847515	131847515	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:131847515G>A	uc004bxc.2	+	4	320	c.292G>A	c.(292-294)GGG>AGG	p.G98R	DOLPP1_uc004bxd.2_Missense_Mutation_p.G98R|DOLPP1_uc004bxe.2_RNA|DOLPP1_uc004bxf.2_5'Flank	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a	98					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			skin(1)	1						CACCAAGTACGGGATGCCCTC	0.582												
USP20	10868	broad.mit.edu	37	9	132637208	132637208	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:132637208C>T	uc004bys.2	+	19	2233	c.2022C>T	c.(2020-2022)AAC>AAT	p.N674N	USP20_uc004byr.2_Silent_p.N674N|USP20_uc004byt.1_Silent_p.N674N	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	674					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				TGGTGCAGAACGCCGAGGGCT	0.607												
LAMC3	10319	broad.mit.edu	37	9	133901719	133901719	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:133901719C>T	uc004caa.1	+	2	519	c.421C>T	c.(421-423)CGC>TGC	p.R141C		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	141	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCACACCAGTCGCCCTGAGAG	0.592												
POMT1	10585	broad.mit.edu	37	9	134393862	134393862	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:134393862G>A	uc004cav.2	+	14	1571	c.1369G>A	c.(1369-1371)GTC>ATC	p.V457I	POMT1_uc004cax.2_Missense_Mutation_p.V435I|POMT1_uc011mcj.1_Missense_Mutation_p.V213I|POMT1_uc004cau.2_Missense_Mutation_p.V435I|POMT1_uc004caw.2_Missense_Mutation_p.V381I|POMT1_uc011mck.1_Missense_Mutation_p.V318I|POMT1_uc011mcl.1_Missense_Mutation_p.V283I|POMT1_uc011mcm.1_Missense_Mutation_p.V405I|POMT1_uc011mcn.1_Missense_Mutation_p.V160I	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	457	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)		TGACACAGACGTCTGGAAGAC	0.448												
NTNG2	84628	broad.mit.edu	37	9	135102276	135102276	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:135102276G>A	uc004cbh.2	+	4	1674	c.898G>A	c.(898-900)GAG>AAG	p.E300K		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	300	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTCCATGCGCGAGGGCAGCCT	0.657												
C9orf98	158067	broad.mit.edu	37	9	135690055	135690055	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:135690055T>C	uc004cbu.1	-	10	1505	c.949A>G	c.(949-951)ATC>GTC	p.I317V	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.I113V	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	317	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		AAGGGCTGGATGAGCTCGCCA	0.498												
GTF3C5	9328	broad.mit.edu	37	9	135906432	135906432	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:135906432G>A	uc004cci.3	+	1	371	c.34G>A	c.(34-36)GCC>ACC	p.A12T	GTF3C5_uc010mzz.2_5'UTR|GTF3C5_uc004ccj.3_Missense_Mutation_p.A12T	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	12						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GGGGCTGGGGGCCGCCGTCCC	0.692												
SURF1	6834	broad.mit.edu	37	9	136219368	136219368	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:136219368A>C	uc004cdh.1	-	7	716	c.684T>G	c.(682-684)CAT>CAG	p.H228Q	SURF1_uc004cdg.1_Missense_Mutation_p.H119Q	NM_003172	NP_003163	Q15526	SURF1_HUMAN	surfeit 1	228					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)	2				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		GGTCTCGATAATGCCAGTGGT	0.512											OREG0019585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C9orf96	169436	broad.mit.edu	37	9	136262382	136262382	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:136262382A>G	uc004cdk.2	+	10	1019	c.958A>G	c.(958-960)ACC>GCC	p.T320A	C9orf96_uc004cdl.2_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	320							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGCGTCCATCACCGACATGCT	0.587												
VAV2	7410	broad.mit.edu	37	9	136662911	136662911	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:136662911T>C	uc004ces.2	-	10	903	c.857A>G	c.(856-858)TAC>TGC	p.Y286C	VAV2_uc004cer.2_Missense_Mutation_p.Y281C	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	286	DH.				angiogenesis|apoptosis|axon guidance|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	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GTGGCTGCAGTACTCCCCGTA	0.592												
COL5A1	1289	broad.mit.edu	37	9	137591897	137591897	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:137591897C>T	uc004cfe.2	+	3	802	c.420C>T	c.(418-420)TAC>TAT	p.Y140Y		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	140	TSP N-terminal.|Laminin G-like.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCTTCCTCTACGAGGACCACA	0.607												
FCN1	2219	broad.mit.edu	37	9	137804344	137804344	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:137804344G>T	uc004cfi.2	-	7	678	c.586C>A	c.(586-588)CTG>ATG	p.L196M		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	196	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TGGGCAGTCAGGGCGTGGATG	0.637												
OLFM1	10439	broad.mit.edu	37	9	138011566	138011566	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:138011566C>T	uc010nar.2	+	6	1316	c.1000C>T	c.(1000-1002)CGC>TGC	p.R334C	OLFM1_uc004cfl.3_Missense_Mutation_p.R316C|OLFM1_uc004cfn.3_Missense_Mutation_p.R85C	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	334	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCTCAAGACCCGCAGCCTGGA	0.562												
SNAPC4	6621	broad.mit.edu	37	9	139278455	139278455	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:139278455G>A	uc004chh.2	-	14	1459	c.1450C>T	c.(1450-1452)CCC>TCC	p.P484S		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	484	HTH myb-type 3.|H-T-H motif (By similarity).				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)		GACCGATGGGGCAGCTCAGAA	0.527												
MAMDC4	158056	broad.mit.edu	37	9	139748023	139748023	+	Nonsense_Mutation	SNP	C	C	T	rs146167637	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:139748023C>T	uc004cjs.2	+	4	405	c.355C>T	c.(355-357)CGA>TGA	p.R119*	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	119	Extracellular (Potential).|MAM 1.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGGAACCCACCGAGGGAAAGA	0.657												
C9orf139	401563	broad.mit.edu	37	9	139929124	139929124	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:139929124G>A	uc004ckp.1	+	3	1705	c.191G>A	c.(190-192)AGG>AAG	p.R64K	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	hypothetical protein LOC401563	64											0	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		AGTTCCTGCAGGAAGGAGGCT	0.667												
SLC34A3	142680	broad.mit.edu	37	9	140130434	140130434	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:140130434G>A	uc004cmf.1	+	13	1552	c.1366G>A	c.(1366-1368)GCC>ACC	p.A456T	SLC34A3_uc011met.1_Missense_Mutation_p.A456T	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	456	Helical; Name=M6; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTTCAACCTGGCCGGCATCCT	0.711											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC34A3	142680	broad.mit.edu	37	9	140130512	140130512	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:140130512G>A	uc004cmf.1	+	13	1630	c.1444G>A	c.(1444-1446)GCC>ACC	p.A482T	SLC34A3_uc011met.1_Missense_Mutation_p.A482T	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	482	Cytoplasmic (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGTGGTGACCGCCCGTTACCG	0.682											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C9orf173	441476	broad.mit.edu	37	9	140147666	140147666	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:140147666G>A	uc004cmk.1	+	6	921	c.909G>A	c.(907-909)GCG>GCA	p.A303A	C9orf173_uc004cmj.1_Missense_Mutation_p.R299H|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_Missense_Mutation_p.R243H|C9orf173_uc004cml.1_Silent_p.A248A|COBRA1_uc004cmm.3_5'Flank			Q8N7X2	CI173_HUMAN	SubName: Full=LOC441476 protein;	307										pancreas(1)	1						AGACCCAAGCGCCACGACACA	0.682												
IL3RA	3563	broad.mit.edu	37	X	1499988	1499988	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:1499988C>T	uc004cps.2	+	11	1402	c.1053C>T	c.(1051-1053)AAC>AAT	p.N351N	IL3RA_uc011mhd.1_Silent_p.N273N	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	351	Cytoplasmic (Potential).					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCTTCCAAAACGACAAGCTGG	0.423												
MXRA5	25878	broad.mit.edu	37	X	3228890	3228890	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:3228890C>T	uc004crg.3	-	7	7511	c.7354G>A	c.(7354-7356)GTG>ATG	p.V2452M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2452	Ig-like C2-type 9.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATCTCCCGCACAGTGGTGATG	0.587												
HCCS	3052	broad.mit.edu	37	X	11133052	11133052	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:11133052T>C	uc004cuk.2	+	3	464	c.198T>C	c.(196-198)TGT>TGC	p.C66C	HCCS_uc004cuj.2_Silent_p.C66C|HCCS_uc004cul.1_Silent_p.C66C	NM_005333	NP_005324	P53701	CCHL_HUMAN	holocytochrome c synthase	66					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding				0						ACGTGGAGTGTCCCATTAGGG	0.498												
GEMIN8	54960	broad.mit.edu	37	X	14027102	14027102	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:14027102T>C	uc004cwb.2	-	5	1002	c.659A>G	c.(658-660)CAG>CGG	p.Q220R	GEMIN8_uc004cwc.2_Missense_Mutation_p.Q220R|GEMIN8_uc004cwd.2_Missense_Mutation_p.Q220R	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	220					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0						AAAGCTCAGCTGCACCGCGGC	0.617												
MBTPS2	51360	broad.mit.edu	37	X	21896785	21896785	+	Silent	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:21896785A>G	uc004dae.2	+	9	1433	c.1236A>G	c.(1234-1236)GGA>GGG	p.G412G	MBTPS2_uc010nfr.2_Silent_p.G5G	NM_015884	NP_056968	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase,	412	Lumenal (Probable).				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			ovary(1)	1						TATACGTAGGACATCCTCTGC	0.368												
POLA1	5422	broad.mit.edu	37	X	24760164	24760164	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:24760164T>C	uc004dbl.2	+	22	2397	c.2374T>C	c.(2374-2376)TTG>CTG	p.L792L	SCARNA23_uc004dbo.1_5'Flank	NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	792					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)	CGAGTTCTTGTTGCTTCATGC	0.383												
OTC	5009	broad.mit.edu	37	X	38271179	38271179	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:38271179T>G	uc004def.3	+	9	1146	c.932T>G	c.(931-933)GTG>GGG	p.V311G		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	311					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CCAGAAGAAGTGGATGATGAA	0.423												
CXorf38	159013	broad.mit.edu	37	X	40496296	40496296	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:40496296A>T	uc004dew.2	-	4	589	c.584T>A	c.(583-585)ATC>AAC	p.I195N	CXorf38_uc011mko.1_Missense_Mutation_p.I110N|CXorf38_uc004dev.1_Missense_Mutation_p.I76N|CXorf38_uc010nhd.2_RNA	NM_144970	NP_659407	Q8TB03	CX038_HUMAN	hypothetical protein LOC159013	195										ovary(1)	1						AATCTCTGGGATGTTCTTGAA	0.373												
RBM10	8241	broad.mit.edu	37	X	47044527	47044527	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:47044527C>A	uc004dhf.2	+	18	2403	c.2024C>A	c.(2023-2025)CCT>CAT	p.P675H	RBM10_uc004dhg.2_Missense_Mutation_p.P597H|RBM10_uc004dhh.2_Missense_Mutation_p.P674H|RBM10_uc010nhq.2_Missense_Mutation_p.P598H|RBM10_uc004dhi.2_Missense_Mutation_p.P740H	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	675					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						AGCTTCCAGCCTATCAGCTCC	0.562												
CCNB3	85417	broad.mit.edu	37	X	50053307	50053307	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:50053307T>C	uc004dox.3	+	6	2436	c.2138T>C	c.(2137-2139)TTG>TCG	p.L713S	CCNB3_uc004doy.2_Missense_Mutation_p.L713S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	713					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					TTGTTGGCTTTGCAGGAGAAA	0.468												
CCNB3	85417	broad.mit.edu	37	X	50054263	50054263	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:50054263G>A	uc004dox.3	+	6	3392	c.3094G>A	c.(3094-3096)GCC>ACC	p.A1032T	CCNB3_uc004doy.2_Missense_Mutation_p.A1032T|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1032					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					GGAGCCATTGGCCTTACAAGA	0.473												
DGKK	139189	broad.mit.edu	37	X	50130583	50130583	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:50130583T>C	uc010njr.1	-	14	2147	c.2087A>G	c.(2086-2088)AAC>AGC	p.N696S		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	696					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					TGCAGTGTTGTTCTGTTTTAT	0.383												
HUWE1	10075	broad.mit.edu	37	X	53586338	53586338	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:53586338T>C	uc004dsp.2	-	57	8294	c.7892A>G	c.(7891-7893)CAG>CGG	p.Q2631R	HUWE1_uc004dsn.2_Missense_Mutation_p.Q1455R|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2631					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						AGCTGTGCTCTGATCATGGAA	0.522												
SPIN2A	54466	broad.mit.edu	37	X	57162586	57162586	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:57162586C>A	uc004dvb.2	-	2	816	c.445G>T	c.(445-447)GGG>TGG	p.G149W		NM_019003	NP_061876	Q99865	SPI2A_HUMAN	spindlin family, member 2	149					cell cycle|gamete generation						0						AAGACCATCCCCCTCCATTCA	0.408												
HEPH	9843	broad.mit.edu	37	X	65413405	65413405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:65413405C>T	uc011moz.1	+	8	1363	c.1303C>T	c.(1303-1305)CGA>TGA	p.R435*	HEPH_uc004dwn.2_Nonsense_Mutation_p.R435*|HEPH_uc004dwo.2_Nonsense_Mutation_p.R165*|HEPH_uc010nkr.2_Nonsense_Mutation_p.R435*|HEPH_uc011mpa.1_Nonsense_Mutation_p.R435*	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	432	Extracellular (Potential).|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						CTGGAAAGTGCGATATGAAGC	0.368												
NHSL2	340527	broad.mit.edu	37	X	71359790	71359790	+	Missense_Mutation	SNP	C	C	T	rs144260909	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:71359790C>T	uc011mqa.1	+	6	2392	c.2392C>T	c.(2392-2394)CGG>TGG	p.R798W	NHSL2_uc004eak.1_Missense_Mutation_p.R432W|NHSL2_uc010nli.2_Missense_Mutation_p.R567W	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN	NHS-like 2	798											0	Renal(35;0.156)					TAAGGTGAGTCGGCACCACTC	0.498												
NAP1L3	4675	broad.mit.edu	37	X	92927070	92927070	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:92927070C>T	uc004efq.2	-	1	1539	c.1234G>A	c.(1234-1236)GTT>ATT	p.V412I	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	412					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						GTCACAGTAACATCTTTTCCT	0.418												
CSTF2	1478	broad.mit.edu	37	X	100088274	100088274	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:100088274G>A	uc004egh.2	+	11	1371	c.1313G>A	c.(1312-1314)CGT>CAT	p.R438H	CSTF2_uc010nnd.2_Missense_Mutation_p.R458H|CSTF2_uc004egi.2_Missense_Mutation_p.R421H	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	438	6.|12 X 5 AA tandem repeats of M-E-A-R-[AG].				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						ATGGAGGCCCGTGCGATGGAA	0.622												
TRMT2B	79979	broad.mit.edu	37	X	100292967	100292967	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:100292967A>G	uc004egq.2	-	4	676	c.377T>C	c.(376-378)GTG>GCG	p.V126A	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.V126A|TRMT2B_uc004egs.2_Missense_Mutation_p.V126A|TRMT2B_uc004egt.2_Missense_Mutation_p.V126A|TRMT2B_uc004egu.2_Missense_Mutation_p.V7A|TRMT2B_uc004egv.2_Intron	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	126							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1						AGCCGTTGTCACACTGACTCC	0.423												
ARMCX5	64860	broad.mit.edu	37	X	101857120	101857120	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:101857120C>T	uc004ejg.2	+	6	932	c.51C>T	c.(49-51)GGC>GGT	p.G17G	ARMCX5_uc004ejh.2_Silent_p.G17G	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	17							binding			ovary(1)	1						CTGAGGCTGGCCTGCAAGATG	0.527												
GPRASP1	9737	broad.mit.edu	37	X	101909665	101909665	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:101909665C>A	uc004ejj.3	+	5	1625	c.824C>A	c.(823-825)CCC>CAC	p.P275H	GPRASP1_uc004eji.3_Missense_Mutation_p.P275H|GPRASP1_uc010nod.2_Missense_Mutation_p.P275H	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	275						cytoplasm	protein binding			ovary(1)|lung(1)	2						TGGTCTGGGCCCAGGGAAGAT	0.468												
TCEAL5	340543	broad.mit.edu	37	X	102529176	102529176	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:102529176G>A	uc004ejz.1	-	3	611	c.316C>T	c.(316-318)CGC>TGC	p.R106C		NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(1)|breast(1)	2						TCAGCCGGGCGCTTTTCGGCG	0.587												
BEX2	84707	broad.mit.edu	37	X	102564733	102564733	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:102564733C>T	uc004ekb.2	-	3	411	c.172G>A	c.(172-174)GTT>ATT	p.V58I	BEX2_uc004eka.2_Missense_Mutation_p.V87I	NM_032621	NP_116010	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	58					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				ovary(1)	1						GGCTGCCTAACGCGGAACCGC	0.498												
TSC22D3	1831	broad.mit.edu	37	X	106957913	106957913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:106957913G>A	uc004eng.2	-	3	491	c.241C>T	c.(241-243)CGA>TGA	p.R81*	TSC22D3_uc004enf.2_Nonsense_Mutation_p.R24*|TSC22D3_uc004enh.2_Nonsense_Mutation_p.R147*|TSC22D3_uc004eni.2_Nonsense_Mutation_p.R147*|TSC22D3_uc004enj.2_Nonsense_Mutation_p.R147*	NM_004089	NP_004080	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 2	81	Leucine-zipper.						sequence-specific DNA binding transcription factor activity				0						ACCAGCTCTCGGATCTGCTCC	0.522												
KCNE1L	23630	broad.mit.edu	37	X	108868075	108868075	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:108868075C>T	uc004eoh.2	-	1	319	c.175G>A	c.(175-177)GCC>ACC	p.A59T		NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN	potassium voltage-gated channel, Isk-related	59					regulation of heart contraction	voltage-gated potassium channel complex					0						TAGAGATAGGCGTCGTCGCCC	0.657												
RGAG1	57529	broad.mit.edu	37	X	109697380	109697380	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:109697380T>G	uc004eor.1	+	3	3781	c.3535T>G	c.(3535-3537)TTT>GTT	p.F1179V	RGAG1_uc011msr.1_Missense_Mutation_p.F1179V	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1179										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						AATGAAGGGGTTTTTGGACGA	0.507												
LUZP4	51213	broad.mit.edu	37	X	114540853	114540853	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:114540853T>A	uc004eqa.2	+	4	460	c.426T>A	c.(424-426)AAT>AAA	p.N142K	LUZP4_uc004eqb.2_Missense_Mutation_p.N60K	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	142						nucleus				ovary(2)	2						CAGAAGGAAATCCGGACAAAT	0.463												
KLHL13	90293	broad.mit.edu	37	X	117043783	117043783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:117043783G>A	uc004eql.2	-	5	909	c.847C>T	c.(847-849)CGA>TGA	p.R283*	KLHL13_uc004eqk.2_Nonsense_Mutation_p.R232*|KLHL13_uc011mtn.1_Nonsense_Mutation_p.R123*|KLHL13_uc011mto.1_Nonsense_Mutation_p.R277*|KLHL13_uc011mtp.1_Nonsense_Mutation_p.R285*|KLHL13_uc004eqm.2_Nonsense_Mutation_p.R232*|KLHL13_uc011mtq.1_Nonsense_Mutation_p.R267*	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	283	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						AGTGGAAATCGTATGTTCTTC	0.438												
WDR44	54521	broad.mit.edu	37	X	117532356	117532356	+	Silent	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:117532356C>T	uc004eqn.2	+	8	1622	c.1197C>T	c.(1195-1197)GAC>GAT	p.D399D	WDR44_uc004eqo.2_Silent_p.D399D|WDR44_uc011mtr.1_Silent_p.D374D|WDR44_uc010nqi.2_Silent_p.D109D	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	399						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						ACAGTAATGACGCGGCACAGT	0.353												
DCAF12L2	340578	broad.mit.edu	37	X	125299494	125299494	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:125299494G>A	uc004euk.1	-	1	441	c.414C>T	c.(412-414)GAC>GAT	p.D138D		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	138										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CGGCCTCCTTGTCCCGCATGA	0.652												
HS6ST2	90161	broad.mit.edu	37	X	132091108	132091108	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:132091108G>A	uc011mve.1	-	3	1091	c.675C>T	c.(673-675)GGC>GGT	p.G225G	HS6ST2_uc011mvb.1_Silent_p.G79G|HS6ST2_uc011mvc.1_Silent_p.G79G|HS6ST2_uc011mvd.1_Silent_p.G225G	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	225	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					TCAGGTCATCGCCCTTGATGT	0.627												
RBMX	27316	broad.mit.edu	37	X	135956553	135956553	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:135956553A>T	uc004fae.1	-	9	1134	c.924T>A	c.(922-924)AGT>AGA	p.S308R	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.1_Missense_Mutation_p.S269R|RBMX_uc004faf.1_Missense_Mutation_p.S169R|RBMX_uc010nsf.1_Missense_Mutation_p.S269R|RBMX_uc004fag.1_Missense_Mutation_p.S180R	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	308						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CATCATAGCGACTGCTTCCAC	0.507												
FGF13	2258	broad.mit.edu	37	X	137717759	137717759	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:137717759T>C	uc004fam.2	-	4	1122	c.460A>G	c.(460-462)ACA>GCA	p.T154A	FGF13_uc004fan.2_Missense_Mutation_p.T101A|FGF13_uc011mwi.1_Missense_Mutation_p.T135A|FGF13_uc004faq.2_Missense_Mutation_p.T164A|FGF13_uc004far.2_Missense_Mutation_p.T135A|FGF13_uc011mwj.1_Missense_Mutation_p.T164A|FGF13_uc011mwk.1_Missense_Mutation_p.T108A	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	154					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)					GATGAATATGTCACATAATAA	0.378												
FMR1	2332	broad.mit.edu	37	X	147019098	147019098	+	Silent	SNP	T	T	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:147019098T>C	uc010nst.2	+	11	1293	c.1104T>C	c.(1102-1104)CCT>CCC	p.P368P	FMR1_uc004fcj.2_Silent_p.P366P|FMR1_uc004fck.3_Silent_p.P368P|FMR1_uc004fcl.3_Silent_p.P229P|FMR1_uc011mxa.1_Silent_p.P36P	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	368					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					tttctcaacctaacagtacaa	0.204									Fragile_X_syndrome			
PRRG3	79057	broad.mit.edu	37	X	150869231	150869231	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:150869231G>A	uc004few.1	+	4	812	c.422G>A	c.(421-423)AGC>AAC	p.S141N		NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3	141	Cytoplasmic (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGTGCATAGCCAAGGGGAG	0.687												
ZNF185	7739	broad.mit.edu	37	X	152135749	152135749	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:152135749A>C	uc010ntv.1	+	20	1872	c.1835A>C	c.(1834-1836)AAG>ACG	p.K612T	ZNF185_uc011myg.1_Missense_Mutation_p.K644T|ZNF185_uc011myh.1_Missense_Mutation_p.K615T|ZNF185_uc011myi.1_Missense_Mutation_p.K583T|ZNF185_uc011myj.1_Missense_Mutation_p.K553T|ZNF185_uc011myk.1_Missense_Mutation_p.K613T|ZNF185_uc004fgw.3_Missense_Mutation_p.K391T|ZNF185_uc004fgu.2_Missense_Mutation_p.K241T|ZNF185_uc004fgv.2_Missense_Mutation_p.K309T|ZNF185_uc004fgx.2_Missense_Mutation_p.K250T	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	612						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGAGAAGAAGCCTCCATGT	0.502												
RENBP	5973	broad.mit.edu	37	X	153209078	153209078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:153209078G>A	uc004fjo.1	-	5	552	c.382C>T	c.(382-384)CAG>TAG	p.Q128*	RENBP_uc011mzh.1_Nonsense_Mutation_p.Q128*	NM_002910	NP_002901	P51606	RENBP_HUMAN	renin binding protein	128					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			ovary(1)|pancreas(1)	2	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)				N-Acetyl-D-glucosamine(DB00141)	ATGGTTCGCTGCACCTTGACC	0.607												
HCFC1	3054	broad.mit.edu	37	X	153218045	153218045	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:153218045G>T	uc004fjp.2	-	19	5390	c.4862C>A	c.(4861-4863)GCT>GAT	p.A1621D		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1621					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGGGCAGCTGCTTCTGC	0.697												
FLNA	2316	broad.mit.edu	37	X	153591075	153591075	+	Silent	SNP	G	G	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:153591075G>A	uc004fkk.2	-	16	2607	c.2358C>T	c.(2356-2358)GCC>GCT	p.A786A	FLNA_uc010nuu.1_Silent_p.A786A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	786	Filamin 6.				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			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)					TGGGCTCGTGGGCCTTGAGCC	0.662												
EIF1AY	9086	broad.mit.edu	37	Y	22741514	22741514	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrY:22741514C>T	uc004fuk.2	+	2	184	c.37C>T	c.(37-39)CGC>TGC	p.R13C	EIF1AY_uc004ful.2_RNA	NM_004681	NP_004672	O14602	IF1AY_HUMAN	eukaryotic translation initiation factor 1A, Y	13						cytoplasm	protein binding|translation initiation factor activity				0						TAAAAACAGGCGCAGGGGTAA	0.274												
SEC13	6396	broad.mit.edu	37	3	10357003	10357004	+	Splice_Site	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:10357003_10357004insC	uc003bvn.2	-	3	283	c.164_splice	c.e3+1	p.G55_splice	SEC13_uc003bvl.2_5'Flank|SEC13_uc003bvm.2_Splice_Site_p.G41_splice|SEC13_uc003bvp.2_Splice_Site_p.G58_splice|SEC13_uc003bvo.2_Splice_Site_p.G101_splice|SEC13_uc003bvq.1_Splice_Site_p.G41_splice|SEC13_uc003bvr.1_Splice_Site_p.G41_splice|SEC13_uc011aul.1_Splice_Site_p.G55_splice	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1						COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			ovary(1)	1						GCCAGCACTTACCCCCTGAGGT	0.579												
COL11A1	1301	broad.mit.edu	37	1	103540339	103540339	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:103540338_103540338TA>T	uc001dum.3	-	4	807	c.489_splice	c.e4-1	p.K163_splice	COL11A1_uc001dul.3_Splice_Site_p.K163_splice|COL11A1_uc001dun.3_Splice_Site_p.K163_splice|COL11A1_uc009weh.3_Splice_Site_p.K163_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	163	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CGATGCCACCTAAAAAAGACA	0.358												
CEBPZ	10153	broad.mit.edu	37	2	37430154	37430154	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:37430153_37430153TA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATT	0.269												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					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)			TCTACAGAACTGGGGGGGGAA	0.348												
RETSAT	54884	broad.mit.edu	37	2	85571291	85571291	+	Splice_Site	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:85571290_85571290TG>T	uc002spd.3	-	9	1558	c.1367_splice	c.e9-1	p.G456_splice	RETSAT_uc010fge.3_Intron|RETSAT_uc010ysm.2_Splice_Site_p.G395_splice	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	456					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGGACCGGCCTGGGGATCAGA	0.617												
RBM43	375287	broad.mit.edu	37	2	152112048	152112048	+	Splice_Site	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:152112047_152112047CT>C	uc002txh.3	-	2	362	c.214_splice	c.e2+1	p.V72_splice		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCT	0.284												
