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	894619	894619	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:894619A>G	uc001abz.3	-	1	61	c.2T>C	c.(1-3)ATG>ACG	p.M1T	NOC2L_uc001aby.3_5'Flank|NOC2L_uc009vjq.2_Missense_Mutation_p.M1T|NOC2L_uc009vjr.1_Missense_Mutation_p.M1T|KLHL17_uc001aca.1_5'Flank|KLHL17_uc001acb.1_5'Flank|KLHL17_uc010nya.1_5'Flank|KLHL17_uc001acc.1_5'Flank	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	1						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)		CGCAGCTGCCATGACACCAAC	0.552												
GLTPD1	80772	broad.mit.edu	37	1	1262395	1262395	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:1262395C>T	uc001aeo.2	+	2	520	c.105C>T	c.(103-105)AGC>AGT	p.S35S	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	35						cytoplasm	glycolipid binding|glycolipid transporter activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACATTGCCAGCTGGAAGGGCC	0.592												
MXRA8	54587	broad.mit.edu	37	1	1289254	1289254	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:1289254G>T	uc001aew.2	-	9	1308	c.1277C>A	c.(1276-1278)CCT>CAT	p.P426H	MXRA8_uc001aex.3_Missense_Mutation_p.P432H|MXRA8_uc001aey.3_Missense_Mutation_p.P426H|MXRA8_uc010nyl.1_Missense_Mutation_p.P426H|MXRA8_uc001aez.2_Missense_Mutation_p.P325H|MXRA8_uc001afa.2_Missense_Mutation_p.P417H	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	426	Cytoplasmic (Potential).					integral to membrane					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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTACTTGGCAGGCAGGGGGCT	0.617												
ATAD3B	83858	broad.mit.edu	37	1	1416256	1416256	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:1416256A>G	uc001afv.2	+	5	555	c.454A>G	c.(454-456)AAT>GAT	p.N152D	ATAD3B_uc001afw.2_Missense_Mutation_p.N106D|ATAD3B_uc001afx.2_Missense_Mutation_p.N106D	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	152	Potential.						ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCAACTTCTCAATGAGGAGAA	0.552												
GNB1	2782	broad.mit.edu	37	1	1736014	1736014	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:1736014C>T	uc001aif.2	-	7	606	c.274G>A	c.(274-276)GCC>ACC	p.A92T	GNB1_uc009vky.2_5'UTR	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	92					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		AGAGGGATGGCGTGGACCTAA	0.473												
MORN1	79906	broad.mit.edu	37	1	2268277	2268277	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:2268277G>A	uc001ajb.1	-	11	1070	c.1049C>T	c.(1048-1050)GCG>GTG	p.A350V	MORN1_uc009vld.2_Missense_Mutation_p.A326V	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	MORN repeat containing 1	350										ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		ACAATGGGGCGCATGTCCCCT	0.657												
MEGF6	1953	broad.mit.edu	37	1	3417789	3417789	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:3417789C>T	uc001akl.2	-	19	2625	c.2398G>A	c.(2398-2400)GGA>AGA	p.G800R	MEGF6_uc001akk.2_Missense_Mutation_p.G695R	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	800	EGF-like 13.					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)		AGGCAGGCTCCGGTCTCAGGG	0.697												
C1orf174	339448	broad.mit.edu	37	1	3807424	3807424	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:3807424G>A	uc001alf.2	-	3	434	c.327C>T	c.(325-327)GGC>GGT	p.G109G	C1orf174_uc009vls.2_RNA	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	hypothetical protein LOC339448	109											0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCACAGAAACGCCAGCCTCGC	0.542												
NPHP4	261734	broad.mit.edu	37	1	5965733	5965733	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:5965733C>T	uc001alq.1	-	14	1988	c.1722G>A	c.(1720-1722)ACG>ACA	p.T574T	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_5'Flank	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	574					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CATGCAAAGGCGTGAACGGCA	0.597												