ATF2	1386	broad.mit.edu	37	2	175982979	175982979	+	Splice_Site	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:175982978_175982978CT>C	uc002ujl.3	-	6	580	c.318_splice	c.e6+1	p.K106_splice	ATF2_uc002ujv.3_Splice_Site|ATF2_uc002ujm.3_Splice_Site_p.K48_splice|ATF2_uc002uju.3_Splice_Site|ATF2_uc002ujn.3_Splice_Site|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Splice_Site|ATF2_uc002ujq.3_Splice_Site_p.K106_splice|ATF2_uc010fqu.3_Splice_Site_p.K88_splice|ATF2_uc002ujr.3_Splice_Site|ATF2_uc002ujs.3_Splice_Site_p.K48_splice|ATF2_uc002ujt.3_Splice_Site|ATF2_uc010fqv.3_Splice_Site_p.K57_splice|ATF2_uc002ujw.1_Splice_Site_p.K48_splice|ATF2_uc002ujx.1_Splice_Site|ATF2_uc002ujy.1_Splice_Site_p.K106_splice	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	106					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			TTACAACATACTTTTTTAATG	0.303												
NDUFS1	4719	broad.mit.edu	37	2	207018409	207018409	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:207018408_207018408TA>T	uc010ziq.2	-	2	100	c.39_splice	c.e2-1	p.I13_splice	NDUFS1_uc002vbe.3_Splice_Site|NDUFS1_uc010zir.2_Splice_Site|NDUFS1_uc010zis.2_Splice_Site|NDUFS1_uc010zit.2_Splice_Site|NDUFS1_uc010ziu.2_Intron	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	0					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	AACATATTGCTAAAAATAAAA	0.299												
SEC13	6396	broad.mit.edu	37	3	10357004	10357005	+	Splice_Site	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:10357003_10357004A>AC	uc003bvn.3	-	3	286	c.164_splice	c.e3+1	p.G55_splice	SEC13_uc003bvl.3_5'Flank|SEC13_uc003bvm.3_Splice_Site_p.G41_splice|SEC13_uc003bvp.3_Splice_Site_p.G58_splice|SEC13_uc003bvo.3_Splice_Site_p.G101_splice|SEC13_uc003bvr.1_Splice_Site_p.G41_splice|SEC13_uc011aul.2_Splice_Site_p.G55_splice	NM_183352	NP_001129704	P55735	SEC13_HUMAN	Homo sapiens SEC13 homolog (S. cerevisiae) (SEC13), transcript variant 1, mRNA.	55					COPII vesicle coating|intracellular protein transport|mRNA transport|mitotic prometaphase|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	ER to Golgi transport vesicle membrane|Nup107-160 complex|cytosol|endoplasmic reticulum membrane	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GCCAGCACTTACCCCCTGAGGT	0.579												
ANKRD28	23243	broad.mit.edu	37	3	15756166	15756167	+	Splice_Site	INS	-	-	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:15756165_15756166T>TG	uc003caj.1	-	9	1050	c.907_splice	c.e9-1	p.S303_splice	ANKRD28_uc003cai.1_Splice_Site_p.S149_splice|ANKRD28_uc011avz.1_Splice_Site_p.S149_splice|ANKRD28_uc003cak.1_Splice_Site|ANKRD28_uc011awa.1_Splice_Site|ANKRD28_uc003cal.1_Splice_Site_p.S333_splice|ANKRD28_uc003cam.2_Splice_Site_p.S336_splice	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	303						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATCTTTACTCTGGGGGGGGAAG	0.361												
FAM55C	91775	broad.mit.edu	37	3	101525973	101525973	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:101525972_101525972TA>T	uc003dvn.3	+	6	1559	c.922_splice	c.e6+2	p.E308_splice	FAM55C_uc010hpn.3_Splice_Site_p.E308_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	308						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GAATAAAAGGTAAAAAAAAGA	0.353												
SLCO6A1	133482	broad.mit.edu	37	5	101755728	101755728	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:101755727_101755727TA>T	uc003knn.3	-	8	1449	c.1277_splice	c.e8-1	p.G426_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	426						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		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)		AAACAAGTCCTAAAAAAAAGG	0.343												
SNX14	57231	broad.mit.edu	37	6	86223616	86223616	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:86223615_86223615TA>T	uc003pkr.3	-	26	2751	c.2558_splice	c.e26-1	p.D853_splice	SNX14_uc003pkp.3_Splice_Site_p.D716_splice|SNX14_uc003pkq.3_Splice_Site_p.D459_splice|SNX14_uc011dzg.2_Splice_Site_p.D801_splice|SNX14_uc003pks.3_Splice_Site_p.D800_splice|SNX14_uc003pkt.3_Splice_Site_p.D844_splice	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	853					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ATATAGCATCTAAAAAAGAGT	0.308												
FBXL4	26235	broad.mit.edu	37	6	99374939	99374939	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:99374938_99374938TA>T	uc003ppf.1	-	3	287	c.-71_splice	c.e3-1		FBXL4_uc003ppg.1_Splice_Site|FBXL4_uc003pph.1_Splice_Site	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA.						ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		AAGGATGTTCTAAAAAAATGA	0.358												
COL28A1	340267	broad.mit.edu	37	7	7557426	7557427	+	Splice_Site	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:7557425_7557426A>AC	uc003src.1	-	7	972	c.855_splice	c.e7+1	p.G285_splice	COL28A1_uc011jxe.1_Splice_Site|COL28A1_uc003srd.3_Intron	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	285					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGTGTACATACCCCTGGACCT	0.436												
THSD7A	221981	broad.mit.edu	37	7	11514198	11514198	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:11514197_11514197TA>T	uc021zzo.1	-	8	2270	c.2018_splice	c.e8-1	p.G673_splice	THSD7A_uc021zzn.1_Splice_Site_p.G673_splice	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	673	TSP type-1 6.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GAATTCCACCTAAAAACATGG	0.433										HNSCC(18;0.044)		
OXR1	55074	broad.mit.edu	37	8	107723021	107723021	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:107723020_107723020TA>T	uc011lht.2	+	9	1895	c.1796_splice	c.e9+2	p.R599_splice	OXR1_uc022azp.1_Splice_Site_p.R598_splice|OXR1_uc003ymf.3_Splice_Site_p.R598_splice|OXR1_uc011lhu.2_Splice_Site_p.R591_splice|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Splice_Site_p.R296_splice	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	599					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ACAAGAAAGGTAAAAAACCCA	0.333												
RNF38	152006	broad.mit.edu	37	9	36342424	36342424	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:36342423_36342423TA>T	uc003zzh.3	-	11	1577	c.1386_splice	c.e11-1	p.L462_splice	RNF38_uc003zzi.3_Splice_Site_p.L412_splice|RNF38_uc003zzj.3_Splice_Site_p.L379_splice|RNF38_uc003zzk.3_Splice_Site_p.L379_splice|RNF38_uc003zzl.3_Splice_Site_p.L386_splice|RNF38_uc003zzm.3_Splice_Site_p.L379_splice	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	462							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACTACACACCTAAAAAAAGCA	0.358												
TPRN	286262	broad.mit.edu	37	9	140093439	140093441	+	Splice_Site	DEL	CTT	CTT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:140093438_140093440CCTT>C	uc004clt.3	-	1	1725	c.1725_splice	c.e1+1	p.K575_splice	TPRN_uc004clu.3_Splice_Site_p.K575_splice	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	575					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CCACCACTGACCTTCTTTCTTGA	0.626												
COPB1	1315	broad.mit.edu	37	11	14510133	14510133	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:14510132_14510132TA>T	uc001mlh.2	-	6	853	c.607_splice	c.e6-1	p.D203_splice	COPB1_uc001mli.2_Splice_Site_p.D203_splice|COPB1_uc001mlg.2_Splice_Site_p.D203_splice	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	203					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGCTCGATCCTAAAAAAAATA	0.294												
ACP2	53	broad.mit.edu	37	11	47266285	47266285	+	Splice_Site	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:47266284_47266284AC>A	uc001nei.3	-	7	889	c.772_splice	c.e7+1	p.G258_splice	ACP2_uc010rhe.2_Splice_Site_p.G230_splice|ACP2_uc009ylj.3_Splice_Site_p.G186_splice|ACP2_uc010rhf.2_Splice_Site_p.G226_splice|ACP2_uc010rhg.2_Splice_Site_p.G195_splice|ACP2_uc010rhh.2_Splice_Site_p.G71_splice|ACP2_uc009ylk.2_Splice_Site_p.G225_splice|ACP2_uc010rhi.1_Splice_Site_p.G71_splice	NM_001610	NP_001601	P11117	PPAL_HUMAN	Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNA.	258						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CTTGTCACTCACCCCCCTGAA	0.562												
DRAP1	10589	broad.mit.edu	37	11	65688801	65688801	+	Splice_Site	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65688800_65688800GC>G	uc001ogj.2	+	7	758	c.513_splice	c.e7-1	p.S171_splice	C11orf68_uc001ogi.3_5'Flank|C11orf68_uc009yqv.3_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	Homo sapiens DR1-associated protein 1 (negative cofactor 2 alpha) (DRAP1), mRNA.	171	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		CTGCCCTGCAGCCCCCCGACA	0.667												
DDX6	1656	broad.mit.edu	37	11	118629614	118629614	+	Splice_Site	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:118629613_118629613TG>T	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAG	0.423			T	IGH@	B-NHL							
PLCZ1	89869	broad.mit.edu	37	12	18872569	18872569	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:18872568_18872568TA>T	uc021qvx.1	-	5	559	c.368_splice	c.e5-1	p.V123_splice	PLCZ1_uc001rdv.4_Splice_Site_p.V19_splice|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc009zil.1_Splice_Site	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	123					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTTCCTAACtaaaaaaataa	0.279												
DNAH10	196385	broad.mit.edu	37	12	124284938	124284938	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:124284937_124284937TA>T	uc001uft.4	+	14	2133	c.2108_splice	c.e14+2	p.R703_splice	DNAH10_uc010tav.1_Splice_Site_p.R245_splice|DNAH10_uc010taw.1_Splice_Site_p.R188_splice	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	703	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATTCCTTAGGTAAAAAAATTC	0.363												
TUBGCP3	10426	broad.mit.edu	37	13	113210541	113210541	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:113210540_113210540TA>T	uc001vse.1	-	6	736	c.549_splice	c.e6-1	p.G183_splice	TUBGCP3_uc010tjq.1_Splice_Site_p.G173_splice|TUBGCP3_uc001vsf.3_Splice_Site_p.G183_splice|TUBGCP3_uc001vsg.1_Splice_Site_p.G183_splice	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	183					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TTAGACTGTCTAAAAAAAGAA	0.393												
C14orf149	112849	broad.mit.edu	37	14	59946072	59946072	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333												
PAPLN	89932	broad.mit.edu	37	14	73731295	73731295	+	Splice_Site	DEL	G	G	-	rs10595607		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:73731294_73731294AG>A	uc010ttx.2	+	21	3150	c.2987_splice	c.e21-2	p.G996_splice	PAPLN_uc001xnw.4_Splice_Site_p.G969_splice|PAPLN_uc010arl.3_Splice_Site|PAPLN_uc010ttw.2_Splice_Site|PAPLN_uc010tty.2_Splice_Site_p.G980_splice|PAPLN_uc010arm.3_Splice_Site_p.G195_splice|PAPLN_uc010arn.3_Splice_Site_p.G196_splice	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	996						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCTCATGACAGGGGGTGACA	0.632												
PHLPP2	23035	broad.mit.edu	37	16	71748707	71748708	+	Splice_Site	INS	-	-	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:71748706_71748707T>TA	uc002fax.3	-	1	1	c.-5_splice	c.e1-1		PHLPP2_uc010cgf.3_5'UTR|PHLPP2_uc002fay.1_Splice_Site	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.							cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CATATTTCTCTAAAAAATATCA	0.386												
TAC4	255061	broad.mit.edu	37	17	47918915	47918915	+	Splice_Site	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:47918914_47918914CT>C	uc002ipo.1	-	3	250	c.250_splice	c.e3+1	p.A84_splice	TAC4_uc002ipp.1_Splice_Site_p.A78_splice|TAC4_uc002ipq.1_Splice_Site_p.G78_splice|TAC4_uc002ipr.1_Intron|TAC4_uc002ips.1_Intron	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	Homo sapiens tachykinin 4 (hemokinin) (TAC4), transcript variant alpha, mRNA.	84					regulation of blood pressure	extracellular region				breast(1)|large_intestine(1)|lung(3)	5						CAATACTTACCTTTTTTTCTC	0.552												
APPBP2	10513	broad.mit.edu	37	17	58541474	58541474	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:58541473_58541473TA>T	uc002iys.1	-	6	961	c.673_splice	c.e6-1	p.A225_splice	APPBP2_uc010ddl.1_Splice_Site_p.A154_splice	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	225					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTTGTATGCCTAAAAAAATTA	0.323												
LMAN1	3998	broad.mit.edu	37	18	57021815	57021815	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:57021814_57021814TA>T	uc002lhz.3	-	4	510	c.478_splice	c.e4-1	p.K160_splice	LMAN1_uc010xek.1_Splice_Site_p.K160_splice	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	160	L-type lectin-like.				ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATTATTTTTCTAAAAAAAAGG	0.289												
SERPINB8	5271	broad.mit.edu	37	18	61652328	61652328	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:61652327_61652327GA>G	uc002ljv.3	+	6	737	c.568_splice	c.e6-1	p.E190_splice	SERPINB8_uc002ljt.3_Splice_Site_p.E190_splice|SERPINB8_uc002lju.3_Splice_Site_p.E190_splice|SERPINB8_uc010xex.2_Splice_Site_p.E8_splice	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	190					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTTCCGTTAGGAAAAAAAGAC	0.373												
CPAMD8	27151	broad.mit.edu	37	19	17081703	17081703	+	Splice_Site	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:17081702_17081702TG>T	uc002nfb.3	-	18	2386	c.2354_splice	c.e18+1	p.R785_splice		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	738						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCGTTACCTGGGGGGGTGC	0.572												
C1QA	712	broad.mit.edu	37	1	22964234	22964234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:22964234delG	uc001bfy.2	+	2	210	c.125delG	c.(124-126)CGGfs	p.R42fs	C1QA_uc001bfz.2_Frame_Shift_Del_p.R42fs	NM_015991	NP_057075	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	42	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	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)	CCTGGCAGACGGGGGCGGCCA	0.657												
LDB1	8861	broad.mit.edu	37	10	103870407	103870407	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:103870407delC	uc009xwz.2	-	6	747	c.404delG	c.(403-405)GGTfs	p.G135fs	LDB1_uc001kuk.3_Frame_Shift_Del_p.G99fs|LDB1_uc001kul.3_Frame_Shift_Del_p.G99fs	NM_001113407	NP_001106878	Q86U70	LDB1_HUMAN	LIM domain binding 1 isoform 1	135					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			large_intestine(1)	1		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CTCCGTAGCACCCCCCTCAAA	0.562												
MUC6	4588	broad.mit.edu	37	11	1024987	1024988	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:1024987_1024988delCC	uc001lsw.2	-	24	3132_3133	c.3081_3082delGG	c.(3079-3084)TTGGTGfs	p.L1027fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1027_1028	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)		CACGAGTTCACCAACTCCAGCT	0.624												
MEN1	4221	broad.mit.edu	37	11	64572093	64572093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:64572093delG	uc001obj.2	-	10	1634	c.1561delC	c.(1561-1563)CGGfs	p.R521fs	MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Frame_Shift_Del_p.R521fs|MEN1_uc001obl.2_Frame_Shift_Del_p.R481fs|MEN1_uc001obm.2_Frame_Shift_Del_p.R516fs|MEN1_uc001obn.2_Frame_Shift_Del_p.R521fs|MEN1_uc001obo.2_Frame_Shift_Del_p.R521fs|MEN1_uc001obp.2_Frame_Shift_Del_p.R516fs|MEN1_uc001obq.2_Frame_Shift_Del_p.R521fs|MEN1_uc001obr.2_Frame_Shift_Del_p.R521fs	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	521					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.R516fs*15(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						GGAGGCTTCCGGGGGGGTCCT	0.716			D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1			
C1R	715	broad.mit.edu	37	12	7242010	7242010	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:7242010delG	uc010sfy.1	-	5	706	c.647delC	c.(646-648)CCTfs	p.P216fs	C1R_uc010sfz.1_Frame_Shift_Del_p.P230fs|C1R_uc010sga.1_Frame_Shift_Del_p.P182fs	NM_001733	NP_001724	P00736	C1R_HUMAN	complement component 1, r subcomponent	216	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity				0					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)	GCGCAGGTCAGGGGGGTAGGA	0.597												
AGAP2	116986	broad.mit.edu	37	12	58124639	58124639	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:58124639delC	uc001spq.2	-	11	2243	c.2243delG	c.(2242-2244)GGCfs	p.G748fs	AGAP2_uc001spp.2_Frame_Shift_Del_p.G748fs|AGAP2_uc001spr.2_Frame_Shift_Del_p.G412fs	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	748	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						GGCTGAGGGGCCAAAGGCAGA	0.572												
C14orf180	400258	broad.mit.edu	37	14	105054103	105054103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:105054103delC	uc001yow.1	+	3	430	c.129delC	c.(127-129)TGCfs	p.C43fs	C14orf180_uc010tyh.1_Frame_Shift_Del_p.C43fs|C14orf180_uc010awy.1_Frame_Shift_Del_p.C43fs	NM_001008404	NP_001008404	Q8N912	CN180_HUMAN	hypothetical protein LOC400258	43						integral to membrane					0		Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		ACAGGAAGTGCCCCCCCTCCA	0.701												
INF2	64423	broad.mit.edu	37	14	105174185	105174185	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:105174185delC	uc001ypb.2	+	8	1724	c.1581delC	c.(1579-1581)AGCfs	p.S527fs	INF2_uc010tyi.1_Frame_Shift_Del_p.S527fs|INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCACCTGCAGCCCCCCCGTGG	0.562												
IGF1R	3480	broad.mit.edu	37	15	99500476	99500476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:99500476delC	uc002bul.2	+	21	3959	c.3909delC	c.(3907-3909)GTCfs	p.V1303fs	IGF1R_uc010bon.2_Frame_Shift_Del_p.V1302fs	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1303	Cytoplasmic (Potential).				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TGGAGAGCGTCCCCCTGGACC	0.672												
CD79A	973	broad.mit.edu	37	19	42383610	42383610	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:42383610delC	uc002orv.2	+	3	570	c.385delC	c.(385-387)CCCfs	p.P129fs	CD79A_uc002oru.2_Frame_Shift_Del_p.P91fs	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	129	Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3						TGCAGAGCCGCCCCCCAGGCC	0.677			O|S		DLBCL							
KIR2DL3	3804	broad.mit.edu	37	19	55263199	55263199	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:55263199delA	uc002qgv.2	+	6	832	c.814delA	c.(814-816)AAAfs	p.K272fs	KIR2DL3_uc002qgx.2_Frame_Shift_Del_p.K272fs|KIR2DL3_uc002qgy.2_Frame_Shift_Del_p.K174fs|KIR2DL3_uc010erw.1_Frame_Shift_Del_p.K272fs|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	272	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)		GTGCTGCAACAAAAAAAGTAA	0.438												
ITGA6	3655	broad.mit.edu	37	2	173368931	173368931	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:173368931delA	uc002uhp.1	+	25	3430	c.3227delA	c.(3226-3228)GAAfs	p.E1076fs	ITGA6_uc010zdy.1_3'UTR|ITGA6_uc002uho.1_3'UTR|ITGA6_uc010fqm.1_3'UTR	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	1115	Cytoplasmic (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATAACCTTGAAAAAAAACAG	0.408												
NPEPL1	79716	broad.mit.edu	37	20	57290340	57290340	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:57290340delG	uc010zzs.1	+	12	1625	c.1530delG	c.(1528-1530)GAGfs	p.E510fs	NPEPL1_uc010zzr.1_Frame_Shift_Del_p.E462fs|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Frame_Shift_Del_p.E482fs|NPEPL1_uc002xzp.2_3'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	510					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)			ATGTCGAGGAGGGGGACCTGG	0.617												
SEC13	6396	broad.mit.edu	37	3	10357003	10357004	+	Splice_Site	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:10357003_10357004insC	uc003bvn.2	-	3	283	c.164_splice	c.e3+1	p.G55_splice	SEC13_uc003bvl.2_5'Flank|SEC13_uc003bvm.2_Splice_Site_p.G41_splice|SEC13_uc003bvp.2_Splice_Site_p.G58_splice|SEC13_uc003bvo.2_Splice_Site_p.G101_splice|SEC13_uc003bvq.1_Splice_Site_p.G41_splice|SEC13_uc003bvr.1_Splice_Site_p.G41_splice|SEC13_uc011aul.1_Splice_Site_p.G55_splice	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1						COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			ovary(1)	1						GCCAGCACTTACCCCCTGAGGT	0.579												
MLH1	4292	broad.mit.edu	37	3	37053550	37053550	+	Frame_Shift_Del	DEL	G	G	-	rs2308317	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:37053550delG	uc003cgl.2	+	8	697	c.637delG	c.(637-639)GTGfs	p.V213fs	MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Frame_Shift_Del_p.V213fs|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_Frame_Shift_Del_p.V115fs|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_5'UTR|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_5'UTR|MLH1_uc010hgk.2_5'UTR|MLH1_uc010hgl.1_5'Flank	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	213					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						TGCCTCAACCGTGGACAATAT	0.383		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
SCN11A	11280	broad.mit.edu	37	3	38949543	38949543	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:38949543delT	uc011ays.1	-	10	1569	c.1370delA	c.(1369-1371)AAGfs	p.K457fs		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	457					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAGCTTTCTCTTTTTTGGGGT	0.388												
COL7A1	1294	broad.mit.edu	37	3	48602622	48602622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:48602622delG	uc003ctz.2	-	116	8541	c.8540delC	c.(8539-8541)CCTfs	p.P2847fs	UCN2_uc003cty.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2847	Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCATCCTCAGGGGGTACCCG	0.592												
AMT	275	broad.mit.edu	37	3	49456495	49456495	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:49456495delG	uc003cww.2	-	7	915	c.786delC	c.(784-786)GACfs	p.D262fs	AMT_uc011bcn.1_Intron|AMT_uc003cwx.2_Frame_Shift_Del_p.D262fs|AMT_uc011bco.1_Frame_Shift_Del_p.D218fs|AMT_uc003cwy.2_Frame_Shift_Del_p.D214fs|AMT_uc011bcp.1_Frame_Shift_Del_p.D165fs|AMT_uc011bcq.1_Frame_Shift_Del_p.D206fs	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	262					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGCGCAGGCTGTCCCTGGCTG	0.587												
SLITRK3	22865	broad.mit.edu	37	3	164906625	164906625	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:164906625delA	uc003fej.3	-	2	2438	c.1994delT	c.(1993-1995)TTCfs	p.F665fs	SLITRK3_uc003fek.2_Frame_Shift_Del_p.F665fs	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	665	Helical; (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						GACTGCTGAGAAAAACAGAAC	0.532										HNSCC(40;0.11)		
HTT	3064	broad.mit.edu	37	4	3237477	3237477	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:3237477delG	uc011bvq.1	+	64	8908	c.8763delG	c.(8761-8763)CTGfs	p.L2921fs		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2919					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGGCGGCTCTGGGCCTGATGC	0.602												
TRIM74	378108	broad.mit.edu	37	7	75034218	75034218	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:75034218delG	uc003udc.1	+	4	792	c.592delG	c.(592-594)GGGfs	p.G198fs	TRIM74_uc010ldc.2_Frame_Shift_Del_p.G198fs|TRIM74_uc010ldd.2_Frame_Shift_Del_p.G198fs	NM_198924	NP_944606	Q86UV6	TRI74_HUMAN	tripartite motif-containing 73	198						intracellular	zinc ion binding				0						GGAGGGGATAGGGGGTCACAC	0.677												
LANCL3	347404	broad.mit.edu	37	X	37431309	37431309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:37431309delG	uc011mkd.1	+	1	488	c.186delG	c.(184-186)CAGfs	p.Q62fs	LANCL3_uc004ddp.1_Frame_Shift_Del_p.Q62fs	NM_198511	NP_940913	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3	62							catalytic activity				0						GCGCCTGCCAGGGGGGGCTTT	0.721												
KDM5C	8242	broad.mit.edu	37	X	53246393	53246393	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:53246393delG	uc004drz.2	-	5	1122	c.589delC	c.(589-591)CTAfs	p.L197fs	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Frame_Shift_Del_p.L130fs|KDM5C_uc004dsa.2_Frame_Shift_Del_p.L196fs	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	197					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						GACTGTCGTAGGGGGATGCTG	0.527			N|F|S		clear cell renal carcinoma							
WNK3	65267	broad.mit.edu	37	X	54228568	54228568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:54228568delT	uc004dtd.1	-	22	5197	c.4758delA	c.(4756-4758)AAAfs	p.K1586fs	WNK3_uc004dtc.1_Frame_Shift_Del_p.K1643fs	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3 isoform 2	1586					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						TGAACATCCCTTTTTTACTGG	0.393												
UBQLN2	29978	broad.mit.edu	37	X	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:56591874delC	uc004dus.2	+	1	1803	c.1568delC	c.(1567-1569)GCCfs	p.A523fs	UBQLN2_uc011moq.1_Intron	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	11.|12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						GGCCCTGCAGCCCCCCCTGGC	0.642												
UPF3B	65109	broad.mit.edu	37	X	118975216	118975217	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:118975216_118975217delCA	uc004erz.1	-	7	706_707	c.629_630delTG	c.(628-630)ATGfs	p.M210fs	UPF3B_uc004esa.1_Frame_Shift_Del_p.M210fs	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	210	Sufficient for association with EJC core.|Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						tttcttctCTCATTCTCTAGAA	0.183												
BCORL1	63035	broad.mit.edu	37	X	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-	rs137862942		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:129190011delC	uc004evb.1	+	13	5150	c.5036delC	c.(5035-5037)TCCfs	p.S1679fs	BCORL1_uc004evc.1_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GACGACAGATCCCCCCCAGGC	0.602												
PASD1	139135	broad.mit.edu	37	X	150842425	150842425	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:150842425delC	uc004fev.3	+	15	2274	c.1942delC	c.(1942-1944)CCCfs	p.P648fs		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	648						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GTATCAAGGGCCCCCCGTGAA	0.458												
KIF1B	23095	broad.mit.edu	37	1	10425169	10425171	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:10425168_10425170AAGG>A	uc001aqx.4	+	41	4579_4581	c.4377_4379AAGG>A	c.(4375-4380)agaagg>agAg	p.1459_1460RR>R	KIF1B_uc001aqw.4_In_Frame_Del_p.1413_1414RR>R|KIF1B_uc001aqy.3_In_Frame_Del_p.1433_1434RR>R|KIF1B_uc001aqz.3_In_Frame_Del_p.1459_1460RR>R|KIF1B_uc001ara.3_In_Frame_Del_p.1419_1420RR>R|KIF1B_uc001arb.3_In_Frame_Del_p.1445_1446RR>R	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1459					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GTATGCAGAGAAGGAGAAGAAAA	0.399												
FAM54B	56181	broad.mit.edu	37	1	26156309	26156310	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:26156308_26156309CAG>C	uc010oet.2	+	5	993_994	c.859_860CAG>C	c.(859-861)cagfs	p.Q287fs	FAM54B_uc001bkq.4_Frame_Shift_Del_p.Q254fs|FAM54B_uc001bkr.4_3'UTR|FAM54B_uc009vrz.3_Frame_Shift_Del_p.Q239fs|FAM54B_uc001bks.4_Frame_Shift_Del_p.Q254fs|FAM54B_uc001bkt.4_Frame_Shift_Del_p.Q254fs|FAM54B_uc001bku.4_3'UTR|FAM54B_uc001bkv.4_Frame_Shift_Del_p.Q157fs			Q9H019	FA54B_HUMAN	Homo sapiens family with sequence similarity 54, member B (FAM54B), transcript variant 2, mRNA.	254								p.Q254*(1)		endometrium(2)|kidney(2)|large_intestine(2)|pancreas(1)|prostate(1)	8		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAATGAAACAGAGTCAAGAT	0.441												
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ZDHHC18	84243	broad.mit.edu	37	1	27158994	27158996	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:27158993_27158995CTCT>C	uc001bnb.3	+	1	486_488	c.391_393CTCT>C	c.(391-393)ctc>C	p.L131del	BC016143_uc021ojq.1_Intron|ZDHHC18_uc010ofh.1_5'UTR	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	Homo sapiens zinc finger, DHHC-type containing 18 (ZDHHC18), mRNA.	131						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CGCTGCCATCCTCTTCTTCTTCG	0.596												
WDTC1	23038	broad.mit.edu	37	1	27622888	27622889	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:27622887_27622888C>CG	uc009vst.2	+	9	1479_1480	c.944_945C>CG	c.(943-945)tcgfs	p.S315fs	WDTC1_uc001bno.3_Frame_Shift_Ins_p.S315fs|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'UTR	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	315							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TGCCACTCCTCGGGGGGTAAGT	0.520												
PTPRU	10076	broad.mit.edu	37	1	29638197	29638197	+	Frame_Shift_Del	DEL	G	G	-	rs142752020	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:29638196_29638196CG>C	uc001bru.3	+	21	3156	c.3027_3027CG>C	c.(3025-3027)tacfs	p.Y1009fs	PTPRU_uc009vtq.3_Frame_Shift_Del_p.Y1005fs|PTPRU_uc009vtr.3_Frame_Shift_Del_p.Y996fs|PTPRU_uc001brw.3_Frame_Shift_Del_p.Y999fs	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1009	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CAGACACCTACGGGGACATCA	0.607												
SERINC2	347735	broad.mit.edu	37	1	31902257	31902257	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:31902256_31902256AC>A	uc021okm.1	+	8	1184	c.911_911AC>A	c.(910-912)aacfs	p.N304fs	SERINC2_uc010ogg.2_Frame_Shift_Del_p.N299fs|SERINC2_uc001bst.3_Frame_Shift_Del_p.N295fs|SERINC2_uc001bsu.3_Frame_Shift_Del_p.N240fs|SERINC2_uc010ogh.2_Frame_Shift_Del_p.N299fs	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	295						integral to membrane		p.N304N(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CAGAAATGCAACCCCCATTTG	0.612												
HCRTR1	3061	broad.mit.edu	37	1	32084832	32084832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:32084831_32084831TC>T	uc009vtx.2	+	2	423	c.38_38TC>T	c.(37-39)gtcfs	p.V13fs	HCRTR1_uc001btc.4_5'UTR|HCRTR1_uc001btd.2_Frame_Shift_Del_p.V13fs|HCRTR1_uc010ogl.2_Frame_Shift_Del_p.V13fs	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	13					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CAGATGGGGGTCCCCCCTGGC	0.607												
KIAA0319L	79932	broad.mit.edu	37	1	35919162	35919162	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:35919161_35919161GT>G	uc001byx.3	-	11	2168	c.1910_1910AC>C	c.(1909-1911)acafs	p.T637fs	KIAA0319L_uc001byw.3_Frame_Shift_Del_p.T74fs|KIAA0319L_uc010ohv.1_Frame_Shift_Del_p.T279fs	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	637	PKD 4.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACTCACTGTGTTTTTTCCCA	0.423												
HIVEP3	59269	broad.mit.edu	37	1	42048809	42048809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:42048808_42048808TG>T	uc001cgz.4	-	3	2874	c.1661_1661CA>A	c.(1660-1662)cacfs	p.H554fs	HIVEP3_uc001cha.4_Frame_Shift_Del_p.H554fs|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	554	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAAGGGGTGGTGGGGGGTGCT	0.627												
DMBX1	127343	broad.mit.edu	37	1	46978015	46978016	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:46978014_46978015GGT>G	uc001cpx.3	+	3	1012_1013	c.997_998GGT>G	c.(997-999)ggtfs	p.G333fs	DMBX1_uc001cpw.3_Frame_Shift_Del_p.G328fs	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	333					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGCCCACCAGGGTGTGTGGGGG	0.639												
STIL	6491	broad.mit.edu	37	1	47746581	47746581	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:47746580_47746580TG>T	uc001crd.1	-	11	1705	c.1550_1550CA>A	c.(1549-1551)catfs	p.H517fs	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.H470fs|STIL_uc010omo.1_Frame_Shift_Del_p.H517fs|STIL_uc001crc.1_Frame_Shift_Del_p.H517fs|STIL_uc001cre.1_Frame_Shift_Del_p.H517fs|STIL_uc001crf.1_Frame_Shift_Del_p.H130fs|STIL_uc001crg.1_Frame_Shift_Del_p.H470fs	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	517					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTTCCTGGTATGGGGGTTCCC	0.408												
CLCA4	22802	broad.mit.edu	37	1	87026013	87026013	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:87026012_87026012GA>G	uc009wcs.3	+	2	463	c.419_419GA>G	c.(418-420)ggafs	p.G140fs	CLCA4_uc009wct.3_5'UTR|CLCA4_uc009wcu.3_Intron	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	140						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTCTACTTGGAAAAAAACAA	0.398												
GBP6	163351	broad.mit.edu	37	1	89834233	89834234	+	In_Frame_Ins	INS	-	-	GGC			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:89834232_89834233T>TGGC	uc001dnf.2	+	1	396_397	c.122_123T>TGGC	c.(121-123)gtg>gTGGC	p.V41V	GBP6_uc010ost.1_Intron	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	41	Poly-Val.						GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GTGGTGGTGGTGGCCATTGTAG	0.485												
COL11A1	1301	broad.mit.edu	37	1	103474067	103474067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:103474066_103474066GC>G	uc001dum.3	-	14	1990	c.1672_1672GC>C	c.(1672-1674)cctfs	p.P558fs	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Frame_Shift_Del_p.P546fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.P507fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.P430fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	546	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATGAACCAGGCCCCCCCTAT	0.368												
COL11A1	1301	broad.mit.edu	37	1	103540339	103540339	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:103540338_103540338TA>T	uc001dum.3	-	4	807	c.489_splice	c.e4-1	p.K163_splice	COL11A1_uc001dul.3_Splice_Site_p.K163_splice|COL11A1_uc001dun.3_Splice_Site_p.K163_splice|COL11A1_uc009weh.3_Splice_Site_p.K163_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	163	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CGATGCCACCTAAAAAAGACA	0.358												
AKNAD1	254268	broad.mit.edu	37	1	109377583	109377583	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:109377582_109377582TG>T	uc001dwa.3	-	7	1902	c.1633_1633CA>A	c.(1633-1635)aacfs	p.N545fs	AKNAD1_uc010ovb.2_Frame_Shift_Del_p.N252fs|AKNAD1_uc001dwb.3_Intron	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	545										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGCTCCTCGTTGGGGGCCTCC	0.662												
AMPD2	271	broad.mit.edu	37	1	110167985	110167985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:110167984_110167984GC>G	uc009wfh.1	+	2	855	c.313_313GC>G	c.(313-315)gccfs	p.A105fs	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Frame_Shift_Del_p.A24fs|AMPD2_uc001dyc.1_Frame_Shift_Del_p.A105fs|AMPD2_uc010ovr.1_Intron|AMPD2_uc010ovs.1_5'UTR|AMPD2_uc001dyd.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	105					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCGGGCCCCGCCCCCTGCCT	0.672												
BCAS2	10286	broad.mit.edu	37	1	115118337	115118337	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:115118336_115118336AT>A	uc001efa.3	-	3	347	c.294_294AT>T	c.(292-294)aatfs	p.N98fs	DENND2C_uc001eez.3_Non-coding_Transcript	NM_005872	NP_005863	O75934	SPF27_HUMAN	Homo sapiens breast carcinoma amplified sequence 2 (BCAS2), mRNA.	98					RNA splicing, via transesterification reactions|mRNA processing	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTAATGTCATTTTTTTGAC	0.378												
SYCP1	6847	broad.mit.edu	37	1	115430252	115430252	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:115430251_115430251GA>G	uc001efr.3	+	14	1404	c.1195_1195GA>G	c.(1195-1197)gaafs	p.E399fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Del_p.E399fs|SYCP1_uc009wgw.3_Frame_Shift_Del_p.E399fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	399					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAAGATTGGAAAAAAATGA	0.264												
ANKRD34A	284615	broad.mit.edu	37	1	145474257	145474258	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:145474256_145474257CCT>C	uc021ouy.1	+	0	928_929	c.928_929CCT>C	c.(928-930)cctfs	p.P310fs	LIX1L_uc001enr.3_5'Flank|ANKRD34A_uc001enq.1_Frame_Shift_Del_p.P310fs	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	310	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGCGGGGGTCCTCTCTCTCGC	0.649												
GPR161	23432	broad.mit.edu	37	1	168054869	168054870	+	Frame_Shift_Ins	INS	-	-	C	rs147976800	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:168054868_168054869G>GC	uc010pln.2	-	6	2084_2085	c.1550_1551C>GC	c.(1549-1551)ggcfs	p.G517fs	GPR161_uc001gfb.3_Frame_Shift_Ins_p.G365fs|GPR161_uc001gfc.3_Frame_Shift_Ins_p.G497fs|GPR161_uc010pll.2_Frame_Shift_Ins_p.G407fs|GPR161_uc010plm.2_Frame_Shift_Ins_p.G383fs|GPR161_uc009wvo.3_Frame_Shift_Ins_p.G514fs|GPR161_uc001gfd.3_Frame_Shift_Ins_p.G497fs	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	497					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G497fs*13(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCCGAAGCCGCCCCCCGGGAC	0.584												
TNR	7143	broad.mit.edu	37	1	175334334	175334334	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:175334333_175334333TG>T	uc001gkp.1	-	9	2481	c.2400_2400CA>A	c.(2398-2400)ccafs	p.P800fs	TNR_uc009wwu.1_Frame_Shift_Del_p.P800fs	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	800	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTCTGTCTGCTGGGGGAGATG	0.532												
TDRD5	163589	broad.mit.edu	37	1	179599928	179599929	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:179599927_179599928C>CA	uc010pnp.2	+	6	1516_1517	c.998_999C>CA	c.(997-999)ccafs	p.P333fs	TDRD5_uc021pfm.1_Frame_Shift_Ins_p.P333fs|TDRD5_uc001gnf.2_Frame_Shift_Ins_p.P333fs|TDRD5_uc021pfn.1_Frame_Shift_Ins_p.P333fs|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	333	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAACTATCACCAAAAAAATTAG	0.337												
RGL1	23179	broad.mit.edu	37	1	183881395	183881395	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:183881394_183881394CA>C	uc001gqm.3	+	15	2307	c.1846_1846CA>C	c.(1846-1848)caafs	p.Q616fs	RGL1_uc010pof.1_Frame_Shift_Del_p.Q386fs|RGL1_uc010pog.2_Frame_Shift_Del_p.Q579fs|RGL1_uc010poh.2_Frame_Shift_Del_p.Q579fs|RGL1_uc001gqo.3_Frame_Shift_Del_p.Q581fs|RGL1_uc010poi.2_Frame_Shift_Del_p.Q552fs	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	581					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGATGAGCCTCAAAAAAAGGT	0.488												
ZBTB41	360023	broad.mit.edu	37	1	197145703	197145703	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:197145702_197145702AT>A	uc001gtx.1	-	6	1940	c.1871_1871AT>T	c.(1870-1872)atafs	p.I624fs	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K623E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ACCTGAATGTATTTTTTTGTG	0.308												
UBE2T	29089	broad.mit.edu	37	1	202304853	202304854	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:202304852_202304853GCT>G	uc001gxx.4	-	1	166_167	c.30_31AGC>C	c.(28-33)gagctgfs	p.E10fs		NM_014176	NP_054895	Q9NPD8	UBE2T_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2T (putative) (UBE2T), mRNA.	10					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|skin(1)	5						AACATGTGCAGCTCTCTCTTCA	0.505												
GOLT1A	127845	broad.mit.edu	37	1	204170877	204170879	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:204170876_204170878GGAA>G	uc001has.1	-	2	365_367	c.179_181TTCC>C	c.(178-183)ttccaa>tCaa	p.60_61FQ>S	GOLT1A_uc001hat.1_In_Frame_Del_p.60_61FQ>S	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	60					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TTGTGCCGTTGGAAGAAGAACCA	0.576												
PLEKHA6	22874	broad.mit.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGCGGGGGTACCCCCCGGCG	0.627												
CR1L	1379	broad.mit.edu	37	1	207850873	207850873	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:207850872_207850872TA>T	uc001hga.4	+	1	357	c.236_236TA>T	c.(235-237)ctafs	p.L79fs	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	79	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATCATCTGCCTAAAAAACTCA	0.438												
PLXNA2	5362	broad.mit.edu	37	1	208391176	208391177	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:208391175_208391176T>TG	uc001hgz.3	-	1	850_851	c.92_93A>CA	c.(91-93)ccafs	p.P31fs	PLXNA2_uc001hha.4_Frame_Shift_Ins_p.P85fs	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	31					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCCGGCTGCTGGGGGGGCCAG	0.653												
RAB3GAP2	25782	broad.mit.edu	37	1	220363750	220363750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:220363749_220363749GT>G	uc010puk.1	-	14	1765	c.1601_1601AC>C	c.(1600-1602)acafs	p.T534fs	RAB3GAP2_uc021pjf.1_Frame_Shift_Del_p.T534fs|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Frame_Shift_Del_p.T114fs	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	534					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AACGTTCACTGTTTTCACACT	0.433												
MIA3	375056	broad.mit.edu	37	1	222802793	222802793	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:222802792_222802792GA>G	uc001hnl.3	+	3	2239	c.2230_2230GA>G	c.(2230-2232)gaafs	p.E744fs	MIA3_uc009xea.1_Frame_Shift_Del_p.E580fs	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	744					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACGGTCTAAAGAAAAAAACCC	0.423												
EPHX1	2052	broad.mit.edu	37	1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:226026383_226026383GC>G	uc001hpk.3	+	3	473	c.393_393GC>G	c.(391-393)aagfs	p.K131fs	EPHX1_uc001hpl.3_Frame_Shift_Del_p.K131fs	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	131					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGC	0.622												
TMEM63A	9725	broad.mit.edu	37	1	226034752	226034752	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:226034751_226034751TG>T	uc001hpm.2	-	23	3036	c.2414_2414CA>A	c.(2413-2415)cagfs	p.Q805fs		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	805						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TCAGGCCTCCTGGGGGGCAGC	0.642												
ARID4B	51742	broad.mit.edu	37	1	235409788	235409788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr1:235409787_235409787CA>C	uc021pks.1	-	6	771	c.394_394TG>G	c.(394-396)ggcfs	p.G132fs	ARID4B_uc001hwq.3_Frame_Shift_Del_p.G132fs|ARID4B_uc001hwr.3_Frame_Shift_Del_p.G132fs|ARID4B_uc001hws.4_Frame_Shift_Del_p.G132fs|ARID4B_uc001hwu.1_Frame_Shift_Del_p.G132fs	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTGGAGTGCCAAAATGCTCA	0.378												
ROCK2	9475	broad.mit.edu	37	2	11332385	11332385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:11332384_11332384CT>C	uc002rbd.1	-	31	4502	c.4053_4053AG>G	c.(4051-4053)aagfs	p.K1351fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1351					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GAGCTGGGGGCTTTTTAGGTA	0.433												
GPR113	165082	broad.mit.edu	37	2	26534413	26534413	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:26534412_26534412AC>A	uc002rhe.4	-	10	2184	c.2184_2184GT>T	c.(2182-2184)ggtfs	p.G728fs	GPR113_uc010yky.1_Frame_Shift_Del_p.G659fs|GPR113_uc002rhb.1_Frame_Shift_Del_p.G331fs|GPR113_uc010eyk.1_Frame_Shift_Del_p.G529fs|GPR113_uc002rhc.1_Frame_Shift_Del_p.G331fs|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	728	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGGACCAACCCCCCCTGC	0.612												
AGBL5	60509	broad.mit.edu	37	2	27278901	27278901	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:27278900_27278900TC>T	uc002rie.3	+	6	1476	c.1259_1259TC>T	c.(1258-1260)atcfs	p.I420fs	AGBL5_uc002rid.3_Frame_Shift_Del_p.I420fs|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	420					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGATACCATCCCCCCCAAA	0.517												
ZNF513	130557	broad.mit.edu	37	2	27602968	27602971	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:27602967_27602970GTCTC>G	uc002rkk.3	-	1	419_422	c.201_204GAGAC>C	c.(199-204)agagacfs	p.R67fs	ZNF513_uc002rkj.3_Frame_Shift_Del_p.R5fs	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN	Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.	67	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	p.R67T(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTCCGAGTCTCTCTCGAAGC	0.559												
ALK	238	broad.mit.edu	37	2	29416400	29416400	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:29416399_29416399CT>C	uc002rmy.3	-	28	5506	c.4554_4554AG>G	c.(4552-4554)aagfs	p.K1518fs	ALK_uc010ymo.2_Frame_Shift_Del_p.K450fs	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1518					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TAGGATTATTCTTTTTGGTGG	0.537			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome			
THADA	63892	broad.mit.edu	37	2	43625164	43625164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:43625163_43625163TG>T	uc002rsw.4	-	28	4526	c.4174_4174CA>A	c.(4174-4176)agcfs	p.S1392fs	THADA_uc010far.3_Frame_Shift_Del_p.S587fs|THADA_uc002rsx.4_Frame_Shift_Del_p.S1392fs|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Frame_Shift_Del_p.S1101fs|THADA_uc010fat.1_Frame_Shift_Del_p.S539fs	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1392							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCAGTGCAGCTGGGGAGTGTG	0.463												
PPM1B	5495	broad.mit.edu	37	2	44428501	44428501	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:44428500_44428500AT>A	uc002rtt.3	+	1	590	c.162_162AT>A	c.(160-162)tcafs	p.S54fs	PPM1B_uc002rts.3_Frame_Shift_Del_p.S54fs|PPM1B_uc002rtu.3_Frame_Shift_Del_p.S54fs|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Frame_Shift_Del_p.S54fs|PPM1B_uc002rtx.3_Frame_Shift_Del_p.S54fs	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	54					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGACTGGTCATTTTTTGCAG	0.448												
BCL11A	53335	broad.mit.edu	37	2	60689254	60689254	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:60689253_60689253AG>A	uc002sae.1	-	3	1022	c.794_794CT>T	c.(793-795)ctgfs	p.L265fs	BCL11A_uc002sab.3_Frame_Shift_Del_p.L265fs|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Frame_Shift_Del_p.L231fs|BCL11A_uc002sad.1_Frame_Shift_Del_p.L113fs|BCL11A_uc002saf.1_Frame_Shift_Del_p.L231fs	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	265	Pro-rich.				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|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGACTAAACAGGGGGGGAGT	0.587			T	IGH@	B-CLL							
EHBP1	23301	broad.mit.edu	37	2	63176136	63176136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:63176135_63176135CA>C	uc002sby.3	+	13	2741	c.2259_2259CA>C	c.(2257-2259)atcfs	p.I753fs	EHBP1_uc010fcp.3_Frame_Shift_Del_p.I718fs|EHBP1_uc002sbz.3_Frame_Shift_Del_p.I718fs|EHBP1_uc002scb.3_Frame_Shift_Del_p.I718fs	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	753						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AATCTCCTATCAAAAAAACAA	0.368												
CD207	50489	broad.mit.edu	37	2	71060136	71060137	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:71060135_71060136T>TC	uc002shg.3	-	3	659_660	c.612_613A>GA	c.(610-615)gggaacfs	p.G204fs		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	204	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TAATAGAAGTTCCCCTTGAAGT	0.446												
MOGS	7841	broad.mit.edu	37	2	74690083	74690084	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:74690082_74690083CTT>C	uc010ffj.3	-	3	996_997	c.833_834AAG>G	c.(832-834)aagfs	p.K278fs	MOGS_uc010ffh.3_Frame_Shift_Del_p.K3fs|MOGS_uc010yrt.2_Frame_Shift_Del_p.K159fs|MOGS_uc010ffi.3_Frame_Shift_Del_p.K172fs|MOGS_uc010yru.1_3'UTR	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	278					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	p.V277V(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TTAGGCGACTCTTTACCATCTC	0.535												
AUP1	550	broad.mit.edu	37	2	74756072	74756074	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:74756071_74756073CAGG>C	uc002smh.3	-	2	743_745	c.56_58CCTG>G	c.(55-60)cctggt>cGgt	p.19_20PG>R	DQX1_uc010yrw.2_5'Flank|AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_Intron|AUP1_uc002smg.3_Intron|AUP1_uc010yrx.2_Intron|AUP1_uc021vjm.1_In_Frame_Del_p.19_20PG>R|AUP1_uc010yry.2_3'UTR|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc010ffl.3_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA.	176						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GGCTGGGAACCAGGAGAAGAGAA	0.493												
RETSAT	54884	broad.mit.edu	37	2	85571291	85571291	+	Splice_Site	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:85571290_85571290TG>T	uc002spd.3	-	9	1558	c.1367_splice	c.e9-1	p.G456_splice	RETSAT_uc010fge.3_Intron|RETSAT_uc010ysm.2_Splice_Site_p.G395_splice	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	456					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGGACCGGCCTGGGGATCAGA	0.617												
MRPS5	64969	broad.mit.edu	37	2	95753233	95753233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:95753232_95753232CG>C	uc002sub.3	-	11	1381	c.1163_1163CG>G	c.(1162-1164)cggfs	p.R388fs	MRPS5_uc002suc.3_Non-coding_Transcript	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	388					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome	p.R388L(2)|p.P387L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CAAGGGCCCCCGGGGGGACGC	0.562												
NCAPH	23397	broad.mit.edu	37	2	97008988	97008988	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:97008987_97008987TG>T	uc002svz.1	+	4	624	c.540_540TG>T	c.(538-540)cttfs	p.L180fs	NCAPH_uc010fhu.1_Frame_Shift_Del_p.L156fs|NCAPH_uc010fhv.1_Frame_Shift_Del_p.L169fs|NCAPH_uc010yum.1_Frame_Shift_Del_p.L156fs|NCAPH_uc010yun.1_Frame_Shift_Del_p.L44fs	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	180					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ACAGAGTCCTTGGGGGGCTGG	0.527												
WDR33	55339	broad.mit.edu	37	2	128477655	128477655	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:128477654_128477654GC>G	uc002tpg.2	-	15	2144	c.1945_1945GC>C	c.(1945-1947)ccafs	p.P649fs		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	649	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AATCCTTGTGGCCCCCCACCT	0.647												
MCM6	4175	broad.mit.edu	37	2	136610462	136610462	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:136610461_136610461GC>G	uc002tuw.3	-	11	1727	c.1651_1651GC>C	c.(1651-1653)cgcfs	p.R551fs		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	551	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding	p.R551H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCTACTATGCGCCTGGCAATG	0.363												
LRP1B	53353	broad.mit.edu	37	2	141032034	141032034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:141032033_141032033GC>G	uc002tvj.1	-	84	14074	c.13102_13102GC>C	c.(13102-13104)cacfs	p.H4368fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4368					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4367R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		ATAATGCAGTGCCCCCCATGG	0.418										TSP Lung(27;0.18)		
KYNU	8942	broad.mit.edu	37	2	143713778	143713778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:143713777_143713777AT>A	uc010fnm.3	+	6	657	c.441_441AT>A	c.(439-441)tcafs	p.S147fs	KYNU_uc002tvk.3_Frame_Shift_Del_p.S147fs|KYNU_uc002tvl.3_Frame_Shift_Del_p.S147fs	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	147					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TGCAGTTATCATTTTTTAAGC	0.284												
KCNJ3	3760	broad.mit.edu	37	2	155711297	155711297	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:155711296_155711296GT>G	uc002tyv.1	+	2	1172	c.977_977GT>G	c.(976-978)cgtfs	p.R326fs	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	326					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TGGGGTCATCGTTTTTTTCCT	0.378												
COBLL1	22837	broad.mit.edu	37	2	165578962	165578962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:165578961_165578961GA>G	uc002ucp.3	-	4	955	c.733_733TC>C	c.(733-735)caafs	p.Q245fs	COBLL1_uc002ucq.3_Frame_Shift_Del_p.Q245fs|COBLL1_uc010zcw.2_Frame_Shift_Del_p.Q311fs|COBLL1_uc010zcx.2_Frame_Shift_Del_p.Q291fs|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Frame_Shift_Del_p.Q14fs	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	283										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTACTGCGTTGAAAAAAACTG	0.269												
LRP2	4036	broad.mit.edu	37	2	170127462	170127462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:170127461_170127461GA>G	uc002ues.3	-	15	2486	c.2273_2273TC>C	c.(2272-2274)tcafs	p.S758fs	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	758					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGACATATCTGAAAAAAAGAT	0.418												
PPIG	9360	broad.mit.edu	37	2	170460581	170460581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:170460580_170460580GT>G	uc002uez.3	+	2	249	c.29_29GT>G	c.(28-30)tgtfs	p.C10fs	PPIG_uc010fpx.3_Frame_Shift_Del_p.C10fs|PPIG_uc010fpy.3_Intron|PPIG_uc002ufa.3_Frame_Shift_Del_p.C10fs|PPIG_uc002ufb.3_Frame_Shift_Del_p.C10fs|PPIG_uc002ufc.1_Frame_Shift_Del_p.C10fs|PPIG_uc002ufd.3_Frame_Shift_Del_p.C10fs	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	10					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CGTCCTCGATGTTTTTTTGAC	0.308												
ITGA6	3655	broad.mit.edu	37	2	173335733	173335733	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:173335732_173335732CT>C	uc002uhp.1	+	4	877	c.674_674CT>C	c.(673-675)actfs	p.T225fs	ITGA6_uc010fqk.1_Frame_Shift_Del_p.T111fs|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Frame_Shift_Del_p.T225fs|ITGA6_uc010fql.2_Non-coding_Transcript	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	225					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAGAATAACACTTTTTTTGAC	0.343												
ATF2	1386	broad.mit.edu	37	2	175982979	175982979	+	Splice_Site	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:175982978_175982978CT>C	uc002ujl.3	-	6	580	c.318_splice	c.e6+1	p.K106_splice	ATF2_uc002ujv.3_Splice_Site|ATF2_uc002ujm.3_Splice_Site_p.K48_splice|ATF2_uc002uju.3_Splice_Site|ATF2_uc002ujn.3_Splice_Site|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Splice_Site|ATF2_uc002ujq.3_Splice_Site_p.K106_splice|ATF2_uc010fqu.3_Splice_Site_p.K88_splice|ATF2_uc002ujr.3_Splice_Site|ATF2_uc002ujs.3_Splice_Site_p.K48_splice|ATF2_uc002ujt.3_Splice_Site|ATF2_uc010fqv.3_Splice_Site_p.K57_splice|ATF2_uc002ujw.1_Splice_Site_p.K48_splice|ATF2_uc002ujx.1_Splice_Site|ATF2_uc002ujy.1_Splice_Site_p.K106_splice	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	106					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			TTACAACATACTTTTTTAATG	0.303												
TTN	7273	broad.mit.edu	37	2	179424814	179424814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:179424813_179424813CG>C	uc021vsy.1	-	274	78567	c.78342_78342CG>G	c.(78340-78342)ccgfs	p.P26114fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.P19809fs|TTN_uc021vta.1_Frame_Shift_Del_p.P19742fs|TTN_uc021vtb.1_Frame_Shift_Del_p.P19617fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27041	Ig-like 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T26114T(1)		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)			ATCCAGTTATCGGGGCCCCAC	0.433												
BMPR2	659	broad.mit.edu	37	2	203384859	203384859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:203384858_203384858TC>T	uc002uzf.4	+	6	2049	c.901_901TC>T	c.(901-903)tctfs	p.S301fs	BMPR2_uc010ftr.3_Frame_Shift_Del_p.S301fs	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	301	Protein kinase.				BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CTGGGTAAGCTCTTGCCGTCT	0.373												
NDUFS1	4719	broad.mit.edu	37	2	207018409	207018409	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:207018408_207018408TA>T	uc010ziq.2	-	2	100	c.39_splice	c.e2-1	p.I13_splice	NDUFS1_uc002vbe.3_Splice_Site|NDUFS1_uc010zir.2_Splice_Site|NDUFS1_uc010zis.2_Splice_Site|NDUFS1_uc010zit.2_Splice_Site|NDUFS1_uc010ziu.2_Intron	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	0					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	AACATATTGCTAAAAATAAAA	0.299												