CHD5	26038	broad.mit.edu	37	1	6171885	6171885	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:6171885G>A	uc001amb.1	-	36	5299	c.5199C>T	c.(5197-5199)TAC>TAT	p.Y1733Y	CHD5_uc001alz.1_Silent_p.Y590Y|CHD5_uc001ama.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1733					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.Y1733Y(1)		central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCCAGATGTCGTAGATTTTCC	0.627												
PER3	8863	broad.mit.edu	37	1	7887694	7887694	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:7887694C>T	uc001aoo.2	+	17	2856	c.2681C>T	c.(2680-2682)CCC>CTC	p.P894L	PER3_uc009vmg.1_Missense_Mutation_p.P902L|PER3_uc009vmh.1_Missense_Mutation_p.P895L|PER3_uc001aop.2_Missense_Mutation_p.P902L|PER3_uc010nzw.1_Missense_Mutation_p.P583L	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	894	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGACCCACCCCCTTCAGTC	0.547												
SLC2A7	155184	broad.mit.edu	37	1	9063463	9063463	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:9063463G>A	uc009vmo.1	-	12	1435	c.1435C>T	c.(1435-1437)CGC>TGC	p.R479C		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	479	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCAAAAATGCGGTTTATCTCC	0.478												
CASZ1	54897	broad.mit.edu	37	1	10699245	10699245	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:10699245C>G	uc001aro.2	-	21	5354	c.5034G>C	c.(5032-5034)GAG>GAC	p.E1678D		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1678	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		gctcctcctcctcgtcctcct	0.08												
CASZ1	54897	broad.mit.edu	37	1	10719929	10719929	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:10719929C>T	uc001aro.2	-	6	1490	c.1170G>A	c.(1168-1170)CCG>CCA	p.P390P	CASZ1_uc001arp.1_Silent_p.P390P|CASZ1_uc009vmx.2_Silent_p.P414P|CASZ1_uc001arq.1_Silent_p.P249P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	390	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGGGGTGGGCGGAACCTTGG	0.721												
MIIP	60672	broad.mit.edu	37	1	12091845	12091845	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:12091845G>A	uc001ato.1	+	10	1327	c.1147G>A	c.(1147-1149)GTC>ATC	p.V383I		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	invasion inhibitory protein 45	383										ovary(1)	1						TCGGCCCCACGTCCCACGGCA	0.672												
PRDM2	7799	broad.mit.edu	37	1	14107207	14107207	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:14107207C>T	uc001avi.2	+	8	3773	c.2917C>T	c.(2917-2919)CCT>TCT	p.P973S	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.P973S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.P772S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	973	Pro-rich.|SH3-binding (Potential).					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)		TCCCTCTTCCCCTCCACCCTG	0.602												
SPEN	23013	broad.mit.edu	37	1	16257385	16257385	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:16257385G>T	uc001axk.1	+	11	4854	c.4650G>T	c.(4648-4650)GAG>GAT	p.E1550D	SPEN_uc010obp.1_Missense_Mutation_p.E1509D	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1550					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAGAAAAGAGGAAGATTCTG	0.423												
CROCC	9696	broad.mit.edu	37	1	17265406	17265406	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:17265406C>T	uc001azt.2	+	12	1446	c.1377C>T	c.(1375-1377)GCC>GCT	p.A459A	CROCC_uc009voy.1_Silent_p.A162A|CROCC_uc009voz.1_Silent_p.A222A|CROCC_uc001azu.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	459					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACCCTCAGGCCGTCTTGTCAG	0.682												
PADI2	11240	broad.mit.edu	37	1	17418909	17418909	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:17418909C>T	uc001baf.2	-	6	731	c.649G>A	c.(649-651)GTG>ATG	p.V217M	PADI2_uc010ocm.1_Intron|PADI2_uc001bag.1_Missense_Mutation_p.V217M	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	217					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCACTCTCCACGTAGAACACG	0.582												
PAX7	5081	broad.mit.edu	37	1	19062357	19062357	+	Missense_Mutation	SNP	G	G	A	rs140323790	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:19062357G>A	uc001bay.2	+	8	1985	c.1387G>A	c.(1387-1389)GGC>AGC	p.G463S	PAX7_uc001baz.2_Missense_Mutation_p.G461S|PAX7_uc010oct.1_Missense_Mutation_p.G463S	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	463					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTATCAGTACGGCCAGTACGG	0.642			T	FOXO1A	alveolar rhabdomyosarcoma							