CUL3	8452	broad.mit.edu	37	2	225368388	225368389	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:225368387_225368388G>GT	uc010fwy.1	-	8	1429_1430	c.1376_1377C>AC	c.(1375-1377)aacfs	p.N459fs	CUL3_uc010zls.1_Frame_Shift_Ins_p.N387fs|CUL3_uc002vny.2_Frame_Shift_Ins_p.N453fs	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	453					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TAGATATCATGTTTTTTTCAGA	0.317												
PTMA	5757	broad.mit.edu	37	2	232576065	232576067	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:232576064_232576066AAGG>A	uc002vsc.4	+	1	234_236	c.52_54AAGG>A	c.(52-54)aag>A	p.K18del	PTMA_uc002vsb.4_In_Frame_Del_p.K18del|PTMA_uc010zmf.2_Non-coding_Transcript|PTMA_uc021vyc.1_5'Flank	NM_001099285	NP_001092755	P06454	PTMA_HUMAN	Homo sapiens prothymosin, alpha (PTMA), transcript variant 1, mRNA.	18					transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GAAGGACTTAAAGGAGAAGAAGG	0.507											OREG0015276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TRPM8	79054	broad.mit.edu	37	2	234858731	234858731	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr2:234858730_234858730CT>C	uc002vvh.3	+	8	1120	c.1080_1080CT>C	c.(1078-1080)cgcfs	p.R360fs	TRPM8_uc010fyj.3_Frame_Shift_Del_p.R48fs	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	360						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGCTGGTGCGCTTTTTACCCC	0.572												
CNTN4	152330	broad.mit.edu	37	3	3067806	3067806	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:3067805_3067805AC>A	uc003bpc.3	+	14	1845	c.1506_1506AC>A	c.(1504-1506)gtafs	p.V502fs	CNTN4_uc003bpb.1_Frame_Shift_Del_p.V174fs|CNTN4_uc021wsg.1_Frame_Shift_Del_p.V502fs|CNTN4_uc003bpd.1_Frame_Shift_Del_p.V502fs|CNTN4_uc003bpe.3_Frame_Shift_Del_p.V174fs|CNTN4_uc003bpf.3_Frame_Shift_Del_p.V174fs	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	502	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGGTAATGGTACCCCCTTCCA	0.418												
SEC13	6396	broad.mit.edu	37	3	10357004	10357005	+	Splice_Site	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:10357003_10357004A>AC	uc003bvn.3	-	3	286	c.164_splice	c.e3+1	p.G55_splice	SEC13_uc003bvl.3_5'Flank|SEC13_uc003bvm.3_Splice_Site_p.G41_splice|SEC13_uc003bvp.3_Splice_Site_p.G58_splice|SEC13_uc003bvo.3_Splice_Site_p.G101_splice|SEC13_uc003bvr.1_Splice_Site_p.G41_splice|SEC13_uc011aul.2_Splice_Site_p.G55_splice	NM_183352	NP_001129704	P55735	SEC13_HUMAN	Homo sapiens SEC13 homolog (S. cerevisiae) (SEC13), transcript variant 1, mRNA.	55					COPII vesicle coating|intracellular protein transport|mRNA transport|mitotic prometaphase|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	ER to Golgi transport vesicle membrane|Nup107-160 complex|cytosol|endoplasmic reticulum membrane	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GCCAGCACTTACCCCCTGAGGT	0.579												
ANKRD28	23243	broad.mit.edu	37	3	15756166	15756167	+	Splice_Site	INS	-	-	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:15756165_15756166T>TG	uc003caj.1	-	9	1050	c.907_splice	c.e9-1	p.S303_splice	ANKRD28_uc003cai.1_Splice_Site_p.S149_splice|ANKRD28_uc011avz.1_Splice_Site_p.S149_splice|ANKRD28_uc003cak.1_Splice_Site|ANKRD28_uc011awa.1_Splice_Site|ANKRD28_uc003cal.1_Splice_Site_p.S333_splice|ANKRD28_uc003cam.2_Splice_Site_p.S336_splice	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	303						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATCTTTACTCTGGGGGGGGAAG	0.361												
SUCLG2	8801	broad.mit.edu	37	3	67570955	67570956	+	Frame_Shift_Ins	INS	-	-	C	rs61756471	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:67570954_67570955G>GC	uc021xae.1	-	4	549_550	c.521_522C>GC	c.(520-522)ggcfs	p.G174fs	SUCLG2_uc010hob.3_Frame_Shift_Ins_p.G55fs|SUCLG2_uc003dna.4_Frame_Shift_Ins_p.G174fs	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	174	ATP-grasp.			GV -> RS (in Ref. 2; AAC64397).	succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CAATGTCGACGCCCCCCTGGGG	0.505												
IMPG2	50939	broad.mit.edu	37	3	100992437	100992439	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:100992436_100992438ATTC>A	uc003duq.2	-	6	1018_1020	c.815_817GAAT>T	c.(814-819)gaattt>gTtt	p.272_273EF>V	IMPG2_uc011bhe.2_In_Frame_Del_p.135_136EF>V	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	272	SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTGAAATAAATTCTTCTTCAAG	0.399												
FAM55C	91775	broad.mit.edu	37	3	101525973	101525973	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:101525972_101525972TA>T	uc003dvn.3	+	6	1559	c.922_splice	c.e6+2	p.E308_splice	FAM55C_uc010hpn.3_Splice_Site_p.E308_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	308						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GAATAAAAGGTAAAAAAAAGA	0.353												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCC	0.632												
TPRA1	131601	broad.mit.edu	37	3	127294786	127294788	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:127294785_127294787GGAA>G	uc003ejn.2	-	6	938_940	c.605_607TTCC>C	c.(604-609)ttcctg>tCtg	p.202_203FL>S	TPRA1_uc003ejl.2_In_Frame_Del_p.202_203FL>S|TPRA1_uc010hsk.2_In_Frame_Del_p.202_203FL>S|TPRA1_uc003ejm.3_Non-coding_Transcript	NM_001136053	NP_057456	Q86W33	TPRA1_HUMAN	Homo sapiens transmembrane protein, adipocyte asscociated 1 (TPRA1), transcript variant 1, mRNA.	202					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						AACCTCACCAGGAAGAAGAAGCA	0.611												
FNDC3B	64778	broad.mit.edu	37	3	172096210	172096211	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:172096209_172096210T>TC	uc003fhy.3	+	23	3330_3331	c.3158_3159T>TC	c.(3157-3159)gtcfs	p.V1053fs	FNDC3B_uc003fhz.4_Frame_Shift_Ins_p.V1053fs	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	1053						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.470												
OSTalpha	200931	broad.mit.edu	37	3	195955038	195955038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr3:195955037_195955037TG>T	uc003fwd.3	+	4	615	c.414_414TG>T	c.(412-414)tttfs	p.F138fs	OSTalpha_uc010iac.1_Frame_Shift_Del_p.F22fs|OSTalpha_uc003fwe.3_Frame_Shift_Del_p.F5fs	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	138						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		TGGAAGGCTTTGGGGGGAAGG	0.617												
CPLX1	10815	broad.mit.edu	37	4	786350	786352	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:786349_786351CCTT>C	uc003gbi.3	-	2	268_270	c.77_79AAGG>G	c.(76-81)aaggac>aGac	p.26_27KD>R	CPLX1_uc003gbj.3_In_Frame_Del_p.26_27KD>R	NM_006651	NP_006642	O14810	CPLX1_HUMAN	Homo sapiens complexin 1 (CPLX1), mRNA.	26					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		GCGTCTGGGTCCTTCTCCTCGTC	0.655												
GAK	2580	broad.mit.edu	37	4	887700	887700	+	Frame_Shift_Del	DEL	G	G	-	rs116865703	by1000genomes	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:887699_887699CG>C	uc003gbm.4	-	7	1039	c.840_840CG>G	c.(838-840)ccgfs	p.P280fs	GAK_uc003gbn.4_Frame_Shift_Del_p.P201fs|GAK_uc010ibk.1_Frame_Shift_Del_p.P174fs|GAK_uc003gbl.4_Frame_Shift_Del_p.P144fs	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	280	Protein kinase.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.P280L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCGTGTCGTGCGGGGGGATCG	0.607												
GPR125	166647	broad.mit.edu	37	4	22394224	22394224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:22394223_22394223CT>C	uc003gqm.1	-	16	2837	c.2572_2572AG>G	c.(2572-2574)gctfs	p.A858fs	GPR125_uc010ieo.1_Frame_Shift_Del_p.A714fs|GPR125_uc003gql.1_5'UTR	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	858					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CATCTTTTAGCTTTTTTAGTG	0.398												
UGT2B17	7367	broad.mit.edu	37	4	69433933	69433933	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:69433932_69433932TA>T	uc021xov.1	-	0	314	c.271_271TA>A	c.(271-273)atgfs	p.M91fs		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	91					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						AACATTTTCATAAAAAAATCT	0.274												
SMARCAD1	56916	broad.mit.edu	37	4	95173910	95173911	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:95173909_95173910T>TA	uc003htb.4	+	8	1209_1210	c.1032_1033T>TA	c.(1030-1035)cgtaaafs	p.R344fs	SMARCAD1_uc003htc.4_Frame_Shift_Ins_p.R344fs|SMARCAD1_uc003htd.4_Frame_Shift_Ins_p.R344fs|SMARCAD1_uc010ila.3_Frame_Shift_Ins_p.R207fs|SMARCAD1_uc011cdw.2_5'Flank	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	344					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.R344C(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ACAAGAAACGTAAAAAAAATGT	0.312												
TET2	54790	broad.mit.edu	37	4	106157549	106157550	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:106157548_106157549T>TC	uc011cez.2	+	2	2917_2918	c.2512_2513T>TC	c.(2512-2514)tccfs	p.S838fs	TET2_uc003hxk.3_Frame_Shift_Ins_p.S817fs|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Frame_Shift_Ins_p.S817fs|TET2_uc010ilp.2_Frame_Shift_Ins_p.S817fs|TET2_uc021xql.1_Frame_Shift_Ins_p.S817fs	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	817	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.T838A(1)|p.S817fs*2(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCGTAGAAATTCCCCTTATAGT	0.356			"""Mis N, F"""		MDS							
BBS12	166379	broad.mit.edu	37	4	123663971	123663972	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:123663970_123663971TTA>T	uc021xrm.1	+	2	1304_1305	c.923_924TTA>T	c.(922-924)tttfs	p.F308fs	BBS12_uc003ieu.3_Frame_Shift_Del_p.F308fs|BBS12_uc021xrn.1_Frame_Shift_Del_p.F308fs	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	308					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ACAAAACCATTTATGTTTGACA	0.391									Bardet-Biedl syndrome			
PHF17	79960	broad.mit.edu	37	4	129783017	129783017	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:129783016_129783016AG>A	uc011cgy.2	+	8	1453	c.1139_1139AG>A	c.(1138-1140)aagfs	p.K380fs	PHF17_uc003igj.3_Frame_Shift_Del_p.K380fs|PHF17_uc003igk.3_Frame_Shift_Del_p.K380fs|PHF17_uc003igl.3_Frame_Shift_Del_p.K368fs|PHF17_uc003igm.3_Frame_Shift_Del_p.K380fs	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	380					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGTCTTGGCAAGGGGGCTGCA	0.577												
SCOC	60592	broad.mit.edu	37	4	141264811	141264813	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:141264810_141264812AGAG>A	uc003iib.2	+	1	161_163	c.18_20AGAG>A	c.(16-21)aaagag>aaAg	p.E10del	SCOC_uc011che.1_In_Frame_Del_p.E10del|SCOC_uc003iid.2_In_Frame_Del_p.E10del|SCOC_uc011chf.1_In_Frame_Del_p.E10del|SCOC_uc011chg.1_In_Frame_Del_p.E10del|LOC100129858_uc003iic.2_Intron	NM_032547	NP_115936	Q9UIL1	SCOC_HUMAN	Homo sapiens short coiled-coil protein (SCOC), transcript variant 4, mRNA.	0						Golgi apparatus|nucleus	protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					GGTCCAGGAAAGAGGAGGAGGAA	0.424												
HHIP	64399	broad.mit.edu	37	4	145655985	145655985	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:145655984_145655984AC>A	uc003ijs.2	+	11	2532	c.1852_1852AC>A	c.(1852-1854)accfs	p.T618fs		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	618	EGF-like 1.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CGGCTACTGCACCCCCACGGG	0.532												
SFRP2	6423	broad.mit.edu	37	4	154709525	154709525	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:154709524_154709524AG>A	uc003inv.1	-	0	705	c.464_464CT>T	c.(463-465)ctcfs	p.L155fs		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	155	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GCTGCTAGCGAGGGGGATGCA	0.657												
TDO2	6999	broad.mit.edu	37	4	156824926	156824926	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:156824925_156824925AT>A	uc003ipf.1	+	0	79	c.15_15AT>A	c.(13-15)ccafs	p.P5fs		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	5					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	GTGGGTGCCCATTTTTAGGAA	0.418												
SH3RF1	57630	broad.mit.edu	37	4	170057551	170057551	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr4:170057550_170057550AG>A	uc003isa.1	-	4	1322	c.987_987CT>T	c.(985-987)cctfs	p.P329fs	SH3RF1_uc010irc.1_Frame_Shift_Del_p.C52fs	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	329						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TGATGAGGACAGGGGGGCTGA	0.572												
KIAA0947	23379	broad.mit.edu	37	5	5463182	5463182	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:5463181_5463181TA>T	uc003jdm.4	+	12	3956	c.3734_3734TA>T	c.(3733-3735)ttafs	p.L1245fs		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1245										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATTATTCGTTAAAAAATACA	0.383												
PDZD2	23037	broad.mit.edu	37	5	32097388	32097390	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:32097387_32097389TGAA>T	uc003jhl.3	+	21	8236_8238	c.7848_7850TGAA>T	c.(7846-7851)aatgaa>aaTa	p.E2618del	PDZD2_uc003jhm.3_In_Frame_Del_p.E2618del|PDZD2_uc003jhn.3_5'Flank	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2618					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTCACTAGAATGAAGAAGATGTT	0.404												
ITGA2	3673	broad.mit.edu	37	5	52377476	52377478	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:52377475_52377477ATCT>A	uc003joy.3	+	25	3236_3238	c.3093_3095ATCT>A	c.(3091-3096)acatct>acAt	p.S1034del	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_In_Frame_Del_p.S958del|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	1034					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			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TAGGACAAACATCTTCTTCTGTA	0.379												
BDP1	55814	broad.mit.edu	37	5	70806878	70806878	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:70806877_70806877GA>G	uc003kbp.1	+	16	4221	c.3958_3958GA>G	c.(3958-3960)gaafs	p.E1320fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.E1320fs|BDP1_uc003kbo.3_Frame_Shift_Del_p.E1320fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1320	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTCTCCAAGGGAAAACGAGCT	0.408												
OTP	23440	broad.mit.edu	37	5	76932754	76932754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:76932753_76932753CG>C	uc003kfg.3	-	1	488	c.340_340CG>G	c.(340-342)gcafs	p.A114fs		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	Homo sapiens orthopedia homeobox (OTP), mRNA.	114						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		TTGAGCTGTGCGGGGGTGAAG	0.667												
ELL2	22936	broad.mit.edu	37	5	95234467	95234467	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:95234466_95234466CT>C	uc003klr.4	-	7	1353	c.1003_1003AG>G	c.(1003-1005)gccfs	p.A335fs		NM_012081	NP_036213	O00472	ELL2_HUMAN	Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.	335					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GATATTCGGGCTTTTTTATTC	0.433												
NUDT12	83594	broad.mit.edu	37	5	102895013	102895013	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:102895012_102895012TA>T	uc003koi.3	-	2	457	c.364_364TA>A	c.(364-366)agcfs	p.S122fs	NUDT12_uc011cvb.2_Frame_Shift_Del_p.S104fs	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	122						nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		AGTGTTTTGCTAAAATAATTT	0.378												
APC	324	broad.mit.edu	37	5	112177864	112177864	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:112177863_112177863GA>G	uc003kpz.4	+	16	6765	c.6572_6572GA>G	c.(6571-6573)ggafs	p.G2191fs	APC_uc011cvt.2_Frame_Shift_Del_p.G2173fs|APC_uc003kpy.4_Frame_Shift_Del_p.G2191fs|APC_uc010jbz.3_Frame_Shift_Del_p.G1908fs|APC_uc010jca.3_Frame_Shift_Del_p.G1491fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	2191	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATCAAAGGAGGAAAAAAAGTT	0.348		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)		
AQPEP	206338	broad.mit.edu	37	5	115361762	115361762	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:115361761_115361761GA>G	uc003kro.3	+	19	3083	c.2919_2919GA>G	c.(2917-2919)ctgfs	p.L973fs	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	973					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ATGAAAATCTGAAAAACAAGA	0.418												
TCF7	6932	broad.mit.edu	37	5	133478536	133478538	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:133478535_133478537TAAG>T	uc003kyt.3	+	6	1075_1077	c.879_881TAAG>T	c.(877-882)cttaag>ctTg	p.K294del	TCF7_uc003kyv.3_In_Frame_Del_p.K179del|TCF7_uc003kyw.3_In_Frame_Del_p.K179del|TCF7_uc003kyu.2_In_Frame_Del_p.K179del|TCF7_uc003kyy.3_In_Frame_Del_p.K179del|TCF7_uc003kyx.3_In_Frame_Del_p.K92del|TCF7_uc003kyz.3_In_Frame_Del_p.K179del|TCF7_uc003kza.3_In_Frame_Del_p.K179del|TCF7_uc003kzb.3_In_Frame_Del_p.K108del|TCF7_uc010jdu.3_5'Flank	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	294					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGCACACTTAAGGAGAGCGCT	0.581												
KDM3B	51780	broad.mit.edu	37	5	137756625	137756625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:137756624_137756624TC>T	uc003lcy.1	+	14	4145	c.3945_3945TC>T	c.(3943-3945)tttfs	p.F1315fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.F971fs|KDM3B_uc011cys.1_Frame_Shift_Del_p.F347fs	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1315					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCATACCCTTTCCCCCGGTCT	0.507												
EGR1	1958	broad.mit.edu	37	5	137803132	137803132	+	Frame_Shift_Del	DEL	C	C	-	rs148475837		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:137803131_137803131GC>G	uc003ldb.1	+	1	1263	c.993_993GC>G	c.(991-993)acgfs	p.T331fs		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	331					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACG	0.652												
CTNNA1	1495	broad.mit.edu	37	5	138253516	138253516	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:138253515_138253515GA>G	uc003ldh.3	+	10	1569	c.1474_1474GA>G	c.(1474-1476)gaafs	p.E492fs	CTNNA1_uc011cyx.2_Frame_Shift_Del_p.E389fs|CTNNA1_uc011cyy.2_Frame_Shift_Del_p.E369fs|CTNNA1_uc003ldi.3_Frame_Shift_Del_p.E190fs|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.E492fs|CTNNA1_uc003ldl.3_Frame_Shift_Del_p.E122fs	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	492					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			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAACAATGGGAAAAACAAGT	0.413												
CTNNA1	1495	broad.mit.edu	37	5	138260955	138260955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:138260954_138260954GT>G	uc003ldh.3	+	12	1852	c.1757_1757GT>G	c.(1756-1758)cgtfs	p.R586fs	CTNNA1_uc011cyx.2_Frame_Shift_Del_p.R483fs|CTNNA1_uc011cyy.2_Frame_Shift_Del_p.R463fs|CTNNA1_uc003ldi.3_Frame_Shift_Del_p.R284fs|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.R586fs|CTNNA1_uc003ldl.3_Frame_Shift_Del_p.R216fs	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	586					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			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCATGCCACGTTTTACTGAG	0.542												
PCDHGC5	56097	broad.mit.edu	37	5	140773871	140773871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:140773870_140773870AG>A	uc003lkd.2	+	0	2388	c.1490_1490AG>A	c.(1489-1491)cagfs	p.Q497fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Frame_Shift_Del_p.Q497fs|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	499	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q497*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACGCTGCAGGGGGCGCCC	0.562												
SH3RF2	153769	broad.mit.edu	37	5	145439558	145439558	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:145439557_145439557TC>T	uc003lnt.3	+	8	1922	c.1684_1684TC>T	c.(1684-1686)tccfs	p.S562fs	SH3RF2_uc011dbl.1_Frame_Shift_Del_p.S562fs|SH3RF2_uc011dbm.1_Frame_Shift_Del_p.S47fs|SH3RF2_uc003lnu.3_Frame_Shift_Del_p.S53fs|SH3RF2_uc011dbn.1_Frame_Shift_Del_p.S53fs|SH3RF2_uc011dbo.2_Frame_Shift_Del_p.S19fs	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	562							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCCCCTCCTCCCCCTCAGC	0.667												
PANK3	79646	broad.mit.edu	37	5	167991059	167991059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:167991058_167991058AC>A	uc003lzz.2	-	3	974	c.648_648GT>T	c.(646-648)ggtfs	p.G216fs		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Homo sapiens pantothenate kinase 3 (PANK3), mRNA.	216					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CCAGAAAGGTACCCCCTCCAA	0.378												
SH3PXD2B	285590	broad.mit.edu	37	5	171765831	171765832	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:171765830_171765831C>CG	uc003mbr.3	-	12	2449_2450	c.2278_2279G>CG	c.(2278-2280)cgcfs	p.R760fs		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	760	Pro-rich.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGTGGTCTGCGGGGTGGGACC	0.624												
SH3PXD2B	285590	broad.mit.edu	37	5	171833291	171833291	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:171833290_171833290AG>A	uc003mbr.3	-	2	394	c.223_223CT>T	c.(223-225)tttfs	p.F75fs	SH3PXD2B_uc003mbs.1_Frame_Shift_Del_p.F75fs	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	75	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding	p.P74L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTGGCAGAAAGGGGATGATC	0.517												
OR2Y1	134083	broad.mit.edu	37	5	180166230	180166230	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:180166229_180166229TA>T	uc003mmf.1	-	0	830	c.830_830TA>A	c.(829-831)tatfs	p.Y277fs		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATTATAGTATAAAAAAGGGC	0.418												
BTNL8	79908	broad.mit.edu	37	5	180374580	180374580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:180374579_180374579AT>A	uc003mmp.3	+	3	975	c.741_741AT>A	c.(739-741)ctafs	p.L247fs	BTNL8_uc003mmq.3_Frame_Shift_Del_p.L247fs|BTNL8_uc010jll.3_Frame_Shift_Del_p.L247fs|BTNL8_uc011dhg.2_Frame_Shift_Del_p.L122fs|BTNL8_uc010jlm.3_Frame_Shift_Del_p.L131fs|BTNL8_uc011dhh.2_Frame_Shift_Del_p.L63fs	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	247						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGTGGCCTATTTTTTGGCA	0.443												
BTNL3	10917	broad.mit.edu	37	5	180432665	180432665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:180432664_180432664TC>T	uc003mmr.3	+	7	1377	c.1193_1193TC>T	c.(1192-1194)ctcfs	p.L398fs	BTNL3_uc010jlp.3_Frame_Shift_Del_p.L183fs	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	398	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTTATCAGCCTCCCCCCCAGC	0.473												
TRIM7	81786	broad.mit.edu	37	5	180625788	180625788	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr5:180625787_180625787GC>G	uc003mmz.1	-	4	958	c.891_891GC>C	c.(889-891)ggcfs	p.G297fs	TRIM7_uc003mmv.1_Frame_Shift_Del_p.G115fs|TRIM7_uc003mmw.1_Frame_Shift_Del_p.G89fs|TRIM7_uc003mmy.1_Frame_Shift_Del_p.G89fs|TRIM7_uc003mmx.1_Frame_Shift_Del_p.G89fs	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	297						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TTGGCTTGGGGCCAGGCACAT	0.493												
DSP	1832	broad.mit.edu	37	6	7580509	7580509	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:7580508_7580508TA>T	uc003mxp.1	+	22	4364	c.4085_4085TA>T	c.(4084-4086)ttafs	p.L1362fs	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1362	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCATTAGCTTAAAAAATCAG	0.458												
DEK	7913	broad.mit.edu	37	6	18258596	18258597	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:18258595_18258596C>CT	uc003ncr.1	-	2	379_380	c.186_187G>AG	c.(184-189)aaagtafs	p.K62fs	DEK_uc011djf.1_Intron|DEK_uc011djg.1_Non-coding_Transcript	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	62					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			AACCTCTCTACTTTTTTCTTTT	0.322			T	NUP214	AML							
BTN2A1	11120	broad.mit.edu	37	6	26465541	26465541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:26465540_26465540AG>A	uc003nib.2	+	4	1088	c.840_840AG>A	c.(838-840)tcafs	p.S280fs	BTN2A1_uc021yni.1_Frame_Shift_Del_p.S280fs|BTN2A1_uc003nic.2_Frame_Shift_Del_p.S280fs|BTN2A1_uc011dko.2_Frame_Shift_Del_p.S219fs	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	280					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						AGATTCTGTCAGGGGAAAAGG	0.403												
ZKSCAN3	80317	broad.mit.edu	37	6	28334042	28334042	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:28334041_28334041GA>G	uc010jrc.3	+	6	1929	c.1596_1596GA>G	c.(1594-1596)gggfs	p.G532fs	ZKSCAN3_uc003nle.4_Frame_Shift_Del_p.G532fs|ZKSCAN3_uc003nlf.4_Frame_Shift_Del_p.G384fs	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	532					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GCCATGTAGGGAAAAACATCC	0.448												
VARS2	57176	broad.mit.edu	37	6	30889916	30889916	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:30889915_30889915AC>A	uc011dmz.2	+	19	2000	c.1919_1919AC>A	c.(1918-1920)tacfs	p.Y640fs	VARS2_uc003nsc.2_Frame_Shift_Del_p.Y610fs|VARS2_uc011dmx.2_Frame_Shift_Del_p.Y610fs|VARS2_uc011dmy.2_Frame_Shift_Del_p.Y470fs|VARS2_uc011dna.2_Frame_Shift_Del_p.Y608fs|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Frame_Shift_Del_p.L25fs|VARS2_uc010jsg.2_5'UTR|VARS2_uc010jsh.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	610					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCTCGTTTCTACCCCCTGTCA	0.642												
BRD2	6046	broad.mit.edu	37	6	32948441	32948443	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:32948440_32948442GCTC>G	uc010juh.3	+	12	3760_3762	c.2456_2458GCTC>G	c.(2455-2460)agctcc>aGcc	p.819_820SS>S	BRD2_uc003ocn.4_In_Frame_Del_p.784_785SS>S|BRD2_uc003ocp.4_In_Frame_Del_p.664_665SS>S|BRD2_uc003ocq.4_In_Frame_Del_p.784_785SS>S|BRD2_uc021ywf.1_In_Frame_Del_p.737_738SS>S	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	784					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TCAGATTCCAGCTCCTCCTCTTC	0.557												
ZBTB9	221504	broad.mit.edu	37	6	33423605	33423605	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:33423604_33423604GT>G	uc003oeq.3	+	1	995	c.727_727GT>G	c.(727-729)gttfs	p.V243fs	ZBTB9_uc021ywp.1_Frame_Shift_Del_p.V243fs	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	243	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						AGTATCAGGGGTTTTTCCCCG	0.577												
TCP11	6954	broad.mit.edu	37	6	35088275	35088275	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:35088274_35088274TG>T	uc003okd.2	-	6	1085	c.904_904CA>A	c.(904-906)acafs	p.T302fs	TCP11_uc003ojz.1_Frame_Shift_Del_p.T227fs|TCP11_uc003oka.2_Frame_Shift_Del_p.T227fs|TCP11_uc003okb.2_Frame_Shift_Del_p.T226fs|TCP11_uc011dsu.1_Frame_Shift_Del_p.T284fs|TCP11_uc003okc.2_Frame_Shift_Del_p.T226fs|TCP11_uc011dsv.1_Frame_Shift_Del_p.T251fs|TCP11_uc011dsw.1_Frame_Shift_Del_p.T256fs	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	289					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGCACCATTGTGGGGCTGAGG	0.562												
SCUBE3	222663	broad.mit.edu	37	6	35213108	35213108	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:35213107_35213107AC>A	uc003okf.1	+	18	2510	c.2504_2504AC>A	c.(2503-2505)aacfs	p.N835fs	SCUBE3_uc003okg.1_Frame_Shift_Del_p.N834fs|SCUBE3_uc003okh.1_Frame_Shift_Del_p.N722fs	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	835	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGGAACATCAACCCCCCACCC	0.562												
FANCE	2178	broad.mit.edu	37	6	35425715	35425715	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:35425714_35425714GC>G	uc003oko.1	+	3	1107	c.922_922GC>G	c.(922-924)gccfs	p.A308fs	FANCE_uc010jvw.1_Frame_Shift_Del_p.A308fs	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGT	0.542			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
LRFN2	57497	broad.mit.edu	37	6	40400212	40400212	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:40400211_40400211AG>A	uc003oph.1	-	1	1107	c.642_642CT>T	c.(640-642)cctfs	p.P214fs		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	214						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGATGGGATCAGGGGGCAGCT	0.582												