HTR6	3362	broad.mit.edu	37	1	19992504	19992504	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:19992504C>T	uc001bcl.2	+	1	725	c.258C>T	c.(256-258)AAC>AAT	p.N86N		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	86	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CCATGCTGAACGCGCTGTACG	0.662												
HTR6	3362	broad.mit.edu	37	1	20005625	20005625	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:20005625G>A	uc001bcl.2	+	3	1554	c.1087G>A	c.(1087-1089)GGC>AGC	p.G363S		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	363	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CCCCCGGCCCGGCCTTAGCCT	0.731												
HSPG2	3339	broad.mit.edu	37	1	22211332	22211332	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:22211332A>G	uc001bfj.2	-	12	1475	c.1435T>C	c.(1435-1437)TGT>CGT	p.C479R	HSPG2_uc009vqd.2_Missense_Mutation_p.C479R	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	479	Ig-like C2-type 1.				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)	ATGGCCTCACAGGTGTAGGCA	0.617												
HSPG2	3339	broad.mit.edu	37	1	22222727	22222727	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:22222727C>T	uc001bfj.2	-	2	180	c.140G>A	c.(139-141)CGC>CAC	p.R47H	HSPG2_uc009vqd.2_Missense_Mutation_p.R47H|HSPG2_uc009vqe.1_Missense_Mutation_p.R2H	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	47					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)	ATGTGTCCAGCGCATTTGGCT	0.562												
LUZP1	7798	broad.mit.edu	37	1	23418326	23418326	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:23418326G>A	uc001bgk.2	-	4	2813	c.2429C>T	c.(2428-2430)CCG>CTG	p.P810L	LUZP1_uc010odv.1_Missense_Mutation_p.P810L|LUZP1_uc001bgl.2_Missense_Mutation_p.P810L|LUZP1_uc001bgm.1_Missense_Mutation_p.P810L	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	810						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GGCCTCACCCGGAGCAGCTCT	0.532												
HNRNPR	10236	broad.mit.edu	37	1	23637504	23637504	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:23637504G>A	uc001bgr.3	-	11	1504	c.1345C>T	c.(1345-1347)CGG>TGG	p.R449W	HNRNPR_uc001bgo.2_Missense_Mutation_p.R59W|HNRNPR_uc001bgp.3_Missense_Mutation_p.R452W|HNRNPR_uc009vqk.2_Missense_Mutation_p.R351W|HNRNPR_uc001bgs.3_Missense_Mutation_p.R348W|HNRNPR_uc010odw.1_Missense_Mutation_p.R411W|HNRNPR_uc010odx.1_Missense_Mutation_p.R289W|HNRNPR_uc009vql.2_Missense_Mutation_p.R310W	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	449	RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCACGACCCCGACCTCTAATT	0.443												
GRHL3	57822	broad.mit.edu	37	1	24666189	24666189	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:24666189G>T	uc001biy.2	+	8	1045	c.999G>T	c.(997-999)GAG>GAT	p.E333D	GRHL3_uc001bix.2_Missense_Mutation_p.E328D|GRHL3_uc001biz.2_Missense_Mutation_p.E235D	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	328					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACACTGTGGAGCACATTGAGG	0.537												
SRRM1	10250	broad.mit.edu	37	1	24995640	24995640	+	Missense_Mutation	SNP	G	G	A	rs145630406		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:24995640G>A	uc001bjm.2	+	14	1990	c.1766G>A	c.(1765-1767)CGC>CAC	p.R589H	SRRM1_uc010oel.1_Missense_Mutation_p.R601H|SRRM1_uc009vrh.1_Missense_Mutation_p.R562H|SRRM1_uc009vri.1_Missense_Mutation_p.R518H	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	589	Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCACGTCGGCGCTCACCTTCT	0.463												
MAN1C1	57134	broad.mit.edu	37	1	25944451	25944451	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:25944451G>C	uc001bkm.2	+	1	493	c.163G>C	c.(163-165)GCC>CCC	p.A55P	MAN1C1_uc009vry.1_5'UTR	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	55	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCTCTTCCTGGCCCCCCGGAC	0.632												