APOBEC2	10930	broad.mit.edu	37	6	41029581	41029583	+	In_Frame_Del	DEL	GAG	GAG	-	rs150558136		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:41029580_41029582CGAG>C	uc003opl.3	+	1	792_794	c.645_647CGAG>C	c.(643-648)tacgag>taCg	p.E217del	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	217					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCTATACTACGAGGAGAAGTTG	0.483												
PRICKLE4	29964	broad.mit.edu	37	6	41752759	41752759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:41752758_41752758AG>A	uc011duf.1	+	4	574	c.326_326AG>A	c.(325-327)cagfs	p.Q109fs	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	69	LIM zinc-binding 1.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCCTGGGACAGGGGGTAGCC	0.617												
PRPH2	5961	broad.mit.edu	37	6	42689868	42689868	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:42689867_42689867AC>A	uc003osk.3	-	0	492	c.206_206GT>T	c.(205-207)gtgfs	p.V69fs		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	69					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			ACAGGATAGCACCCCCATCCC	0.527												
KIAA0240	23506	broad.mit.edu	37	6	42832627	42832627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:42832626_42832626TA>T	uc003osn.1	+	12	2833	c.2682_2682TA>T	c.(2680-2682)tctfs	p.S894fs	KIAA0240_uc011duw.1_Frame_Shift_Del_p.S894fs|KIAA0240_uc003osp.1_Frame_Shift_Del_p.S894fs	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	894										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GAAACATTTCTAAAAAAACAG	0.493												
KIAA1586	57691	broad.mit.edu	37	6	56917519	56917519	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:56917518_56917518AT>A	uc003pdj.3	+	3	391	c.221_221AT>A	c.(220-222)gatfs	p.D74fs	KIAA1586_uc011dxm.2_Frame_Shift_Del_p.D47fs	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	74							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CGACAGGGTGATTTTTTGCAT	0.308												
PHF3	23469	broad.mit.edu	37	6	64423498	64423500	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:64423497_64423499GAGA>G	uc003pep.1	+	14	6038_6040	c.6013_6015GAGA>G	c.(6013-6015)gag>G	p.E2005del	PHF3_uc003pen.2_In_Frame_Del_p.E1917del|PHF3_uc011dxs.1_In_Frame_Del_p.E1274del	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	2005					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGAAGACTATGAGAAGGACAAAG	0.419												
COL9A1	1297	broad.mit.edu	37	6	70991121	70991121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:70991120_70991120AG>A	uc003pfg.4	-	7	1008	c.849_849CT>T	c.(847-849)cctfs	p.P283fs	COL9A1_uc003pfe.4_5'Flank|COL9A1_uc003pff.4_Frame_Shift_Del_p.P40fs	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	283	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGGAACTCCAGGGGGGCCCG	0.597												
COL12A1	1303	broad.mit.edu	37	6	75899298	75899298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:75899297_75899297AT>A	uc021zbv.1	-	4	664	c.629_629AT>T	c.(628-630)attfs	p.I210fs	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Frame_Shift_Del_p.I210fs|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	210	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTATATGGAATTTTTTTTAT	0.323												
KIAA1009	22832	broad.mit.edu	37	6	84870551	84870551	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:84870550_84870550AT>A	uc010kbp.3	-	20	2859	c.2762_2762AT>T	c.(2761-2763)attfs	p.I921fs	KIAA1009_uc003pkj.4_Frame_Shift_Del_p.I845fs|KIAA1009_uc003pki.4_Frame_Shift_Del_p.I307fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	921					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CAGATCCTGAATTTTTTTGGC	0.353												
SNX14	57231	broad.mit.edu	37	6	86223616	86223616	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:86223615_86223615TA>T	uc003pkr.3	-	26	2751	c.2558_splice	c.e26-1	p.D853_splice	SNX14_uc003pkp.3_Splice_Site_p.D716_splice|SNX14_uc003pkq.3_Splice_Site_p.D459_splice|SNX14_uc011dzg.2_Splice_Site_p.D801_splice|SNX14_uc003pks.3_Splice_Site_p.D800_splice|SNX14_uc003pkt.3_Splice_Site_p.D844_splice	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	853					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ATATAGCATCTAAAAAAGAGT	0.308												
SPACA1	81833	broad.mit.edu	37	6	88775920	88775921	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:88775919_88775920T>TG	uc003pmn.3	+	6	868_869	c.751_752T>TG	c.(751-753)tggfs	p.W251fs		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	251						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CAAGGCTTTCTGGGGGGCAAAA	0.396												
FBXL4	26235	broad.mit.edu	37	6	99374939	99374939	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:99374938_99374938TA>T	uc003ppf.1	-	3	287	c.-71_splice	c.e3-1		FBXL4_uc003ppg.1_Splice_Site|FBXL4_uc003pph.1_Splice_Site	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA.						ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		AAGGATGTTCTAAAAAAATGA	0.358												
REV3L	5980	broad.mit.edu	37	6	111697578	111697578	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:111697577_111697577CA>C	uc003puy.4	-	12	2322	c.1981_1981TG>G	c.(1981-1983)gatfs	p.D661fs	REV3L_uc003pux.4_Frame_Shift_Del_p.D583fs|REV3L_uc003puz.4_Frame_Shift_Del_p.D583fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	661					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		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)		TCTTCATAATCAAAAATACTA	0.323								DNA polymerases (catalytic subunits)				
RFX6	222546	broad.mit.edu	37	6	117237372	117237372	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:117237371_117237371AT>A	uc003pxm.3	+	8	929	c.866_866AT>A	c.(865-867)catfs	p.H289fs		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	289					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.Q288R(1)|p.Q288H(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TAGATCCAGCATTTTTTATTA	0.323												
THEMIS	387357	broad.mit.edu	37	6	128134568	128134568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:128134567_128134567CT>C	uc011ebt.2	-	3	1368	c.1219_1219AG>G	c.(1219-1221)gtgfs	p.V407fs	THEMIS_uc010kfa.3_Frame_Shift_Del_p.V310fs|THEMIS_uc021zfa.1_Frame_Shift_Del_p.V407fs|THEMIS_uc010kfb.3_Frame_Shift_Del_p.V372fs	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	407	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACATTCACCACTTTTTTTATT	0.463												
AKAP7	9465	broad.mit.edu	37	6	131602673	131602673	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:131602672_131602672GA>G	uc003qck.3	+	7	931	c.787_787GA>G	c.(787-789)gaafs	p.E263fs	AKAP7_uc003qcm.2_Frame_Shift_Del_p.E41fs|AKAP7_uc003qcn.2_Frame_Shift_Del_p.E18fs	NM_016377	NP_057461	O43687	AKA7A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 7 (AKAP7), transcript variant gamma, mRNA.	41					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GAATGTAGGTGAAAAGAACGG	0.512												
STXBP5	134957	broad.mit.edu	37	6	147684582	147684582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:147684581_147684581GA>G	uc003qlz.3	+	23	2831	c.2656_2656GA>G	c.(2656-2658)gaafs	p.E886fs	STXBP5_uc010khz.2_Frame_Shift_Del_p.E850fs|STXBP5_uc003qly.3_Frame_Shift_Del_p.E541fs	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	886					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGTTCCTGAAGAAAAAGACGA	0.443												
ACAT2	39	broad.mit.edu	37	6	160196216	160196216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:160196215_160196215CA>C	uc010kjy.3	+	4	635	c.504_504CA>C	c.(502-504)gccfs	p.A168fs	ACAT2_uc011efw.2_Frame_Shift_Del_p.A197fs	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 2 (ACAT2), mRNA.	168						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAAATGTAGCCAAAAAATGGC	0.423												
PHF10	55274	broad.mit.edu	37	6	170117976	170117977	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:170117975_170117976TTG>T	uc011egy.2	-	3	431_432	c.352_353CAA>A	c.(352-354)aagfs	p.K118fs	PHF10_uc011egz.2_Frame_Shift_Del_p.K116fs|PHF10_uc011eha.1_5'Flank	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA.	118	Essential to induce neural progenitor proliferation (By similarity).|SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	p.K118fs*6(2)		endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GAGTTTCTCCTTGTGAGACAAA	0.322												
DLL1	28514	broad.mit.edu	37	6	170592611	170592611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr6:170592610_170592610TC>T	uc003qxm.3	-	8	2227	c.1757_1757GA>A	c.(1756-1758)gagfs	p.E586fs		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	586					Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding	p.G585G(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGTCTCCGTCTCCCCCCGGCA	0.632												
COL28A1	340267	broad.mit.edu	37	7	7557426	7557427	+	Splice_Site	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:7557425_7557426A>AC	uc003src.1	-	7	972	c.855_splice	c.e7+1	p.G285_splice	COL28A1_uc011jxe.1_Splice_Site|COL28A1_uc003srd.3_Intron	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	285					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGTGTACATACCCCTGGACCT	0.436												
THSD7A	221981	broad.mit.edu	37	7	11514198	11514198	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:11514197_11514197TA>T	uc021zzo.1	-	8	2270	c.2018_splice	c.e8-1	p.G673_splice	THSD7A_uc021zzn.1_Splice_Site_p.G673_splice	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	673	TSP type-1 6.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GAATTCCACCTAAAAACATGG	0.433										HNSCC(18;0.044)		
ABCB5	340273	broad.mit.edu	37	7	20682919	20682920	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:20682918_20682919G>GT	uc010kuh.3	+	5	663_664	c.426_427G>GT	c.(424-429)cagtttfs	p.Q142fs		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	326	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R142Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCGAAAACAGTTTTTTCATTC	0.406												
NOD1	10392	broad.mit.edu	37	7	30492568	30492570	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:30492567_30492569CCAG>C	uc003tav.3	-	5	987_989	c.464_466CTGG>G	c.(463-468)ctggag>cGag	p.155_156LE>R	NOD1_uc010kvs.2_In_Frame_Del_p.155_156LE>R	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	155					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TAGATCTCCTCCAGCAGCAGCTC	0.611												
GARS	2617	broad.mit.edu	37	7	30673453	30673453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:30673452_30673452TA>T	uc003tbm.3	+	16	2553	c.2196_2196TA>T	c.(2194-2196)ggtfs	p.G732fs		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	732					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	AAGAGACTGGTAAAAAAGAGA	0.418												
POLM	27434	broad.mit.edu	37	7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:44120413_44120413TG>T	uc003tjt.3	-	1	383	c.291_291CA>A	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGC	0.637								DNA polymerases (catalytic subunits)				
NPC1L1	29881	broad.mit.edu	37	7	44576448	44576448	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:44576447_44576447AC>A	uc003tlb.3	-	2	1731	c.1675_1675GT>T	c.(1675-1677)tacfs	p.Y559fs	NPC1L1_uc011kbw.2_Frame_Shift_Del_p.Y559fs|NPC1L1_uc003tlc.3_Frame_Shift_Del_p.Y559fs|NPC1L1_uc003tld.3_Frame_Shift_Del_p.Y559fs	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	559					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.G558V(1)		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)	TTACCTTTGTACCCCCCAATG	0.602												
SUN3	256979	broad.mit.edu	37	7	48028463	48028463	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:48028462_48028462AT>A	uc003tof.3	-	9	974	c.877_877AT>T	c.(877-879)tgtfs	p.C293fs	SUN3_uc010kyq.3_Frame_Shift_Del_p.C205fs|SUN3_uc003tog.3_Frame_Shift_Del_p.C293fs|SUN3_uc011kcf.2_Frame_Shift_Del_p.C281fs	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	293	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTCCTTCACATTTTTTTGTG	0.338												
POM121L12	285877	broad.mit.edu	37	7	53104102	53104103	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:53104101_53104102G>GT	uc003tpz.3	+	0	753_754	c.737_738G>GT	c.(736-738)agtfs	p.S246fs		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	246										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGAGCCTCAGTTTTTGTGATG	0.639												
PTPN12	5782	broad.mit.edu	37	7	77256248	77256248	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:77256247_77256247GA>G	uc003ugh.2	+	12	1342	c.1251_1251GA>G	c.(1249-1251)gggfs	p.G417fs	PTPN12_uc011kgp.1_Frame_Shift_Del_p.G298fs|PTPN12_uc011kgq.1_Frame_Shift_Del_p.G287fs|PTPN12_uc010lds.2_Frame_Shift_Del_p.G149fs	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	417	Interaction with TGFB1I1 (By similarity).					soluble fraction	SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AACTTCCAGGGAAAAATGAAT	0.353												
KRIT1	889	broad.mit.edu	37	7	91870426	91870426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:91870425_91870425CT>C	uc003ulr.1	-	4	1036	c.144_144AG>G	c.(142-144)aagfs	p.K48fs	KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulq.1_Frame_Shift_Del_p.K48fs|KRIT1_uc003uls.1_Frame_Shift_Del_p.K48fs|KRIT1_uc003ult.1_Frame_Shift_Del_p.K48fs|KRIT1_uc003ulu.1_Frame_Shift_Del_p.K48fs|KRIT1_uc003ulv.1_Frame_Shift_Del_p.K48fs	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	48					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTTCTTTCTCTTTTTTTTCT	0.338												
ZNF655	79027	broad.mit.edu	37	7	99170525	99170525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:99170524_99170524GA>G	uc010lga.3	+	3	1291	c.898_898GA>G	c.(898-900)gaafs	p.E300fs	ZNF655_uc003urh.3_Frame_Shift_Del_p.E265fs|ZNF655_uc010lgc.3_Frame_Shift_Del_p.E300fs|ZNF655_uc003urj.3_Frame_Shift_Del_p.E265fs|ZNF655_uc003urk.3_Frame_Shift_Del_p.E102fs|ZNF655_uc010lgd.3_Frame_Shift_Del_p.E102fs	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN	Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.	265					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ACACACTAGAGAAAAACCTTA	0.373												
GPC2	221914	broad.mit.edu	37	7	99773286	99773286	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:99773285_99773285AG>A	uc003utv.3	-	2	726	c.558_558CT>T	c.(556-558)cctfs	p.P186fs	GPC2_uc010lgr.3_Non-coding_Transcript|GPC2_uc003utw.1_Frame_Shift_Del_p.P186fs|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	186						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGTAGTCAGGGGGGAAGC	0.632												
PCOLCE	5118	broad.mit.edu	37	7	100201128	100201128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:100201127_100201127AC>A	uc003uvo.3	+	1	368	c.170_170AC>A	c.(169-171)tacfs	p.Y57fs	LOC100129845_uc011kjy.2_Intron|LOC100129845_uc022air.1_5'Flank|PCOLCE_uc011kkb.1_Frame_Shift_Del_p.Y57fs	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	57	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCAACCTCTACCCCCCTAAT	0.547												
PLOD3	8985	broad.mit.edu	37	7	100855927	100855927	+	Frame_Shift_Del	DEL	G	G	-	rs138002558	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:100855926_100855926CG>C	uc003uyd.3	-	8	1346	c.890_890CG>G	c.(889-891)cggfs	p.R297fs		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	297					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(2)|p.P296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGAAACACCCGGGGGGGAGG	0.642												
C7orf53	286006	broad.mit.edu	37	7	112127037	112127038	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:112127036_112127037G>GT	uc011kmq.2	+	2	321_322	c.186_187G>GT	c.(184-189)ctgtttfs	p.L62fs	C7orf53_uc003vgl.3_Non-coding_Transcript|C7orf53_uc003vgm.3_Frame_Shift_Ins_p.L62fs	NM_001134468	NP_872403	Q8N8F7	CG053_HUMAN	Homo sapiens chromosome 7 open reading frame 53 (C7orf53), transcript variant 2, mRNA.	62						integral to membrane				endometrium(1)|large_intestine(2)|ovary(1)	4						GCCGGAGTCTGTTTTTTGTGGG	0.401												
TAS2R16	50833	broad.mit.edu	37	7	122635425	122635425	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:122635424_122635424TA>T	uc003vkl.1	-	0	331	c.265_265TA>A	c.(265-267)aatfs	p.N89fs		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	89					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.N89S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTAAGGATATTAAAAAATTCC	0.383												
ZNF800	168850	broad.mit.edu	37	7	127014605	127014605	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:127014604_127014604CT>C	uc010lla.2	-	4	1498	c.786_786AG>G	c.(784-786)aagfs	p.K262fs	ZNF800_uc003vlw.1_Frame_Shift_Del_p.K165fs|ZNF800_uc003vlx.1_Frame_Shift_Del_p.K262fs|ZNF800_uc003vly.1_Frame_Shift_Del_p.K262fs	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTTCAATGTACTTTTTTAGTT	0.353												
FLNC	2318	broad.mit.edu	37	7	128481391	128481391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:128481390_128481390CG>C	uc003vnz.4	+	11	2189	c.1980_1980CG>C	c.(1978-1980)cccfs	p.P660fs	FLNC_uc003voa.4_Frame_Shift_Del_p.P660fs	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	660					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACATCCTGCCCGCCCCACCTG	0.632												
LRGUK	136332	broad.mit.edu	37	7	133863282	133863282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:133863281_133863281TC>T	uc003vrm.1	+	9	1150	c.1134_1134TC>T	c.(1132-1134)cctfs	p.P378fs		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	378							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AATATGATCCTCCCCCTGAAG	0.403												
OR9A2	135924	broad.mit.edu	37	7	142723617	142723617	+	Frame_Shift_Del	DEL	A	A	-	rs77663674		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr7:142723616_142723616TA>T	uc003wcc.1	-	0	604	c.604_604TA>A	c.(604-606)attfs	p.I202fs		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CCAATGAGAATAAAAACAGCC	0.443												
TNKS	8658	broad.mit.edu	37	8	9567544	9567544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:9567543_9567543GA>G	uc003wss.3	+	9	1662	c.1657_1657GA>G	c.(1657-1659)gaafs	p.E553fs	TNKS_uc011kwv.1_Frame_Shift_Del_p.E553fs|TNKS_uc011kww.2_Frame_Shift_Del_p.E316fs	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	553					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|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	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAATGTTAATGAAAAAAATAA	0.343												
CSGALNACT1	55790	broad.mit.edu	37	8	19263296	19263296	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:19263295_19263295GT>G	uc011kyn.2	-	9	2659	c.1595_1595AC>C	c.(1594-1596)acafs	p.T532fs	CSGALNACT1_uc011kyo.2_Frame_Shift_Del_p.T532fs|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Frame_Shift_Del_p.T532fs	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	532					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGGAGTTCATGTTTTTTTGCT	0.463												
NPM2	10361	broad.mit.edu	37	8	21891670	21891675	+	In_Frame_Del	DEL	GAGGAA	GAGGAA	-	rs145115346		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:21891669_21891674GGAGGAA>G	uc003xac.3	+	6	1044_1049	c.414_419GGAGGAA>G	c.(412-420)gaggaggaa>gaGa	p.138_140EEE>E	NPM2_uc003xad.3_In_Frame_Del_p.138_140EEE>E|NPM2_uc003xae.3_In_Frame_Del_p.138_140EEE>E|NPM2_uc003xaf.3_Intron	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	Homo sapiens nucleophosmin/nucleoplasmin 2 (NPM2), mRNA.	138	Poly-Glu.				chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		aaggggaggaggaggaagaggaagag	0.519												
EPB49	2039	broad.mit.edu	37	8	21926552	21926552	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:21926551_21926551TC>T	uc022asw.1	+	3	312	c.274_274TC>T	c.(274-276)tccfs	p.S92fs	EPB49_uc022asq.1_Frame_Shift_Del_p.S92fs|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Frame_Shift_Del_p.S92fs|EPB49_uc022ass.1_Frame_Shift_Del_p.S67fs|EPB49_uc022ast.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asu.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asv.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asx.1_Frame_Shift_Del_p.S92fs|EPB49_uc022asy.1_Frame_Shift_Del_p.S67fs	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	92					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		CAAATCCACATCCCCCCCACC	0.607												
FZD3	7976	broad.mit.edu	37	8	28409242	28409242	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:28409241_28409241GT>G	uc003xgx.3	+	5	2055	c.1526_1526GT>G	c.(1525-1527)agtfs	p.S509fs	FZD3_uc010lvb.3_Frame_Shift_Del_p.S509fs	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	509					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	p.A508A(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GAATGGGCCAGTTTTTTTCAT	0.358												
RB1CC1	9821	broad.mit.edu	37	8	53568877	53568877	+	Frame_Shift_Del	DEL	T	T	-	rs138517468		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:53568876_53568876GT>G	uc003xre.4	-	14	4071	c.3513_3513AC>C	c.(3511-3513)aacfs	p.N1171fs	RB1CC1_uc003xrf.4_Frame_Shift_Del_p.N1171fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	1171					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding	p.N1171fs*8(2)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GTTCTTTTAGGTTTTTTTCTA	0.289												
RB1CC1	9821	broad.mit.edu	37	8	53569498	53569498	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:53569497_53569497CT>C	uc003xre.4	-	14	3450	c.2892_2892AG>G	c.(2890-2892)aagfs	p.K964fs	RB1CC1_uc003xrf.4_Frame_Shift_Del_p.K964fs	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	964					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAACATGGAGCTTTTTTAAGT	0.353												
CYP7B1	9420	broad.mit.edu	37	8	65509466	65509466	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:65509465_65509465TA>T	uc003xvj.2	-	5	1459	c.1255_1255TA>A	c.(1255-1257)atafs	p.I419fs		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	419					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CCATCTTCTATAAAACGATCA	0.363												
KCNB2	9312	broad.mit.edu	37	8	73480397	73480398	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:73480396_73480397C>CA	uc003xzb.3	+	1	1015_1016	c.427_428C>CA	c.(427-429)caafs	p.Q143fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q143K(2)|p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGATATCATCAAAAAAAAGAA	0.446												
KCNB2	9312	broad.mit.edu	37	8	73849869	73849869	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:73849868_73849868AC>A	uc003xzb.3	+	2	2866	c.2278_2278AC>A	c.(2278-2280)accfs	p.T760fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	760					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTTAGAAGAAACCCCCTCCCA	0.592												
FZD6	8323	broad.mit.edu	37	8	104340619	104340619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:104340618_104340618GT>G	uc003ylh.3	+	4	1805	c.1515_1515GT>G	c.(1513-1515)gggfs	p.G505fs	FZD6_uc011lhn.2_Frame_Shift_Del_p.G473fs|FZD6_uc003ylj.3_Frame_Shift_Del_p.G505fs|FZD6_uc011lho.2_Frame_Shift_Del_p.G200fs|FZD6_uc011lhp.2_Frame_Shift_Del_p.G450fs	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	505					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|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)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AATGGGCTGGGTTTTTTAAAC	0.333												
OXR1	55074	broad.mit.edu	37	8	107723021	107723021	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:107723020_107723020TA>T	uc011lht.2	+	9	1895	c.1796_splice	c.e9+2	p.R599_splice	OXR1_uc022azp.1_Splice_Site_p.R598_splice|OXR1_uc003ymf.3_Splice_Site_p.R598_splice|OXR1_uc011lhu.2_Splice_Site_p.R591_splice|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Splice_Site_p.R296_splice	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	599					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ACAAGAAAGGTAAAAAACCCA	0.333												
PKHD1L1	93035	broad.mit.edu	37	8	110509434	110509434	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:110509433_110509433AT>A	uc003yne.3	+	64	10635	c.10531_10531AT>A	c.(10531-10533)attfs	p.I3511fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3511					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.M3511I(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGAATGGCCATTTTTCCAAT	0.353										HNSCC(38;0.096)		
ASAP1	50807	broad.mit.edu	37	8	131226887	131226887	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:131226886_131226886TA>T	uc003yta.2	-	4	549	c.321_321TA>A	c.(319-321)ttafs	p.L107fs	ASAP1_uc011liw.2_Frame_Shift_Del_p.L100fs	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	107					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGTCTCGACTTAAAAAATTAC	0.358												
SLC45A4	57210	broad.mit.edu	37	8	142221700	142221700	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr8:142221699_142221699AT>A	uc003ywd.1	-	7	2547	c.2239_2239AT>T	c.(2239-2241)tttfs	p.F747fs	SLC45A4_uc022bbx.1_5'Flank|SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_Frame_Shift_Del_p.I747fs	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	0					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGAAAAGAAAATTTTTTTTCT	0.448												
KIAA2026	158358	broad.mit.edu	37	9	5968162	5968162	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:5968161_5968161CT>C	uc003zjq.4	-	2	2286	c.2070_2070AG>G	c.(2068-2070)aagfs	p.K690fs		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	690	Lys-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTTTCAATTTCTTTTTTTTCT	0.328												
AQP3	360	broad.mit.edu	37	9	33442934	33442934	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:33442933_33442933CA>C	uc003zsx.3	-	3	512	c.409_409TG>G	c.(409-411)gttfs	p.V137fs	AQP3_uc010mju.3_Frame_Shift_Del_p.V137fs|AQP3_uc003zsv.2_3'UTR	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	137				V -> A (in Ref. 4; CAG46822).	excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GGGCCCGAAACAAAAAGCTGG	0.552												
RNF38	152006	broad.mit.edu	37	9	36342424	36342424	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:36342423_36342423TA>T	uc003zzh.3	-	11	1577	c.1386_splice	c.e11-1	p.L462_splice	RNF38_uc003zzi.3_Splice_Site_p.L412_splice|RNF38_uc003zzj.3_Splice_Site_p.L379_splice|RNF38_uc003zzk.3_Splice_Site_p.L379_splice|RNF38_uc003zzl.3_Splice_Site_p.L386_splice|RNF38_uc003zzm.3_Splice_Site_p.L379_splice	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	462							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACTACACACCTAAAAAAAGCA	0.358												
DAPK1	1612	broad.mit.edu	37	9	90252903	90252904	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:90252902_90252903CTT>C	uc004apc.3	+	3	467_468	c.329_330CTT>C	c.(328-330)tctfs	p.S110fs	DAPK1_uc004ape.3_Frame_Shift_Del_p.S110fs|DAPK1_uc004apd.3_Frame_Shift_Del_p.S110fs|DAPK1_uc011ltg.2_Frame_Shift_Del_p.S110fs|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	110	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GAAAAGGAATCTTTAACTGAAG	0.411									Chronic Lymphocytic Leukemia, Familial Clustering of			
SEMA4D	10507	broad.mit.edu	37	9	91978832	91978834	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:91978831_91978833ATTC>A	uc011ltm.1	-	18	2487_2489	c.1915_1917GAAT>T	c.(1915-1917)aat>T	p.N639del	SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aql.2_Non-coding_Transcript|SEMA4D_uc004aqm.2_Non-coding_Transcript	NM_001142287	NP_001135759	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 2, mRNA.	0					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GAGCTCGCCCATTCTTCTCCCAG	0.596												
RAD23B	5887	broad.mit.edu	37	9	110062486	110062486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:110062485_110062485CA>C	uc004bde.3	+	1	524	c.130_130CA>C	c.(130-132)caafs	p.Q44fs	RAD23B_uc011lwa.2_Frame_Shift_Del_p.Q44fs|RAD23B_uc022blj.1_5'UTR|RAD23B_uc011lwb.2_Frame_Shift_Del_p.Q23fs	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	44	Ubiquitin-like.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGTAGCAGGTCAAAAATTAAT	0.279								Direct reversal of damage;Nucleotide excision repair (NER)				
ABL1	25	broad.mit.edu	37	9	133760024	133760024	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:133760023_133760023TC>T	uc004bzw.3	+	10	2349	c.2346_2346TC>T	c.(2344-2346)cctfs	p.P782fs	ABL1_uc004bzv.3_Frame_Shift_Del_p.P801fs	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	782	Pro-rich.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CAGTAACGCCTCCCCCCAGGC	0.592			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""							
GTF3C4	9329	broad.mit.edu	37	9	135554691	135554692	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:135554690_135554691G>GA	uc010mzv.3	+	1	1942_1943	c.1684_1685G>GA	c.(1684-1686)gaafs	p.E562fs	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	562					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AGAAGCTTTGGAAAAAAAGATT	0.351												
WDR5	11091	broad.mit.edu	37	9	137019598	137019599	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:137019597_137019598A>AC	uc004cey.3	+	9	812_813	c.641_642A>AC	c.(640-642)aacfs	p.N214fs	WDR5_uc004cez.3_Frame_Shift_Ins_p.N214fs	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	214					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GATGACGACAACCCCCCCGTGT	0.624												
SEC16A	9919	broad.mit.edu	37	9	139369409	139369412	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:139369408_139369411CCAGA>C	uc004chx.3	-	2	2966_2969	c.2657_2660TCTGG>G	c.(2656-2661)tctgggfs	p.S886fs	SEC16A_uc004chv.4_Intron|SEC16A_uc004chw.3_Frame_Shift_Del_p.S886fs|SEC16A_uc010nbn.3_Frame_Shift_Del_p.S886fs|SEC16A_uc010nbo.1_Frame_Shift_Del_p.S886fs	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	708					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTTGGAATCCCAGACAAAGAAGT	0.500												
TPRN	286262	broad.mit.edu	37	9	140093439	140093441	+	Splice_Site	DEL	CTT	CTT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr9:140093438_140093440CCTT>C	uc004clt.3	-	1	1725	c.1725_splice	c.e1+1	p.K575_splice	TPRN_uc004clu.3_Splice_Site_p.K575_splice	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	575					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CCACCACTGACCTTCTTTCTTGA	0.626												
TAF3	83860	broad.mit.edu	37	10	8006284	8006284	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:8006283_8006283TA>T	uc010qbd.2	+	2	810	c.810_810TA>T	c.(808-810)cctfs	p.P270fs		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	270					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CATTTACACCTAAAACAAAGA	0.453												
OPTN	10133	broad.mit.edu	37	10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:13151191_13151191AC>A	uc001ilu.1	+	3	507	c.69_69AC>A	c.(67-69)ggafs	p.G23fs	OPTN_uc001ilv.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ily.1_Frame_Shift_Del_p.G23fs|OPTN_uc010qbr.1_5'UTR	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	23					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGGAAATGGACCCCCCCACC	0.562												
KIAA1217	56243	broad.mit.edu	37	10	24832910	24832911	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:24832909_24832910G>GA	uc001iru.4	+	18	5113_5114	c.4710_4711G>GA	c.(4708-4713)aagaaafs	p.K1570fs	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Frame_Shift_Ins_p.K1253fs|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Frame_Shift_Ins_p.K406fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1570					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAGCCCCAAGAAAAAGTTTAA	0.465												
ARHGAP12	94134	broad.mit.edu	37	10	32120692	32120692	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:32120691_32120691AT>A	uc001ivz.1	-	9	1694	c.1424_1424AT>T	c.(1423-1425)attfs	p.I475fs	ARHGAP12_uc001ivy.1_Frame_Shift_Del_p.I421fs|ARHGAP12_uc009xls.2_Frame_Shift_Del_p.I426fs|ARHGAP12_uc001iwb.1_Frame_Shift_Del_p.I468fs|ARHGAP12_uc001iwc.1_Frame_Shift_Del_p.I443fs|ARHGAP12_uc009xlq.1_Frame_Shift_Del_p.I396fs|ARHGAP12_uc009xlr.1_Frame_Shift_Del_p.I473fs	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	475	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ATTTTCAGCAATTTTTGTTAC	0.279												
SGMS1	259230	broad.mit.edu	37	10	52103731	52103731	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:52103730_52103730AG>A	uc001jje.3	-	6	1099	c.145_145CT>T	c.(145-147)ttgfs	p.L49fs	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Frame_Shift_Del_p.L49fs|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Frame_Shift_Del_p.L49fs|SGMS1_uc021pqo.1_Frame_Shift_Del_p.L49fs|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	55	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.L49fs*15(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ACTCGGCACAAGGGGGGTTTT	0.512												
MBL2	4153	broad.mit.edu	37	10	54530516	54530516	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:54530515_54530515AG>A	uc001jjt.3	-	1	284	c.219_219CT>T	c.(217-219)cctfs	p.P73fs		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	73	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	p.P72P(1)		breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCAACTTTCCAGGGGGGCCCT	0.527												
PLAU	5328	broad.mit.edu	37	10	75673438	75673438	+	Frame_Shift_Del	DEL	G	G	-	rs145070893	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:75673437_75673437CG>C	uc001jwa.3	+	6	747	c.601_601CG>C	c.(601-603)cggfs	p.R201fs	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Frame_Shift_Del_p.R184fs|PLAU_uc010qkx.2_Frame_Shift_Del_p.R115fs|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Frame_Shift_Del_p.R201fs|PLAU_uc009xrq.1_Frame_Shift_Del_p.R165fs	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	201	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CAGGAGGCACCGGGGGGGCTC	0.587												
LIPK	643414	broad.mit.edu	37	10	90492222	90492223	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:90492221_90492222A>AT	uc010qmv.2	+	4	582_583	c.582_583A>AT	c.(580-585)atatttfs	p.I194fs		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	194					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		AGATTAAGATATTTTTTGCACT	0.356												
ZNF518A	9849	broad.mit.edu	37	10	97919393	97919393	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:97919392_97919392GT>G	uc001klp.3	+	5	4170	c.3313_3313GT>G	c.(3313-3315)gttfs	p.V1105fs	ZNF518A_uc001klo.1_Frame_Shift_Del_p.V575fs|ZNF518A_uc001klq.3_Frame_Shift_Del_p.V1105fs|ZNF518A_uc001klr.3_Frame_Shift_Del_p.V1105fs	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	1105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CAAACAAGCTGTTTTTTTAAA	0.363												
TDRD1	56165	broad.mit.edu	37	10	115987018	115987018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:115987017_115987017CA>C	uc001lbg.1	+	22	3515	c.3362_3362CA>C	c.(3361-3363)gcafs	p.A1121fs	TDRD1_uc001lbf.3_Frame_Shift_Del_p.A998fs|TDRD1_uc001lbh.1_Frame_Shift_Del_p.A1108fs|TDRD1_uc001lbi.1_Frame_Shift_Del_p.A1112fs|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Frame_Shift_Del_p.A830fs	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	1121					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTTGGTCTGGCAAAAAACATC	0.363												
TDRD1	56165	broad.mit.edu	37	10	115987869	115987869	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:115987868_115987868GA>G	uc001lbg.1	+	24	3675	c.3522_3522GA>G	c.(3520-3522)atgfs	p.M1174fs	TDRD1_uc001lbf.3_Frame_Shift_Del_p.M1051fs|TDRD1_uc001lbh.1_Frame_Shift_Del_p.M1161fs|TDRD1_uc001lbi.1_Frame_Shift_Del_p.M1165fs|TDRD1_uc010qsc.2_Frame_Shift_Del_p.M702fs|TDRD1_uc001lbj.3_Frame_Shift_Del_p.M883fs	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	1174					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTATTGAAATGAAAAAACTGT	0.313												
GFRA1	2674	broad.mit.edu	37	10	117849274	117849274	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:117849273_117849273CA>C	uc001lcj.3	-	8	1874	c.1176_1176TG>G	c.(1174-1176)ttgfs	p.L392fs	GFRA1_uc001lci.3_Frame_Shift_Del_p.L387fs|GFRA1_uc009xyr.3_Frame_Shift_Del_p.L387fs	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	392					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CACACGGTGGCAAAACATGAG	0.557												
RAB11FIP2	22841	broad.mit.edu	37	10	119798647	119798647	+	Frame_Shift_Del	DEL	T	T	-	rs35192242		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:119798646_119798646CT>C	uc001ldj.2	-	2	1542	c.1102_1102AG>G	c.(1102-1104)gatfs	p.D368fs	RAB11FIP2_uc009xyz.2_Frame_Shift_Del_p.D368fs	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	368					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		CTTCTGCTATCTTTTTTTCCA	0.338												
INPP5F	22876	broad.mit.edu	37	10	121587003	121587003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:121587002_121587002CA>C	uc001leo.3	+	19	3325	c.3109_3109CA>C	c.(3109-3111)caafs	p.Q1037fs	INPP5F_uc001lep.3_Frame_Shift_Del_p.Q427fs	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	1037							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)		AGTTGCATCTCAAAAAACCCC	0.502												
TACC2	10579	broad.mit.edu	37	10	123970380	123970380	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:123970379_123970379AC>A	uc001lfv.3	+	8	6799	c.6439_6439AC>A	c.(6439-6441)accfs	p.T2147fs	TACC2_uc001lfw.3_Frame_Shift_Del_p.T293fs|TACC2_uc009xzx.3_Frame_Shift_Del_p.T2102fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.T2151fs|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Frame_Shift_Del_p.T225fs|TACC2_uc001lga.3_Frame_Shift_Del_p.T225fs|TACC2_uc009xzy.3_Frame_Shift_Del_p.T225fs|TACC2_uc001lgb.3_Frame_Shift_Del_p.T182fs|TACC2_uc010qtw.1_Frame_Shift_Del_p.T242fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2147						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCCACAGAGACCCCCCCAGT	0.517												
BTBD16	118663	broad.mit.edu	37	10	124066813	124066813	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr10:124066812_124066812AT>A	uc001lgc.1	+	9	1151	c.900_900AT>A	c.(898-900)acafs	p.T300fs	BTBD16_uc001lgd.1_Frame_Shift_Del_p.T299fs	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	300										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCGTGATGACATTTTTTAAGA	0.358												
KRTAP5-5	439915	broad.mit.edu	37	11	1651725	1651726	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:1651724_1651725C>CA	uc001lty.3	+	0	692_693	c.654_655C>CA	c.(652-657)tacaagfs	p.Y218fs	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	218	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCAGCTGCTACAAGCCCTGCTG	0.594												
OR2AG2	338755	broad.mit.edu	37	11	6789985	6789986	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:6789984_6789985TGA>T	uc001meq.1	-	0	204_205	c.204_205TCA>A	c.(202-207)ctcatgfs	p.L68fs		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGAGGTCCATGAGAGAGAGCT	0.545												
STK33	65975	broad.mit.edu	37	11	8496262	8496262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:8496261_8496261AT>A	uc001mgi.1	-	0	1111	c.192_192AT>T	c.(190-192)aatfs	p.N64fs	STK33_uc001mgj.1_Frame_Shift_Del_p.N64fs|STK33_uc001mgk.1_Frame_Shift_Del_p.N64fs|STK33_uc010rbn.1_Frame_Shift_Del_p.N23fs|STK33_uc001mgl.3_Intron|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	64						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CTCTGTTGATATTTTTTTCTT	0.378												
ZNF143	7702	broad.mit.edu	37	11	9501082	9501082	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:9501081_9501081GA>G	uc001mhr.3	+	6	752	c.633_633GA>G	c.(631-633)gagfs	p.E211fs	ZNF143_uc009yfu.3_Frame_Shift_Del_p.E210fs|ZNF143_uc010rby.2_Frame_Shift_Del_p.E180fs|DM376721_uc021qdo.1_5'Flank	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	211					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ATGAGCAAGAGAAAAAAATGC	0.333												
CALCA	796	broad.mit.edu	37	11	14991489	14991490	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:14991488_14991489C>CCT	uc001mlv.1	-	2	270_271	c.219_220G>AGG	c.(217-222)gagggcfs	p.E73fs	CALCA_uc001mlt.2_Frame_Shift_Ins_p.E73fs|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Frame_Shift_Ins_p.E73fs	NM_001741	NP_001732	P06881	CALCA_HUMAN	Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	73					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CACCTGGAGCCCTCTCTCTCTT	0.624											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPTY2D1	144108	broad.mit.edu	37	11	18637173	18637173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:18637172_18637172GT>G	uc001moy.3	-	2	865	c.649_649AC>C	c.(649-651)cttfs	p.L217fs	SPTY2D1_uc010rdi.1_Frame_Shift_Del_p.L217fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	217								p.K216fs*254(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TCTGTCTCAAGTTTTTTTCTC	0.443												
NAT10	55226	broad.mit.edu	37	11	34129782	34129782	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:34129781_34129781GA>G	uc001mvk.3	+	1	253	c.9_9GA>G	c.(7-9)cggfs	p.R3fs	NAT10_uc010ren.2_Intron	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	3						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCATGCATCGGAAAAAGGTGG	0.438												
APIP	51074	broad.mit.edu	37	11	34904909	34904909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:34904908_34904908TC>T	uc010reo.1	-	6	808	c.656_656GA>A	c.(655-657)gaafs	p.E219fs	APIP_uc001mvs.2_Frame_Shift_Del_p.E202fs			Q96GX9	MTNB_HUMAN	Homo sapiens APAF1 interacting protein (APIP), mRNA.	202					L-methionine salvage|apoptosis	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACAC	0.453												
ACP2	53	broad.mit.edu	37	11	47266285	47266285	+	Splice_Site	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:47266284_47266284AC>A	uc001nei.3	-	7	889	c.772_splice	c.e7+1	p.G258_splice	ACP2_uc010rhe.2_Splice_Site_p.G230_splice|ACP2_uc009ylj.3_Splice_Site_p.G186_splice|ACP2_uc010rhf.2_Splice_Site_p.G226_splice|ACP2_uc010rhg.2_Splice_Site_p.G195_splice|ACP2_uc010rhh.2_Splice_Site_p.G71_splice|ACP2_uc009ylk.2_Splice_Site_p.G225_splice|ACP2_uc010rhi.1_Splice_Site_p.G71_splice	NM_001610	NP_001601	P11117	PPAL_HUMAN	Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNA.	258						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CTTGTCACTCACCCCCCTGAA	0.562												
FTH1	2495	broad.mit.edu	37	11	61732517	61732517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:61732516_61732516AT>A	uc001nsu.3	-	2	565	c.330_330AT>T	c.(328-330)aatfs	p.N110fs		NM_002032	NP_002023	P02794	FRIH_HUMAN	Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA.	110	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	ACTGATTCACATTTTTTTCCA	0.428												
RTN3	10313	broad.mit.edu	37	11	63487620	63487620	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:63487619_63487619GA>G	uc001nxq.3	+	2	1832	c.1645_1645GA>G	c.(1645-1647)gaafs	p.E549fs	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Frame_Shift_Del_p.E437fs|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Frame_Shift_Del_p.E530fs|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	549					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGAGAGAGAAGAAAAAACATC	0.393												
NRXN2	9379	broad.mit.edu	37	11	64427829	64427830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:64427828_64427829G>GC	uc021qkw.1	-	10	2826_2827	c.2364_2365C>GC	c.(2362-2367)gggcagfs	p.G788fs	NRXN2_uc021qkx.1_Frame_Shift_Ins_p.G757fs|NRXN2_uc001oas.3_Frame_Shift_Ins_p.G757fs|NRXN2_uc001oaq.3_Frame_Shift_Ins_p.G455fs	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	788	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGCTTCATCTGCCCCCCATCCA	0.609												
SLC25A45	283130	broad.mit.edu	37	11	65144119	65144119	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65144118_65144118GC>G	uc001odr.1	-	6	831	c.627_627GC>C	c.(625-627)ggcfs	p.G209fs	SLC25A45_uc009yqi.1_Frame_Shift_Del_p.G147fs|SLC25A45_uc001odq.1_Frame_Shift_Del_p.G185fs|SLC25A45_uc001ods.1_Frame_Shift_Del_p.G167fs|SLC25A45_uc001odt.1_Frame_Shift_Del_p.G167fs	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	209					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGCCTGCAAAGCCCCCTGCCA	0.612												
DRAP1	10589	broad.mit.edu	37	11	65688801	65688801	+	Splice_Site	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:65688800_65688800GC>G	uc001ogj.2	+	7	758	c.513_splice	c.e7-1	p.S171_splice	C11orf68_uc001ogi.3_5'Flank|C11orf68_uc009yqv.3_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	Homo sapiens DR1-associated protein 1 (negative cofactor 2 alpha) (DRAP1), mRNA.	171	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		CTGCCCTGCAGCCCCCCGACA	0.667												
C11orf24	53838	broad.mit.edu	37	11	68029489	68029490	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:68029488_68029489CTG>C	uc001onr.4	-	3	1416_1417	c.974_975CAG>G	c.(973-975)cagfs	p.Q325fs		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	325	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TGGGGCTTGGCTGTGTCGTGGG	0.624												
CTTN	2017	broad.mit.edu	37	11	70275243	70275244	+	Frame_Shift_Del	DEL	GA	GA	-	rs114157745	byFrequency	TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:70275242_70275243GGA>G	uc001opv.4	+	13	1319_1320	c.1113_1114GGA>G	c.(1111-1116)gcggagfs	p.A371fs	CTTN_uc001opu.3_Frame_Shift_Del_p.A334fs|CTTN_uc001opw.4_Frame_Shift_Del_p.A334fs|CTTN_uc010rqm.2_Frame_Shift_Del_p.A55fs|CTTN_uc001opx.3_Frame_Shift_Del_p.A55fs	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	371						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGGCGGAGGCGGAGAGAGCCCA	0.594												
ALG8	79053	broad.mit.edu	37	11	77832193	77832193	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:77832192_77832192CT>C	uc001oza.1	-	3	462	c.397_397AG>G	c.(397-399)gtgfs	p.V133fs	ALG8_uc001oyz.1_Frame_Shift_Del_p.V133fs|ALG8_uc009yuy.1_Non-coding_Transcript	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	Homo sapiens asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG8), transcript variant 1, mRNA.	133					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TCTTTACCCACTTTTTTTCCA	0.353												
ODZ4	26011	broad.mit.edu	37	11	78449566	78449566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:78449565_78449565AG>A	uc001ozl.4	-	19	3270	c.2807_2807CT>T	c.(2806-2808)ctgfs	p.L936fs		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	936					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CACACCAACCAGGGGGGTTCC	0.458												
MMP12	4321	broad.mit.edu	37	11	102743627	102743627	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:102743626_102743626GC>G	uc001phk.3	-	1	416	c.319_319GC>C	c.(319-321)cccfs	p.P107fs		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	107					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CTCCATACGGGCCCCCCTGGC	0.502												
CASP5	838	broad.mit.edu	37	11	104874019	104874020	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:104874018_104874019TAC>T	uc010ruz.1	-	3	596_597	c.564_565GTA>A	c.(562-567)tgtaaafs	p.C188fs	CASP5_uc010rva.1_Frame_Shift_Del_p.C175fs|CASP5_uc010rvb.1_Frame_Shift_Del_p.C117fs|CASP5_uc010rvc.1_Frame_Shift_Del_p.C33fs|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	175					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.D188H(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TGATTTTTTTTACACAGTCTCA	0.401												
ATM	472	broad.mit.edu	37	11	108216477	108216477	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:108216476_108216476CA>C	uc001pkb.1	+	57	8810	c.8425_8425CA>C	c.(8425-8427)caafs	p.Q2809fs	ATM_uc009yxr.1_Frame_Shift_Del_p.Q2809fs|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Frame_Shift_Del_p.Q1461fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2809	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAAGGAGGTGCAAAAAAAGTC	0.274			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)		
DSCAML1	57453	broad.mit.edu	37	11	117651445	117651445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr11:117651444_117651444AC>A	uc001prh.1	-	1	310	c.308_308GT>T	c.(307-309)gtgfs	p.V103fs	DSCAML1_uc001pri.1_5'UTR	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	43	Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGCACCACCACCCCCACGGA	0.657												
TECTA	7007	broad.mit.edu	37	11	121000373	121000373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	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												
FOXM1	2305	broad.mit.edu	37	12	2968136	2968136	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:2968135_2968135AG>A	uc001qlf.3	-	8	2244	c.1961_1961CT>T	c.(1960-1962)ctgfs	p.L654fs	LOC100507424_uc021qtc.1_Intron|FOXM1_uc001qle.3_Frame_Shift_Del_p.L692fs|FOXM1_uc009zea.3_Frame_Shift_Del_p.L639fs|FOXM1_uc009zeb.3_Frame_Shift_Del_p.L638fs|FOXM1_uc001qlg.3_Frame_Shift_Del_p.L639fs	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	654					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CATCAGCCCCAGGGGGTCAGG	0.597												
PRMT8	56341	broad.mit.edu	37	12	3649780	3649780	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:3649779_3649779GC>G	uc001qmf.3	+	1	450	c.83_83GC>G	c.(82-84)agcfs	p.S28fs	PRMT8_uc009zed.3_Frame_Shift_Del_p.S19fs|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	28					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGGTGAACAGCCCCCCCTCC	0.662												
PRB3	5544	broad.mit.edu	37	12	11420683	11420683	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:11420682_11420682TG>T	uc001qzs.3	-	2	539	c.501_501CA>A	c.(499-501)ccafs	p.P167fs	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	167	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCCTCCTTGTGGGGGTGGTC	0.652												
PLCZ1	89869	broad.mit.edu	37	12	18872569	18872569	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:18872568_18872568TA>T	uc021qvx.1	-	5	559	c.368_splice	c.e5-1	p.V123_splice	PLCZ1_uc001rdv.4_Splice_Site_p.V19_splice|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc009zil.1_Splice_Site	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	123					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTTTCCTAACtaaaaaaataa	0.279												
YAF2	10138	broad.mit.edu	37	12	42555564	42555564	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:42555563_42555563GT>G	uc001rmw.3	-	3	401	c.229_229AC>C	c.(229-231)cctfs	p.P77fs	YAF2_uc010sko.2_Frame_Shift_Del_p.P44fs|YAF2_uc001rmv.3_Frame_Shift_Del_p.P53fs|YAF2_uc010skp.2_Frame_Shift_Del_p.P11fs	NM_001190979	NP_001177908	Q8IY57	YAF2_HUMAN	Homo sapiens YY1 associated factor 2 (YAF2), transcript variant 1, mRNA.	53					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		ACAGGTCGAGGTTTCCTGTGT	0.338												
FAM113B	91523	broad.mit.edu	37	12	47628998	47628998	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:47628997_47628997AG>A	uc001rpq.3	+	1	676	c.151_151AG>A	c.(151-153)aggfs	p.R51fs	FAM113B_uc001rpn.3_Frame_Shift_Del_p.R51fs|FAM113B_uc021qxi.1_Frame_Shift_Del_p.R51fs	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	51							hydrolase activity	p.R51G(2)|p.R51R(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GCTTAGAGCAAGGGGGGAGCT	0.612												
MLL2	8085	broad.mit.edu	37	12	49434492	49434492	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:49434491_49434491AG>A	uc001rta.4	-	30	7062	c.7062_7062CT>T	c.(7060-7062)cctfs	p.P2354fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2354	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			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						AAGCCTGGGCAGGGGGTGGCT	0.627			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
DCD	117159	broad.mit.edu	37	12	55039010	55039010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:55039009_55039009TC>T	uc001sgj.3	-	3	299	c.237_237GA>A	c.(235-237)ggafs	p.G79fs	DCD_uc009znt.3_Frame_Shift_Del_p.G79fs|DCD_uc009znu.3_Non-coding_Transcript	NM_053283	NP_444513	P81605	DCD_HUMAN	Homo sapiens dermcidin (DCD), mRNA.	79					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				GTTTTCCGAGTCCCCCCACAG	0.478												
SHMT2	6472	broad.mit.edu	37	12	57627077	57627077	+	Frame_Shift_Del	DEL	G	G	-	rs35603162		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57627076_57627076AG>A	uc001snf.2	+	7	1177	c.971_971AG>A	c.(970-972)cagfs	p.Q324fs	SHMT2_uc001snh.2_Frame_Shift_Del_p.Q326fs|SHMT2_uc009zpk.2_Frame_Shift_Del_p.Q314fs|SHMT2_uc001sng.2_Frame_Shift_Del_p.Q220fs|SHMT2_uc001sni.2_Frame_Shift_Del_p.Q303fs|SHMT2_uc010srg.2_Frame_Shift_Del_p.Q333fs|SHMT2_uc010srh.2_Frame_Shift_Del_p.Q303fs|SHMT2_uc001snj.2_Frame_Shift_Del_p.Q228fs|SHMT2_uc010sri.2_Frame_Shift_Del_p.Q303fs|SHMT2_uc001snk.2_Frame_Shift_Del_p.Q228fs|SHMT2_uc010srj.2_5'UTR	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	324						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCATCCCTGCAGGGGGGCCCC	0.587												
GLI1	2735	broad.mit.edu	37	12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTG	0.597												
MBD6	114785	broad.mit.edu	37	12	57920916	57920916	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57920915_57920915CT>C	uc001soj.1	+	6	2211	c.1987_1987CT>C	c.(1987-1989)cttfs	p.L663fs	MBD6_uc001sok.1_Frame_Shift_Del_p.L530fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	663	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GTCCCCCCTACTTTTCCCCCC	0.652												
MBD6	114785	broad.mit.edu	37	12	57921732	57921733	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:57921731_57921732T>TG	uc001soj.1	+	8	2561_2562	c.2337_2338T>TG	c.(2335-2340)cctgggfs	p.P779fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.P646fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	779	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGCTCCTCCCTGGGGGGGGAGC	0.629												
USP15	9958	broad.mit.edu	37	12	62786091	62786091	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	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												
GRIP1	23426	broad.mit.edu	37	12	66839111	66839111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:66839110_66839110TG>T	uc001stk.3	-	10	1618	c.1377_1377CA>A	c.(1375-1377)ccafs	p.P459fs	GRIP1_uc010sta.1_Frame_Shift_Del_p.P403fs|GRIP1_uc001stj.3_Frame_Shift_Del_p.P241fs|GRIP1_uc001stm.3_Frame_Shift_Del_p.P459fs|GRIP1_uc001stl.1_Frame_Shift_Del_p.P351fs	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	511					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACCTCTCTGCTGGGCTGTCAG	0.453												
SLC6A15	55117	broad.mit.edu	37	12	85285889	85285889	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:85285888_85285888AT>A	uc001szv.3	-	1	505	c.12_12AT>T	c.(10-12)aatfs	p.N4fs	SLC6A15_uc010sul.2_Intron|SLC6A15_uc001szy.3_Frame_Shift_Del_p.N4fs	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	4					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CCACCTTGCTATTTTTGGGCA	0.333												
VPS29	51699	broad.mit.edu	37	12	110929816	110929816	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:110929815_110929815GT>G	uc001tqy.3	-	3	604	c.544_544AC>C	c.(544-546)cctfs	p.P182fs	VPS29_uc001tqw.3_Non-coding_Transcript|VPS29_uc001tqx.3_Frame_Shift_Del_p.P186fs|VPS29_uc001tqz.3_Non-coding_Transcript	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae) (VPS29), transcript variant 1, mRNA.	182					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGGCTTTAAGGTTTTTTGTAT	0.343												
TBX5	6910	broad.mit.edu	37	12	114841604	114841604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:114841603_114841603GC>G	uc001tvo.3	-	1	596	c.101_101GC>C	c.(100-102)gccfs	p.A34fs	TBX5_uc001tvp.3_Frame_Shift_Del_p.A34fs|TBX5_uc001tvq.3_Intron|TBX5_uc010syv.2_Frame_Shift_Del_p.A34fs	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	34				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTTGCTGGGGGCCCCGAGCGC	0.657												