PAFAH2	5051	broad.mit.edu	37	1	26300985	26300985	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:26300985C>A	uc001bld.3	-	9	1095	c.915G>T	c.(913-915)AGG>AGT	p.R305S	PAFAH2_uc001ble.3_Missense_Mutation_p.R305S	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2	305					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			ovary(2)	2		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		CGGTTATGATCCTAGACTGTT	0.463												
RCC1	1104	broad.mit.edu	37	1	28862386	28862386	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:28862386G>A	uc001bqg.1	+	7	750	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.R222Q|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.R222Q|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.R222Q|RCC1_uc001bqe.1_Missense_Mutation_p.R239Q|RCC1_uc001bqf.1_Missense_Mutation_p.R253Q	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	222	RCC1 4.				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCAGAACGACTCCTGGTC	0.473												
PTPRU	10076	broad.mit.edu	37	1	29581830	29581830	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:29581830C>T	uc001bru.2	+	2	227	c.117C>T	c.(115-117)TGC>TGT	p.C39C	PTPRU_uc001brv.2_Silent_p.C39C|PTPRU_uc001brw.2_Silent_p.C39C|PTPRU_uc009vtq.2_Silent_p.C39C|PTPRU_uc009vtr.2_Silent_p.C39C	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	39	Extracellular (Potential).|MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CAGTGCCCTGCGAGTACAGCC	0.652												
COL16A1	1307	broad.mit.edu	37	1	32163710	32163710	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:32163710C>T	uc001btk.1	-	6	819	c.454G>A	c.(454-456)GAC>AAC	p.D152N	COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.3_Missense_Mutation_p.D152N	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	152	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GACACAAAGTCGCCATCCTGG	0.572												
ZC3H12A	80149	broad.mit.edu	37	1	37949169	37949169	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:37949169C>T	uc001cbb.3	+	6	1907	c.1757C>T	c.(1756-1758)GCT>GTT	p.A586V	ZC3H12A_uc001cbc.1_Missense_Mutation_p.A381V	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	586					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGCAGCTGGCTGCCGAGATC	0.652												
SNIP1	79753	broad.mit.edu	37	1	38003355	38003355	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:38003355G>A	uc001cbi.2	-	4	1258	c.1185C>T	c.(1183-1185)GAC>GAT	p.D395D	SNIP1_uc010oid.1_RNA	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	395					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				TTTGCTAGCTGTCAGACACTT	0.468												
EPHA10	284656	broad.mit.edu	37	1	38227637	38227637	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:38227637C>T	uc009vvi.2	-	3	376	c.290G>A	c.(289-291)CGC>CAC	p.R97H	EPHA10_uc001cbw.3_Missense_Mutation_p.R97H	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	97	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGCTGCCCGCGGCCACGGCT	0.607												
PPT1	5538	broad.mit.edu	37	1	40546146	40546146	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:40546146C>T	uc001cfb.2	-	6	782	c.550G>A	c.(550-552)GAA>AAA	p.E184K	PPT1_uc010ojf.1_Missense_Mutation_p.E134K|PPT1_uc010ojg.1_Missense_Mutation_p.E81K|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	184					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCCAGTATTCGGCTTGCACG	0.517												
COL9A2	1298	broad.mit.edu	37	1	40770189	40770189	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:40770189C>T	uc001cfh.1	-	23	1244	c.1174G>A	c.(1174-1176)GAG>AAG	p.E392K	COL9A2_uc001cfi.1_Missense_Mutation_p.E211K	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	392	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGACCCCTCTCGCCTTGGTCA	0.622												
CLDN19	149461	broad.mit.edu	37	1	43205546	43205546	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:43205546C>T	uc001cht.1	-	1	380	c.189G>A	c.(187-189)CAG>CAA	p.Q63Q	CLDN19_uc001chu.2_Silent_p.Q63Q|CLDN19_uc010ojv.1_Silent_p.Q63Q	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	63	Extracellular (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)				AGAGCTTGCACTGCACTTGCC	0.642												