DNAH10	196385	broad.mit.edu	37	12	124284938	124284938	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:124284937_124284937TA>T	uc001uft.4	+	14	2133	c.2108_splice	c.e14+2	p.R703_splice	DNAH10_uc010tav.1_Splice_Site_p.R245_splice|DNAH10_uc010taw.1_Splice_Site_p.R188_splice	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	703	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATTCCTTAGGTAAAAAAATTC	0.363												
DHX37	57647	broad.mit.edu	37	12	125449022	125449024	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr12:125449021_125449023AAGG>A	uc001ugy.3	-	14	2061_2063	c.1962_1964CCTT>T	c.(1960-1965)tccttc>tcTc	p.F655del		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	655	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	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)		GGTGACACGGAAGGAGGATACGC	0.626												
SLC46A3	283537	broad.mit.edu	37	13	29286951	29286951	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:29286950_29286950CA>C	uc001usj.3	-	2	1469	c.927_927TG>G	c.(925-927)ttgfs	p.L309fs	SLC46A3_uc001usg.3_Frame_Shift_Del_p.L234fs|SLC46A3_uc001usi.3_Frame_Shift_Del_p.L309fs|SLC46A3_uc001ush.3_Frame_Shift_Del_p.L309fs|SLC46A3_uc001usk.3_Frame_Shift_Del_p.L234fs	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	309					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GGAAACTAGTCAAAAAAGAGG	0.383												
PDS5B	23047	broad.mit.edu	37	13	33306278	33306278	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:33306277_33306277AC>A	uc010abf.3	+	19	2349	c.2163_2163AC>A	c.(2161-2163)ggafs	p.G721fs	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.	721					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.R724fs*16(1)		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)		CTAAAAAAGGACCCCCCCGTC	0.338												
KBTBD6	89890	broad.mit.edu	37	13	41705322	41705323	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:41705321_41705322G>GC	uc001uxu.1	-	0	1615_1616	c.1326_1327C>GC	c.(1324-1329)gggcgafs	p.G442fs	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	442							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470												
ZC3H13	23091	broad.mit.edu	37	13	46543661	46543661	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:46543660_46543660GT>G	uc010tfw.1	-	12	3025	c.3019_3019AC>C	c.(3019-3021)cgtfs	p.R1007fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Del_p.R1007fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.R1007fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1007	Lys-rich.						nucleic acid binding|zinc ion binding	p.R1007fs*2(2)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GATTTTTTACGTTTTTTTTCA	0.373												
SERPINE3	647174	broad.mit.edu	37	13	51936041	51936041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:51936040_51936040AT>A	uc001vfh.2	+	6	1242	c.1182_1182AT>A	c.(1180-1182)gtafs	p.V394fs	SERPINE3_uc010tgp.2_Intron|INTS6_uc001vfi.3_3'UTR|INTS6_uc001vfj.3_3'UTR|INTS6_uc001vfk.3_3'UTR|INTS6_uc001vfl.3_3'UTR	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	394					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						GTATTACAGTATTTTTTGACA	0.378												
MYCBP2	23077	broad.mit.edu	37	13	77641917	77641917	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:77641916_77641916TG>T	uc021rks.1	-	70	12522	c.12255_12255CA>A	c.(12253-12255)ccafs	p.P4085fs	MYCBP2_uc010aev.3_Frame_Shift_Del_p.P3451fs|MYCBP2_uc001vke.3_Frame_Shift_Del_p.P664fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGG	0.438												
ABCC4	10257	broad.mit.edu	37	13	95735432	95735432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:95735431_95735431CA>C	uc001vmd.4	-	20	2768	c.2649_2649TG>G	c.(2647-2649)ttgfs	p.L883fs	ABCC4_uc010afk.3_Frame_Shift_Del_p.L836fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	883	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTGACGTTTCCAAAAAATATC	0.438												
FARP1	10160	broad.mit.edu	37	13	99092476	99092476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:99092475_99092475GC>G	uc001vnh.3	+	23	2947	c.2708_2708GC>G	c.(2707-2709)agcfs	p.S903fs	FARP1_uc001vnj.3_Frame_Shift_Del_p.S872fs	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	872					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)			CTGGCCAGCAGCCCCCCTGAC	0.602												
COL4A1	1282	broad.mit.edu	37	13	110838821	110838821	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:110838820_110838820AG>A	uc001vqw.4	-	25	1931	c.1809_1809CT>T	c.(1807-1809)cctfs	p.P603fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	603	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGAGGCCCAGGGGGGCCGG	0.602												
TUBGCP3	10426	broad.mit.edu	37	13	113210541	113210541	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr13:113210540_113210540TA>T	uc001vse.1	-	6	736	c.549_splice	c.e6-1	p.G183_splice	TUBGCP3_uc010tjq.1_Splice_Site_p.G173_splice|TUBGCP3_uc001vsf.3_Splice_Site_p.G183_splice|TUBGCP3_uc001vsg.1_Splice_Site_p.G183_splice	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	183					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TTAGACTGTCTAAAAAAAGAA	0.393												
OR4L1	122742	broad.mit.edu	37	14	20528881	20528882	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:20528880_20528881C>CA	uc001vwn.1	+	0	677_678	c.677_678C>CA	c.(676-678)ccafs	p.P226fs		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTCAGTGTACCAAAAAAATCAT	0.436												
RPGRIP1	57096	broad.mit.edu	37	14	21762942	21762943	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:21762941_21762942C>CT	uc001wag.3	+	1	191_192	c.191_192C>CT	c.(190-192)tctfs	p.S64fs		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	64					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGGAGCTTTCTTGGAAGCAAC	0.381												
SLC7A8	23428	broad.mit.edu	37	14	23652029	23652029	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:23652028_23652028GC>G	uc001wiz.3	-	0	822	c.96_96GC>C	c.(94-96)ggcfs	p.G32fs	SLC7A8_uc010akj.3_Frame_Shift_Del_p.G32fs	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	32					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GGGCTACTCCGCCCCCTCCGG	0.607												
BAZ1A	11177	broad.mit.edu	37	14	35253125	35253125	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:35253124_35253124AT>A	uc001wsk.3	-	14	2409	c.1841_1841AT>T	c.(1840-1842)atgfs	p.M614fs	BAZ1A_uc001wsl.3_Frame_Shift_Del_p.M582fs	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	614					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GAGTATCTTCATTTTTTCTCC	0.343												
FBXO34	55030	broad.mit.edu	37	14	55818654	55818654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:55818653_55818653TG>T	uc021rtk.1	+	0	1545	c.1545_1545TG>T	c.(1543-1545)gctfs	p.A515fs	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Frame_Shift_Del_p.A515fs|FBXO34_uc010aoo.3_Frame_Shift_Del_p.A515fs	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	515										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AAGATGCTGCTGGGGGTGACA	0.483												
OTX2	5015	broad.mit.edu	37	14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:57271048_57271048CG>C	uc001xcq.3	-	3	405	c.131_131CG>G	c.(130-132)cggfs	p.R44fs	OTX2_uc001xcp.3_Frame_Shift_Del_p.R36fs|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Frame_Shift_Del_p.R36fs	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.R44fs*52(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCGCTGTTTCCGGGGGGTGGC	0.632												
KIAA0586	9786	broad.mit.edu	37	14	59014534	59014534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:59014533_59014533GC>G	uc010trr.2	+	33	5018	c.4774_4774GC>G	c.(4774-4776)gccfs	p.A1592fs	KIAA0586_uc001xdu.4_Frame_Shift_Del_p.M1495fs|KIAA0586_uc010trs.2_Frame_Shift_Del_p.M1425fs|KIAA0586_uc001xdt.4_Frame_Shift_Del_p.M1466fs|KIAA0586_uc001xdv.4_Frame_Shift_Del_p.M1434fs	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	0										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCACAGATGCCCCCTGCCA	0.522												
C14orf149	112849	broad.mit.edu	37	14	59946072	59946072	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333												
WARS	7453	broad.mit.edu	37	14	100820838	100820838	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:100820837_100820837GC>G	uc001yhh.1	-	4	870	c.489_489GC>C	c.(487-489)ggcfs	p.G163fs	WARS_uc001yhi.1_Frame_Shift_Del_p.G122fs|WARS_uc001yhg.2_Frame_Shift_Del_p.G163fs|WARS_uc001yhl.1_Frame_Shift_Del_p.G163fs|WARS_uc001yhk.1_Frame_Shift_Del_p.G122fs|WARS_uc010twz.1_Frame_Shift_Del_p.G163fs	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	163					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	p.R162W(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CAGAAGAGGGGCCCCGGCCCG	0.393												
PPP1R13B	23368	broad.mit.edu	37	14	104208418	104208418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr14:104208417_104208417TG>T	uc001yof.1	-	10	1815	c.1532_1532CA>A	c.(1531-1533)cagfs	p.Q511fs	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Frame_Shift_Del_p.Q378fs	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	511	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	p.Q511fs*39(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGAGCCTGGCTGGGGGGTGCT	0.647												
OR4M2	390538	broad.mit.edu	37	15	22369024	22369024	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:22369023_22369023AG>A	uc010tzu.2	+	0	546	c.448_448AG>A	c.(448-450)aggfs	p.R150fs	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTT	0.498												
SPINT1	6692	broad.mit.edu	37	15	41146715	41146715	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:41146714_41146714GA>G	uc001zna.3	+	6	1312	c.1108_1108GA>G	c.(1108-1110)gaafs	p.E370fs	SPINT1_uc001znb.3_Frame_Shift_Del_p.E354fs|SPINT1_uc001znc.3_Frame_Shift_Del_p.E354fs|SPINT1_uc010ucs.2_Frame_Shift_Del_p.E361fs	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	370	LDL-receptor class A.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGCTGCCTGTGAAAAATGTGA	0.627												
UBR1	197131	broad.mit.edu	37	15	43299296	43299296	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:43299295_43299295GT>G	uc001zqq.3	-	29	3463	c.3397_3397AC>C	c.(3397-3399)cccfs	p.P1133fs		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1133					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGTTCTATGGGTTTTCCCCTG	0.358												
TP53BP1	7158	broad.mit.edu	37	15	43748303	43748304	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:43748302_43748303GAA>G	uc001zrs.3	-	11	2636_2637	c.2488_2489TTC>C	c.(2488-2490)tctfs	p.S830fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.S830fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.S835fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.S835fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.S835fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	830					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGGCTGTGAAGAATCTTGCTCT	0.416								Other conserved DNA damage response genes				
DYX1C1	161582	broad.mit.edu	37	15	55759182	55759182	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:55759181_55759181AT>A	uc002adc.3	-	4	952	c.584_584AT>T	c.(583-585)atafs	p.I195fs	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Intron|DYX1C1_uc002adb.3_Frame_Shift_Del_p.I195fs|DYX1C1_uc002add.3_Frame_Shift_Del_p.I195fs	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	195					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		cttatattttattttttttct	0.289												
PRTG	283659	broad.mit.edu	37	15	55912219	55912219	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:55912218_55912218TG>T	uc002adg.3	-	19	3493	c.3445_3445CA>A	c.(3445-3447)aacfs	p.N1149fs		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	1149					multicellular organismal development	integral to membrane		p.P1148H(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCAGAGGTTGGGGGGTGTG	0.488												
TRIP4	9325	broad.mit.edu	37	15	64686305	64686305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:64686304_64686304CA>C	uc002anm.3	+	1	321	c.261_261CA>C	c.(259-261)ttcfs	p.F87fs		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	87					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						AGCAGTGCTTCAAAAAAGATG	0.318												
PIAS1	8554	broad.mit.edu	37	15	68479955	68479955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:68479954_68479954GT>G	uc002aqz.3	+	13	1830	c.1737_1737GT>G	c.(1735-1737)cggfs	p.R579fs		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	579	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ACTCGTCTCGGTTTTTCCCGT	0.488												
CYP11A1	1583	broad.mit.edu	37	15	74636221	74636221	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:74636220_74636220TG>T	uc002axt.2	-	3	894	c.739_739CA>A	c.(739-741)atgfs	p.M247fs	CYP11A1_uc002axs.2_Frame_Shift_Del_p.M89fs|CYP11A1_uc010bjm.1_Frame_Shift_Del_p.M89fs|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Frame_Shift_Del_p.M27fs	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	247					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AGGTTGAGCATGGGGACGCTG	0.557												
AGBL1	123624	broad.mit.edu	37	15	87531267	87531268	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:87531266_87531267C>CT	uc002blz.1	+	22	3212_3213	c.3132_3133C>CT	c.(3130-3135)cactttfs	p.H1044fs		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	1044					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ttgcttaccacttttttgccat	0.386												
IDH2	3418	broad.mit.edu	37	15	90631918	90631918	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:90631917_90631917TC>T	uc002box.3	-	3	522	c.436_436GA>A	c.(436-438)actfs	p.T146fs	IDH2_uc010uqb.2_Frame_Shift_Del_p.T94fs|IDH2_uc010uqc.2_Frame_Shift_Del_p.T16fs	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	146					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGGAAGACAGTCCCCCCCAGG	0.562			M		GBM							
CHSY1	22856	broad.mit.edu	37	15	101717648	101717648	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr15:101717647_101717647AT>A	uc021sxt.1	-	2	2831	c.2355_2355AT>T	c.(2353-2355)aatfs	p.N785fs	CHSY1_uc010usd.2_Frame_Shift_Del_p.N513fs	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	785					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AACTTGGATCATTTTTTTCCA	0.423												
AXIN1	8312	broad.mit.edu	37	16	338151	338153	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:338150_338152ATCT>A	uc002cgp.2	-	10	2948_2950	c.2559_2561AGAT>T	c.(2557-2562)aagatc>aaTc	p.853_854KI>N	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_In_Frame_Del_p.817_818KI>N	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	853	DIX.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.E852G(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TTTGCCGATGATCTTCTCCTCAA	0.601												
PTX4	390667	broad.mit.edu	37	16	1537332	1537332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1537331_1537331TG>T	uc010uvf.2	-	1	767	c.767_767CA>A	c.(766-768)cagfs	p.Q256fs		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	261						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCCTGGCACCTGGGGGGACCA	0.642												
TMEM204	79652	broad.mit.edu	37	16	1604942	1604942	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:1604941_1604941GC>G	uc002cmc.2	+	3	993	c.595_595GC>G	c.(595-597)gccfs	p.A199fs	IFT140_uc002clz.3_Intron|IFT140_uc002cmb.3_Intron|TMEM204_uc002cmd.2_Frame_Shift_Del_p.A199fs|TMEM204_uc010brr.1_Frame_Shift_Del_p.A199fs|BC114455_uc010brs.1_5'Flank	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	Homo sapiens transmembrane protein 204 (TMEM204), mRNA.	199					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				GGACTGCATGGCCCCCCGGGT	0.617												
C16orf59	80178	broad.mit.edu	37	16	2514081	2514081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:2514080_2514080GC>G	uc002cqh.3	+	8	1036	c.1005_1005GC>G	c.(1003-1005)aggfs	p.R335fs	C16orf59_uc002cqg.2_Frame_Shift_Del_p.R168fs|C16orf59_uc002cqi.3_Frame_Shift_Del_p.R168fs|C16orf59_uc010uwb.2_Intron	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	335										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTGTGGGGAGGCCCCCCGGAG	0.672												
CEMP1	752014	broad.mit.edu	37	16	2580785	2580785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:2580784_2580784AG>A	uc002cqr.3	-	0	626	c.291_291CT>T	c.(289-291)cctfs	p.P97fs	AMDHD2_uc010uwc.2_3'UTR|AMDHD2_uc010uwd.2_3'UTR	NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	Homo sapiens cementum protein 1 (CEMP1), mRNA.	97						cytoplasm				lung(1)|skin(1)	2						GCAGGGCACAAGGGGTTGATC	0.647												
PPL	5493	broad.mit.edu	37	16	4944500	4944500	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:4944499_4944499TG>T	uc002cyd.1	-	11	1453	c.1363_1363CA>A	c.(1363-1365)acafs	p.T455fs		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	455					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.T455fs*4(2)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCAGGGTCTGTGGGGGGGATC	0.612												
ERCC4	2072	broad.mit.edu	37	16	14042196	14042196	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:14042195_14042195GA>G	uc002dce.2	+	10	2751	c.2742_2742GA>G	c.(2740-2742)gggfs	p.G914fs	ERCC4_uc010uyz.1_Frame_Shift_Del_p.G464fs	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	914	Interaction with EME1 and ERCC1.				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			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AAGGAAAAGGGAAAAAGTGAA	0.408			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum			
MKL2	57496	broad.mit.edu	37	16	14346300	14346301	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:14346299_14346300T>TC	uc010uza.2	+	14	2798_2799	c.2643_2644T>TC	c.(2641-2646)gatcccfs	p.D881fs	MKL2_uc002dcg.3_Frame_Shift_Ins_p.D831fs|MKL2_uc002dcj.3_Frame_Shift_Ins_p.D126fs	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	870					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGACAAAAGATCCCCCCCGCTA	0.564												
KIAA0556	23247	broad.mit.edu	37	16	27751808	27751809	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:27751807_27751808CCT>C	uc002dow.3	+	14	2213_2214	c.2189_2190CCT>C	c.(2188-2190)cccfs	p.P730fs		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	730										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CATGAGGAGCCCTCTCTCATCC	0.554												
SH2B1	25970	broad.mit.edu	37	16	28878124	28878124	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:28878123_28878123AG>A	uc002dri.3	+	3	1147	c.708_708AG>A	c.(706-708)ggafs	p.G236fs	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Frame_Shift_Del_p.G236fs|SH2B1_uc002drk.3_Frame_Shift_Del_p.G236fs|SH2B1_uc002drl.3_Frame_Shift_Del_p.G236fs|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Frame_Shift_Del_p.G236fs|SH2B1_uc002drm.3_Frame_Shift_Del_p.G236fs	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	236	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TCAGTCGGGGAGGGGGCGCCT	0.642												
DOC2A	8448	broad.mit.edu	37	16	30018527	30018529	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30018526_30018528GCTT>G	uc002dvn.3	-	5	811_813	c.620_622AAGC>C	c.(619-624)aagcat>aCat	p.207_208KH>T	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_In_Frame_Del_p.207_208KH>T|DOC2A_uc002dvp.3_In_Frame_Del_p.207_208KH>T|DOC2A_uc002dvq.3_In_Frame_Del_p.207_208KH>T	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	207					nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ATGTTAAAATGCTTCTTCTGCGA	0.631												
YPEL3	83719	broad.mit.edu	37	16	30106447	30106447	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30106446_30106446GC>G	uc002dwl.3	-	1	971	c.253_253GC>C	c.(253-255)cgtfs	p.R85fs	BOLA2_uc010bzb.1_Intron|YPEL3_uc002dwm.3_Frame_Shift_Del_p.R47fs|YPEL3_uc002dwn.1_Frame_Shift_Del_p.R85fs|AK097453_uc002dwo.2_5'Flank	NM_031477	NP_001138996	P61236	YPEL3_HUMAN	Homo sapiens yippee-like 3 (Drosophila) (YPEL3), transcript variant 1, mRNA.	47						nucleolus				endometrium(1)|lung(2)	3						AGGTAGGCACGCCCCTGACTG	0.612												
SETD1A	9739	broad.mit.edu	37	16	30977317	30977318	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:30977316_30977317G>GC	uc002ead.1	+	7	2800_2801	c.2114_2115G>GC	c.(2113-2115)ggcfs	p.G705fs		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCTCAGCTGGCCCCCCCGGTG	0.644												
BCKDK	10295	broad.mit.edu	37	16	31123292	31123292	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:31123291_31123291GC>G	uc002eaw.4	+	10	1353	c.1037_1037GC>G	c.(1036-1038)agcfs	p.S346fs	BCKDK_uc002eav.4_Frame_Shift_Del_p.S346fs|BCKDK_uc010cai.3_Frame_Shift_Del_p.S316fs	NM_005881	NP_005872	O14874	BCKD_HUMAN	Homo sapiens branched chain ketoacid dehydrogenase kinase (BCKDK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	346	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	ATP binding|[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CCCCGGATCAGCCCCCTCTTT	0.622												
CBFB	865	broad.mit.edu	37	16	67070569	67070570	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:67070568_67070569GTC>G	uc002era.3	+	2	453_454	c.192_193GTC>G	c.(190-195)ctgtctfs	p.L64fs	CBFB_uc002erb.3_Frame_Shift_Del_p.L64fs|CBFB_uc010vja.2_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	Homo sapiens core-binding factor, beta subunit (CBFB), transcript variant 2, mRNA.	64					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GAACCAATCTGTCTCTCCAGTT	0.431			T	MYH11	AML							
PHLPP2	23035	broad.mit.edu	37	16	71748707	71748708	+	Splice_Site	INS	-	-	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:71748706_71748707T>TA	uc002fax.3	-	1	1	c.-5_splice	c.e1-1		PHLPP2_uc010cgf.3_5'UTR|PHLPP2_uc002fay.1_Splice_Site	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.							cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CATATTTCTCTAAAAAATATCA	0.386												
VAT1L	57687	broad.mit.edu	37	16	77859262	77859263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:77859261_77859262T>TC	uc002ffg.1	+	2	579_580	c.482_483T>TC	c.(481-483)ttcfs	p.F161fs		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	161							oxidoreductase activity|zinc ion binding	p.F161F(4)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCTGCTGCATTCCCCATGAACT	0.540												
ATP2C2	9914	broad.mit.edu	37	16	84492752	84492752	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr16:84492751_84492751AT>A	uc010chj.3	+	21	2262	c.2173_2173AT>A	c.(2173-2175)attfs	p.I725fs	ATP2C2_uc002fhx.3_Frame_Shift_Del_p.I725fs|ATP2C2_uc002fhy.3_Frame_Shift_Del_p.I742fs|ATP2C2_uc002fhz.3_Frame_Shift_Del_p.I574fs|ATP2C2_uc002fia.3_5'Flank	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	725					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGGCAAGGGTATTTTTTACAA	0.552												
ZZEF1	23140	broad.mit.edu	37	17	3926055	3926055	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:3926054_3926054CT>C	uc002fxe.3	-	43	7225	c.7161_7161AG>G	c.(7159-7161)aagfs	p.K2387fs	ZZEF1_uc002fxh.3_Frame_Shift_Del_p.K701fs|ZZEF1_uc002fxi.3_Frame_Shift_Del_p.K622fs	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2387							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTTTGCTGCACTTTTTCACCA	0.512												
TMEM102	284114	broad.mit.edu	37	17	7339229	7339229	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7339228_7339228GC>G	uc002ggx.1	+	1	311	c.38_38GC>G	c.(37-39)ggcfs	p.G13fs	SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Frame_Shift_Del_p.G13fs	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	Homo sapiens transmembrane protein 102 (TMEM102), mRNA.	13					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CCCTGGTggggcccgccgccc	0.667												
CHD3	1107	broad.mit.edu	37	17	7814810	7814812	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:7814809_7814811TGAA>T	uc002gjd.2	+	39	6088_6090	c.6086_6088TGAA>T	c.(6085-6090)gtgaag>gTag	p.K2031del	CHD3_uc002gje.2_In_Frame_Del_p.K1972del|CHD3_uc002gjf.2_In_Frame_Del_p.K1938del|CHD3_uc002gjh.2_In_Frame_Del_p.K549del|CHD3_uc002gjj.2_In_Frame_Del_p.K135del	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1972					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	p.K1972delK(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCAGTGCTTGTGAAGAAGGAGAA	0.542												
ARHGEF15	22899	broad.mit.edu	37	17	8222163	8222163	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:8222162_8222162GC>G	uc002glc.3	+	11	2122	c.1967_1967GC>G	c.(1966-1968)cgcfs	p.R656fs	ARHGEF15_uc002gld.3_Frame_Shift_Del_p.R656fs|ARHGEF15_uc010vuw.2_Frame_Shift_Del_p.R545fs	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	656					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TTTGCCTCGCGCCCCCGCTTC	0.642												
MFAP4	4239	broad.mit.edu	37	17	19289686	19289686	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:19289685_19289685AG>A	uc002gvs.3	-	2	351	c.250_250CT>T	c.(250-252)tcgfs	p.S84fs	MFAP4_uc002gvt.3_Frame_Shift_Del_p.S60fs	NM_001198695	NP_001185624	P55083	MFAP4_HUMAN	Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA.	60	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTGGGGCCCGAGGGGTAGATG	0.617												
ALDH3A1	218	broad.mit.edu	37	17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:19641648_19641648CG>C	uc002gwk.3	-	7	1949	c.1686_1686CG>G	c.(1684-1686)ccgfs	p.P562fs	ALDH3A1_uc010cqu.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010vzd.2_Frame_Shift_Del_p.P445fs|ALDH3A1_uc002gwj.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010cqv.3_Frame_Shift_Del_p.P444fs|ALDH3A1_uc002gwl.1_Frame_Shift_Del_p.P372fs			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	445					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TGGCCGGGCTCGGGGGGTATC	0.627												
CDK12	51755	broad.mit.edu	37	17	37627892	37627892	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:37627891_37627891GC>G	uc010cvv.3	+	1	2392	c.1806_1806GC>G	c.(1804-1806)cagfs	p.Q602fs	CDK12_uc010wef.1_Frame_Shift_Del_p.Q601fs|CDK12_uc002hrw.4_Frame_Shift_Del_p.Q602fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	602					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	p.Q602*(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAAATTCTCAGCCCCCTGTAC	0.488			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)		
WNK4	65266	broad.mit.edu	37	17	40939870	40939870	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:40939869_40939869TG>T	uc002ibj.3	+	7	1883	c.1815_1815TG>T	c.(1813-1815)cctfs	p.P605fs	WNK4_uc010wgx.2_Frame_Shift_Del_p.P269fs|WNK4_uc002ibk.1_Frame_Shift_Del_p.P377fs|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTCAGCCCCCTGGGGGGGTGC	0.632												
GPATCH8	23131	broad.mit.edu	37	17	42477238	42477238	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:42477237_42477237AG>A	uc002igw.2	-	7	2427	c.2208_2208CT>T	c.(2206-2208)cctfs	p.P736fs	GPATCH8_uc002igv.2_Frame_Shift_Del_p.P658fs|GPATCH8_uc010wiz.2_Frame_Shift_Del_p.P658fs	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	736						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCCACTCCCAGGGGGTTCTG	0.542												
CCDC103	388389	broad.mit.edu	37	17	42979740	42979740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:42979739_42979739GC>G	uc002iho.3	+	3	366	c.283_283GC>G	c.(283-285)gccfs	p.A95fs	EFTUD2_uc002ihn.2_5'Flank|EFTUD2_uc010wje.1_5'Flank|EFTUD2_uc010wjf.1_5'Flank|FAM187A_uc002ihp.1_5'Flank	NM_213607	NP_998772	Q8IW40	CC103_HUMAN	Homo sapiens coiled-coil domain containing 103 (CCDC103), mRNA.	95										endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				CCAGGAGAAAGCCCCCCTCCA	0.577												
PHB	5245	broad.mit.edu	37	17	47486482	47486483	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:47486481_47486482GCT>G	uc002iox.1	-	4	505_506	c.432_433AGC>C	c.(430-435)gagctgfs	p.E144fs		NM_002634	NP_002625	P35232	PHB_HUMAN	Homo sapiens prohibitin (PHB), mRNA.	144					DNA replication|cellular response to interleukin-6|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CTGGAGACCAGCTCTCTCTGGG	0.554												
TAC4	255061	broad.mit.edu	37	17	47918915	47918915	+	Splice_Site	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:47918914_47918914CT>C	uc002ipo.1	-	3	250	c.250_splice	c.e3+1	p.A84_splice	TAC4_uc002ipp.1_Splice_Site_p.A78_splice|TAC4_uc002ipq.1_Splice_Site_p.G78_splice|TAC4_uc002ipr.1_Intron|TAC4_uc002ips.1_Intron	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	Homo sapiens tachykinin 4 (hemokinin) (TAC4), transcript variant alpha, mRNA.	84					regulation of blood pressure	extracellular region				breast(1)|large_intestine(1)|lung(3)	5						CAATACTTACCTTTTTTTCTC	0.552												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	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												
C17orf64	124773	broad.mit.edu	37	17	58506875	58506875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:58506874_58506874GC>G	uc002iyq.3	+	4	670	c.581_581GC>G	c.(580-582)agcfs	p.S194fs		NM_181707	NP_859058	Q86WR6	CQ064_HUMAN	Homo sapiens chromosome 17 open reading frame 64 (C17orf64), mRNA.	194										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			GGTCAAGGGAGCCCCCTGCCT	0.582												
APPBP2	10513	broad.mit.edu	37	17	58541474	58541474	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:58541473_58541473TA>T	uc002iys.1	-	6	961	c.673_splice	c.e6-1	p.A225_splice	APPBP2_uc010ddl.1_Splice_Site_p.A154_splice	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	225					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTTGTATGCCTAAAAAAATTA	0.323												
AXIN2	8313	broad.mit.edu	37	17	63532585	63532585	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:63532584_63532584GC>G	uc002jfi.3	-	7	2284	c.1995_1995GC>C	c.(1993-1995)ggcfs	p.G665fs	AXIN2_uc002jfh.3_Frame_Shift_Del_p.G600fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	665					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACA	0.657									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome			
ABCA10	10349	broad.mit.edu	37	17	67212448	67212448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:67212447_67212447TA>T	uc010dfa.1	-	7	1462	c.583_583TA>A	c.(583-585)atgfs	p.M195fs	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Frame_Shift_Del_p.M87fs	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	195					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ACCAGAGCCATAAAAATGGAC	0.368												
DNAH17	8632	broad.mit.edu	37	17	76425217	76425217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:76425216_76425216TG>T	uc010dhp.2	-	75	12516	c.12391_12391CA>A	c.(12391-12393)aacfs	p.N4131fs	DNAH17_uc002jvq.3_Frame_Shift_Del_p.N416fs|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGTCCAGGTTGGGGGGGATC	0.582												
CARD14	79092	broad.mit.edu	37	17	78162303	78162305	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr17:78162302_78162304AAGG>A	uc002jxw.1	+	4	996_998	c.802_804AAGG>A	c.(802-804)aag>A	p.K268del	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_In_Frame_Del_p.K268del|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_In_Frame_Del_p.K31del|CARD14_uc010dhu.1_In_Frame_Del_p.K66del	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	268					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GAACCGCCTGAAGGAGGAGAATG	0.621												
LAMA1	284217	broad.mit.edu	37	18	7015794	7015794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:7015793_7015793AG>A	uc002knm.3	-	21	3148	c.3054_3054CT>T	c.(3052-3054)cctfs	p.P1018fs	LAMA1_uc010wzj.2_Frame_Shift_Del_p.P494fs	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1018	Laminin EGF-like 11.				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			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGTGTGTGAGGGGGGCAGA	0.552												
RNMT	8731	broad.mit.edu	37	18	13746253	13746253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:13746252_13746252CA>C	uc002ksk.1	+	7	1240	c.1173_1173CA>C	c.(1171-1173)tacfs	p.Y391fs	RNMT_uc002ksl.1_Frame_Shift_Del_p.Y391fs|RNMT_uc002ksm.1_Frame_Shift_Del_p.Y391fs|RNMT_uc010dlk.2_Frame_Shift_Del_p.Y391fs|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	391					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AACTAGTCTACAAAAAAACAT	0.303												
LAMA3	3909	broad.mit.edu	37	18	21338391	21338392	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:21338390_21338391T>TG	uc002kuq.3	+	6	1064_1065	c.978_979T>TG	c.(976-981)tgtgggfs	p.C326fs	LAMA3_uc010dlv.2_Frame_Shift_Ins_p.C326fs|LAMA3_uc002kur.3_Frame_Shift_Ins_p.C326fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	326	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCACACCTGTGGGGAGACGTG	0.569												
LAMA3	3909	broad.mit.edu	37	18	21495340	21495340	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:21495339_21495339CA>C	uc002kuq.3	+	58	7817	c.7731_7731CA>C	c.(7729-7731)ttcfs	p.F2577fs	LAMA3_uc002kur.3_Frame_Shift_Del_p.F2521fs|LAMA3_uc002kus.4_Frame_Shift_Del_p.F968fs|LAMA3_uc002kut.4_Frame_Shift_Del_p.F912fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2577	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTACAACTTCAAAAAAACAT	0.358												
CXXC1	30827	broad.mit.edu	37	18	47812174	47812174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:47812173_47812173GC>G	uc002leq.4	-	4	1318	c.585_585GC>C	c.(583-585)ggcfs	p.G195fs	CXXC1_uc002lep.4_Frame_Shift_Del_p.G52fs|CXXC1_uc002ler.4_Frame_Shift_Del_p.G195fs|CXXC1_uc010doy.3_Frame_Shift_Del_p.G195fs	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	195					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TCTTGTTGGGGCCCCCGAACT	0.622												
C18orf26	284254	broad.mit.edu	37	18	52258560	52258560	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:52258559_52258559GA>G	uc002lfq.1	+	0	170	c.124_124GA>G	c.(124-126)gaafs	p.E42fs		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	42						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TGAGCACTCTGAAAACCAGCC	0.358												
LMAN1	3998	broad.mit.edu	37	18	57021815	57021815	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:57021814_57021814TA>T	uc002lhz.3	-	4	510	c.478_splice	c.e4-1	p.K160_splice	LMAN1_uc010xek.1_Splice_Site_p.K160_splice	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	160	L-type lectin-like.				ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATTATTTTTCTAAAAAAAAGG	0.289												
SERPINB8	5271	broad.mit.edu	37	18	61652328	61652328	+	Splice_Site	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr18:61652327_61652327GA>G	uc002ljv.3	+	6	737	c.568_splice	c.e6-1	p.E190_splice	SERPINB8_uc002ljt.3_Splice_Site_p.E190_splice|SERPINB8_uc002lju.3_Splice_Site_p.E190_splice|SERPINB8_uc010xex.2_Splice_Site_p.E8_splice	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	190					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTTCCGTTAGGAAAAAAAGAC	0.373												
TMPRSS9	360200	broad.mit.edu	37	19	2422029	2422029	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:2422028_2422028TC>T	uc010xgx.2	+	12	2229	c.2229_2229TC>T	c.(2227-2229)tctfs	p.S743fs		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	743					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TTCCCATGTCTCCCCCCTCGA	0.657												
GIPC3	126326	broad.mit.edu	37	19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:3589526_3589526TG>T	uc002lyd.4	+	3	705	c.678_678TG>T	c.(676-678)tctfs	p.S226fs		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	226								p.S226F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTCGTTCTGGGGGGGCTG	0.612												
TMIGD2	126259	broad.mit.edu	37	19	4298064	4298064	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:4298063_4298063GC>G	uc002lzx.2	-	1	372	c.326_326GC>C	c.(325-327)gcgfs	p.A109fs	TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Frame_Shift_Del_p.A109fs	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	109	Ig-like.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACACGTACGCCCCGCTGTG	0.662												
SH2D3A	10045	broad.mit.edu	37	19	6754965	6754965	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:6754964_6754964AG>A	uc002mft.3	-	4	1053	c.859_859CT>T	c.(859-861)tccfs	p.S287fs	SH2D3A_uc010xjg.2_Frame_Shift_Del_p.S165fs	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	287					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AGCAGGCAGGAGGGGGCATCA	0.612												
GCDH	2639	broad.mit.edu	37	19	13008601	13008601	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:13008600_13008600TG>T	uc002mvq.3	+	10	1243	c.1166_1166TG>T	c.(1165-1167)ctgfs	p.L389fs	GCDH_uc002mvp.3_Frame_Shift_Del_p.L389fs|GCDH_uc010xmt.2_Frame_Shift_Del_p.L223fs|GCDH_uc010xmu.2_Frame_Shift_Del_p.L345fs	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	389					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	p.M388I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CGAGACATGCTGGGGGGGAAT	0.602												
MED26	9441	broad.mit.edu	37	19	16686954	16686954	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:16686953_16686953AC>A	uc002nen.1	-	2	1949	c.1688_1688GT>T	c.(1687-1689)gtgfs	p.V563fs	MED26_uc002nee.2_Intron	NM_004831	NP_004822	O95402	MED26_HUMAN	Homo sapiens mediator complex subunit 26 (MED26), mRNA.	563					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						ACACCCGTTCACCCCCGGCCA	0.622												
ARHGAP33	115703	broad.mit.edu	37	19	36278635	36278635	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:36278634_36278634GC>G	uc002obs.2	+	20	2828	c.2684_2684GC>G	c.(2683-2685)ggcfs	p.G895fs	ARHGAP33_uc002obt.2_Frame_Shift_Del_p.G892fs|ARHGAP33_uc002obv.1_Frame_Shift_Del_p.G644fs	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1036					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TACCCCCTGGGCCCCCCATCC	0.667												
ZNF570	148268	broad.mit.edu	37	19	37975958	37975959	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:37975957_37975958C>CT	uc010efl.1	+	5	1720_1721	c.1601_1602C>CT	c.(1600-1602)gctfs	p.A534fs	ZNF570_uc002ogk.1_Frame_Shift_Ins_p.A478fs|ZNF570_uc010xtr.1_Frame_Shift_Ins_p.A275fs	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGGAAAGGCTTTTAGTTACT	0.426												
ZNF793	390927	broad.mit.edu	37	19	38028415	38028416	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:38028414_38028415G>GT	uc010efm.3	+	7	1296_1297	c.854_855G>GT	c.(853-855)tgtfs	p.C285fs	ZNF793_uc010xts.2_Frame_Shift_Ins_p.C285fs	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C288fs*113(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCTTTGAATGTTTTTTTTGTG	0.465												
SUPT5H	6829	broad.mit.edu	37	19	39963120	39963120	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:39963119_39963119AC>A	uc002olo.4	+	20	2200	c.2021_2021AC>A	c.(2020-2022)cacfs	p.H674fs	SUPT5H_uc002olp.4_Frame_Shift_Del_p.H674fs|SUPT5H_uc002olq.4_Frame_Shift_Del_p.H670fs|SUPT5H_uc002oln.4_Frame_Shift_Del_p.H674fs|SUPT5H_uc002olr.4_Frame_Shift_Del_p.H674fs|SUPT5H_uc002ols.1_Frame_Shift_Del_p.H297fs|SUPT5H_uc010egp.1_Frame_Shift_Del_p.H40fs	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	674					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			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	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)			AGCCCCATGCACCCCAGTGCT	0.587												
PLD3	23646	broad.mit.edu	37	19	40883965	40883965	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:40883964_40883964AG>A	uc002onm.4	+	12	1755	c.1357_1357AG>A	c.(1357-1359)aggfs	p.R453fs	PLD3_uc002onj.4_Frame_Shift_Del_p.R453fs|PLD3_uc002onn.3_Frame_Shift_Del_p.R453fs	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	453					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCAGAATGGGAGGGGCGGCCT	0.622												
AXL	558	broad.mit.edu	37	19	41744385	41744385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:41744384_41744384GC>G	uc010ehj.3	+	7	1194	c.1004_1004GC>G	c.(1003-1005)ggcfs	p.G335fs	AXL_uc010ehi.1_Frame_Shift_Del_p.G335fs|AXL_uc010ehk.3_Frame_Shift_Del_p.G335fs	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	335	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTGCCCCTGGGCCCCCCTGAG	0.667												
CIC	23152	broad.mit.edu	37	19	42796883	42796883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:42796882_42796882GC>G	uc002otf.1	+	13	3380	c.3340_3340GC>G	c.(3340-3342)gccfs	p.A1114fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCATCCCAGGCCCCCCCAAG	0.682			"""Mis, F, S"""		oligodendroglioma							
FOXA3	3171	broad.mit.edu	37	19	46375367	46375367	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:46375366_46375366GC>G	uc002pdr.3	+	1	300	c.103_103GC>G	c.(103-105)gccfs	p.A35fs		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	35					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)		GCCCACCATGGCCCCCCTCAA	0.642												
PLEKHA4	57664	broad.mit.edu	37	19	49364681	49364682	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:49364680_49364681C>CG	uc002pkx.3	-	4	894_895	c.343_344G>CG	c.(343-345)cgafs	p.R115fs	PLEKHA4_uc010eml.3_Frame_Shift_Ins_p.R115fs	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	115	PH.					cytoplasm|membrane	1-phosphatidylinositol binding	p.R115R(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCGCCGCCCTCGGGGGGCTCCC	0.604												
ATF5	22809	broad.mit.edu	37	19	50435750	50435750	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:50435749_50435749AC>A	uc010enq.2	+	3	831	c.249_249AC>A	c.(247-249)ttafs	p.L83fs	IL4I1_uc021uxy.1_5'Flank|IL4I1_uc002pqu.2_5'Flank|IL4I1_uc010eno.2_5'Flank|IL4I1_uc002pqv.2_5'Flank|NUP62_uc002prb.3_5'Flank|NUP62_uc002pqx.3_5'Flank|NUP62_uc002pqy.3_5'Flank|NUP62_uc002pra.3_5'Flank|NUP62_uc002pqz.3_5'Flank|NUP62_uc002prc.3_5'Flank|ATF5_uc002prd.3_Frame_Shift_Del_p.L83fs|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	83					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGCCTCCCTTACCCCCCGGCA	0.567												
CACNG6	59285	broad.mit.edu	37	19	54515282	54515282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:54515281_54515281TC>T	uc002qct.3	+	3	1211	c.621_621TC>T	c.(619-621)cctfs	p.P207fs	CACNG6_uc002qcu.3_Frame_Shift_Del_p.P161fs|CACNG6_uc002qcv.3_Frame_Shift_Del_p.P136fs	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	207						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GCCCGGAGCCTCCCCCGGCCC	0.697												
ZIM3	114026	broad.mit.edu	37	19	57646387	57646387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr19:57646386_57646386GT>G	uc002qnz.1	-	4	1705	c.1319_1319AC>C	c.(1318-1320)accfs	p.T440fs		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCAGTATGGGTTTTTTTATG	0.408												
DEFB129	140881	broad.mit.edu	37	20	210188	210188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:210187_210187CT>C	uc002wda.3	+	1	358	c.327_327CT>C	c.(325-327)agcfs	p.S109fs		NM_080831	NP_543021	Q9H1M3	DB129_HUMAN	Homo sapiens defensin, beta 129 (DEFB129), mRNA.	109					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AAAGCACTAGCTTTTTTGCTA	0.408												
SPTLC3	55304	broad.mit.edu	37	20	13140675	13140676	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:13140674_13140675G>GA	uc002wod.1	+	10	1729_1730	c.1440_1441G>GA	c.(1438-1443)gagaaafs	p.E480fs		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	480					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.E480D(2)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATATGCTAGAGAAAAAAATTGG	0.431												
KIF16B	55614	broad.mit.edu	37	20	16360401	16360401	+	Frame_Shift_Del	DEL	T	T	-	rs76323917		TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:16360400_16360400CT>C	uc002wpg.2	-	18	2406	c.2247_2247AG>G	c.(2245-2247)aagfs	p.K749fs	KIF16B_uc002wpe.1_Frame_Shift_Del_p.K131fs|KIF16B_uc002wpf.1_Frame_Shift_Del_p.K131fs|KIF16B_uc010gch.2_Frame_Shift_Del_p.K749fs|KIF16B_uc010gci.2_Frame_Shift_Del_p.K749fs|KIF16B_uc010gcj.2_Frame_Shift_Del_p.K760fs	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	749	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.K749fs*3(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCTCTAGTCTCTTTTTTTCCA	0.502												
NCOA6	23054	broad.mit.edu	37	20	33331070	33331070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:33331069_33331069TG>T	uc002xav.3	-	11	5562	c.2991_2991CA>A	c.(2989-2991)ccafs	p.P997fs	NCOA6_uc002xaw.3_Frame_Shift_Del_p.P997fs|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Frame_Shift_Del_p.P997fs|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	997	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GTGGCTGTGGTGGGGGTGCCA	0.582												
MYH7B	57644	broad.mit.edu	37	20	33582173	33582175	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:33582172_33582174GAGA>G	uc002xbi.2	+	26	3111_3113	c.2794_2796GAGA>G	c.(2794-2796)gag>G	p.E932del		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	890						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CATCACCCAGGAGAAGAATGACC	0.690												
GDF5	8200	broad.mit.edu	37	20	34025211	34025212	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:34025210_34025211T>TG	uc010gfc.1	-	0	739_740	c.498_499A>CA	c.(496-501)cccatcfs	p.P166fs	GDF5_uc002xck.1_Frame_Shift_Ins_p.P166fs	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	166					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGGGGTGTGATGGGGGGTGGGC	0.634												
SGK2	10110	broad.mit.edu	37	20	42195105	42195105	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:42195104_42195104TC>T	uc002xkv.3	+	0	368	c.149_149TC>T	c.(148-150)gtcfs	p.V50fs	SGK2_uc002xkr.3_Intron|SGK2_uc010ggm.3_Intron|SGK2_uc002xkt.3_Intron|SGK2_uc002xku.3_Intron|SGK2_uc002xkq.1_Intron	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	50					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTCCTCCCTGTCCCCCCAGAG	0.612												
PIGT	51604	broad.mit.edu	37	20	44050026	44050026	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:44050025_44050025GC>G	uc002xoh.2	+	8	1126	c.1036_1036GC>G	c.(1036-1038)gccfs	p.A346fs	PIGT_uc010ghd.2_Frame_Shift_Del_p.A253fs|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Frame_Shift_Del_p.A309fs|PIGT_uc010ghf.2_Frame_Shift_Del_p.A299fs|PIGT_uc010zwz.2_Frame_Shift_Del_p.A84fs|PIGT_uc010zww.2_Frame_Shift_Del_p.A290fs|PIGT_uc010zwy.2_Frame_Shift_Del_p.A244fs|PIGT_uc002xoj.2_Intron|PIGT_uc010zwu.2_Frame_Shift_Del_p.A84fs|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Frame_Shift_Del_p.A84fs|PIGT_uc010zwx.2_Frame_Shift_Del_p.A181fs|PIGT_uc010zxa.2_Frame_Shift_Del_p.A184fs|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Frame_Shift_Del_p.A22fs	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	346					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding	p.A346A(1)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGT	0.572												
CTSA	5476	broad.mit.edu	37	20	44523668	44523668	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:44523667_44523667AC>A	uc002xqh.3	+	10	1411	c.1037_1037AC>A	c.(1036-1038)gacfs	p.D346fs	CTSA_uc002xqj.4_Frame_Shift_Del_p.D328fs|CTSA_uc010zxi.2_Frame_Shift_Del_p.D329fs|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	328					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GTGCGCATGGACCCCCCCTGC	0.637												
SLC12A5	57468	broad.mit.edu	37	20	44673727	44673727	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:44673726_44673726GC>G	uc010zxl.1	+	11	1661	c.1585_1585GC>G	c.(1585-1587)gccfs	p.A529fs	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Frame_Shift_Del_p.A506fs	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	529					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTCACGGGGGCCCCACGCCT	0.632												
ZFP64	55734	broad.mit.edu	37	20	50701761	50701761	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:50701760_50701760AT>A	uc002xwk.3	-	8	1623	c.1274_1274AT>T	c.(1273-1275)atcfs	p.I425fs	ZFP64_uc002xwj.3_Frame_Shift_Del_p.I206fs	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	382			F -> Y (in dbSNP:rs16996517).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GTCCGAGCTGATTTTGAACTT	0.532												
CBLN4	140689	broad.mit.edu	37	20	54579052	54579052	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:54579051_54579051CG>C	uc002xxa.3	-	0	962	c.177_177CG>G	c.(175-177)ccgfs	p.P59fs		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	59						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			ATATCCCCAGCGGGGAGGAAG	0.652												
TH1L	51497	broad.mit.edu	37	20	57564987	57564987	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:57564986_57564986AG>A	uc002yag.3	+	6	785	c.758_758AG>A	c.(757-759)cagfs	p.Q253fs	TH1L_uc002yaf.1_Non-coding_Transcript	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA.	253					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23	all_lung(29;0.00711)		Colorectal(105;0.109)			CAGGAGGAGCAGGGGGGCTCC	0.632												
COL20A1	57642	broad.mit.edu	37	20	61939423	61939423	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr20:61939422_61939422AG>A	uc011aau.2	+	6	855	c.755_755AG>A	c.(754-756)aagfs	p.K252fs	COL20A1_uc011aav.2_Frame_Shift_Del_p.K73fs	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	252	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity	p.K252N(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTCCGCTACAAGGGGGGGAAC	0.647												
UBASH3A	53347	broad.mit.edu	37	21	43864692	43864692	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:43864691_43864691AC>A	uc002zbe.3	+	13	1870	c.1786_1786AC>A	c.(1786-1788)acgfs	p.T596fs	UBASH3A_uc002zbf.3_Frame_Shift_Del_p.T558fs|UBASH3A_uc010gpe.3_Intron|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	596	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGACTCCTGCACGCGGCCACT	0.577												
TRAPPC10	7109	broad.mit.edu	37	21	45504083	45504083	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:45504082_45504082AC>A	uc002zea.3	+	14	2487	c.2318_2318AC>A	c.(2317-2319)tacfs	p.Y773fs	TRAPPC10_uc010gpo.3_Frame_Shift_Del_p.Y484fs|TRAPPC10_uc011afa.2_Frame_Shift_Del_p.Y192fs	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	773					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCTCACATCTACCCCATTGTG	0.607												
KRTAP10-5	386680	broad.mit.edu	37	21	45999955	45999955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:45999954_45999954AG>A	uc002zfl.1	-	0	528	c.502_502CT>T	c.(502-504)tgcfs	p.C168fs	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	168	22 X 5 AA repeats of C-C-X(3).					keratin filament		p.P167H(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GACTGCTGGCAGGGGGAGGAG	0.597												
COL18A1	80781	broad.mit.edu	37	21	46888199	46888199	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:46888198_46888198AC>A	uc002zhi.3	+	1	710	c.689_689AC>A	c.(688-690)gacfs	p.D230fs	COL18A1_uc002zhg.3_Frame_Shift_Del_p.D50fs	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	465					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCTTGGGGACCCCCCGCCC	0.662												
PCNT	5116	broad.mit.edu	37	21	47754333	47754334	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr21:47754332_47754333AAG>A	uc002zji.4	+	2	396_397	c.289_290AAG>A	c.(289-291)aagfs	p.K97fs	PCNT_uc002zjj.3_5'UTR|PCNT_uc010gqk.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	97					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding	p.K97N(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGATGGAGAGAAGAGAGAGGAC	0.535												
MTMR3	8897	broad.mit.edu	37	22	30415991	30415992	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:30415990_30415991T>TC	uc003agv.4	+	16	2670_2671	c.2342_2343T>TC	c.(2341-2343)gtcfs	p.V781fs	MTMR3_uc003agu.4_Frame_Shift_Ins_p.V781fs|MTMR3_uc003agw.4_Frame_Shift_Ins_p.V781fs	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	781					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTCTCCAGGTCCCCCCCAGGG	0.554												
RANGAP1	5905	broad.mit.edu	37	22	41650427	41650429	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:41650426_41650428TTCC>T	uc003azs.3	-	9	2614_2616	c.1144_1146GGAA>A	c.(1144-1146)gaa>A	p.E382del	RANGAP1_uc003azt.3_In_Frame_Del_p.E382del|RANGAP1_uc003azu.3_In_Frame_Del_p.E382del|RANGAP1_uc011aoz.2_In_Frame_Del_p.E327del	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	382	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cttcctcatcttcctcctcctct	0.562												
TBC1D22A	25771	broad.mit.edu	37	22	47188444	47188444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:47188443_47188443AC>A	uc003bib.3	+	1	255	c.89_89AC>A	c.(88-90)cacfs	p.H30fs	TBC1D22A_uc010haf.3_5'UTR|TBC1D22A_uc003bie.3_Intron|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_5'UTR	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	30						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTT	0.567												
ZBED4	9889	broad.mit.edu	37	22	50279276	50279276	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:50279275_50279275CA>C	uc003bix.2	+	1	2435	c.1965_1965CA>C	c.(1963-1965)gccfs	p.A655fs	ZBED4_uc021wrx.1_Frame_Shift_Del_p.A655fs	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	655						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		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)		ACCCAGTTGCCAAAAAAATCA	0.468												
NCAPH2	29781	broad.mit.edu	37	22	50961502	50961502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chr22:50961501_50961501TC>T	uc003blx.4	+	18	1708	c.1586_1586TC>T	c.(1585-1587)ttcfs	p.F529fs	NCAPH2_uc003blv.3_Frame_Shift_Del_p.F528fs|NCAPH2_uc003blr.4_Frame_Shift_Del_p.F528fs	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	528					chromosome condensation	chromosome|nucleus		p.P529L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GTCTCACGGTTCCCCCAGCTC	0.637												
XK	7504	broad.mit.edu	37	X	37587585	37587586	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:37587584_37587585C>CA	uc004ddq.3	+	2	1286_1287	c.1204_1205C>CA	c.(1204-1206)caafs	p.Q402fs		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	402					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CTGCAGGCAGCAAAAACCCTGT	0.470												
FAM46D	169966	broad.mit.edu	37	X	79699146	79699146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:79699145_79699145AC>A	uc022bzm.1	+	0	1107	c.1107_1107AC>A	c.(1105-1107)ccafs	p.P369fs	FAM46D_uc004edl.1_Frame_Shift_Del_p.P369fs|FAM46D_uc004edm.2_Frame_Shift_Del_p.P369fs	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	369								p.P369Q(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TACCTGAGCCACCCCCCGTTA	0.408												
TBC1D8B	54885	broad.mit.edu	37	X	106069300	106069300	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:106069299_106069299CT>C	uc004emo.3	+	5	1032	c.867_867CT>C	c.(865-867)gccfs	p.A289fs	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Frame_Shift_Del_p.A289fs|TBC1D8B_uc004emn.3_Frame_Shift_Del_p.A289fs	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	289	GRAM 2.					intracellular	Rab GTPase activator activity|calcium ion binding	p.A289A(3)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATTTAATGCCTTTTTTAGGC	0.373												
BCORL1	63035	broad.mit.edu	37	X	129149744	129149745	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5723-01A-11D-1600-08	TCGA-CG-5723-11A-02D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffb4f42b-58e9-40c3-8963-11804f041375	e4834ec5-3085-4675-8d63-23f546b30799	g.chrX:129149743_129149744A>AC	uc022cdu.1	+	2	3039_3040	c.2995_2996A>AC	c.(2995-2997)accfs	p.T999fs	BCORL1_uc010nrd.1_Frame_Shift_Ins_p.T901fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	999					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGTCCTGGCCACCCCCCAGAAC	0.609