LEPRE1	64175	broad.mit.edu	37	1	43223475	43223475	+	Silent	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:43223475G>C	uc001chv.2	-	5	1172	c.1059C>G	c.(1057-1059)ACC>ACG	p.T353T	LEPRE1_uc001chw.2_Silent_p.T353T|LEPRE1_uc001chx.3_Silent_p.T353T	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	353					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGATGGATCTGGTGTGTTCTT	0.517											OREG0013423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TIE1	7075	broad.mit.edu	37	1	43778274	43778274	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:43778274T>C	uc001ciu.2	+	12	2006	c.1927_splice	c.e12+2	p.G643_splice	TIE1_uc010okd.1_Splice_Site_p.G643_splice|TIE1_uc010oke.1_Splice_Site_p.G598_splice|TIE1_uc009vwq.2_Splice_Site_p.G599_splice|TIE1_uc010okf.1_Splice_Site_p.G288_splice|TIE1_uc010okg.1_Splice_Site_p.G288_splice	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and						mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCCCAGTGGTATGTGCAAGG	0.632												
IPO13	9670	broad.mit.edu	37	1	44433122	44433122	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:44433122C>T	uc001ckx.2	+	19	3544	c.2749C>T	c.(2749-2751)CGC>TGC	p.R917C	IPO13_uc001cky.2_Missense_Mutation_p.R135C	NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	917					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCCTCTGCCCGCCTCAGCCC	0.617												
EIF2B3	8891	broad.mit.edu	37	1	45340387	45340387	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:45340387T>C	uc001cmt.1	-	10	1292	c.1165A>G	c.(1165-1167)AAT>GAT	p.N389D	EIF2B3_uc001cmu.1_Missense_Mutation_p.N389D|EIF2B3_uc001cmv.1_Missense_Mutation_p.N363D|EIF2B3_uc001cmw.2_Missense_Mutation_p.N389D	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	389					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					AGAAGGCAATTGGTAATAGTC	0.368												
MAST2	23139	broad.mit.edu	37	1	46497966	46497966	+	Silent	SNP	A	A	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:46497966A>C	uc001cov.2	+	25	3587	c.3304A>C	c.(3304-3306)AGG>CGG	p.R1102R	MAST2_uc001cow.2_Silent_p.R1102R|MAST2_uc001cpa.2_Intron	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1102					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)					TGGCAGCATGAGGCCTCCCAT	0.597												
FAAH	2166	broad.mit.edu	37	1	46874199	46874199	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:46874199G>A	uc001cpu.2	+	8	1102	c.1020G>A	c.(1018-1020)CCG>CCA	p.P340P	FAAH_uc001cpv.2_RNA	NM_001441	NP_001432	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	340	Cytoplasmic (By similarity).				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TGCCCTCCCCGGCCATGAGGC	0.617												
DMBX1	127343	broad.mit.edu	37	1	46977919	46977919	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:46977919C>T	uc001cpx.2	+	4	917	c.902C>T	c.(901-903)GCT>GTT	p.A301V	DMBX1_uc001cpw.2_Missense_Mutation_p.A296V	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	301					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCGGCTGCTGCTGTGCCCTAC	0.662												
ELAVL4	1996	broad.mit.edu	37	1	50661259	50661259	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:50661259C>T	uc001csb.2	+	5	803	c.535C>T	c.(535-537)CGC>TGC	p.R179C	ELAVL4_uc001cry.3_Missense_Mutation_p.R182C|ELAVL4_uc001crz.3_Missense_Mutation_p.R179C|ELAVL4_uc001csa.3_Missense_Mutation_p.R196C|ELAVL4_uc001csc.3_Missense_Mutation_p.R179C|ELAVL4_uc009vyu.2_Missense_Mutation_p.R184C|ELAVL4_uc010omz.1_Missense_Mutation_p.R184C	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	179	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GGGATTCATCCGCTTTGATAA	0.493												
NRD1	4898	broad.mit.edu	37	1	52269613	52269613	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:52269613A>G	uc001ctc.3	-	22	2712	c.2390T>C	c.(2389-2391)GTC>GCC	p.V797A	NRD1_uc009vzb.2_Missense_Mutation_p.V492A|NRD1_uc001ctd.3_Missense_Mutation_p.V729A|NRD1_uc001cte.2_Missense_Mutation_p.V665A|NRD1_uc001ctf.2_Missense_Mutation_p.V729A|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	728					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						AAGGATATTGACAAAGATATC	0.373												
NRD1	4898	broad.mit.edu	37	1	52280256	52280256	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:52280256A>T	uc001ctc.3	-	15	2112	c.1790T>A	c.(1789-1791)TTA>TAA	p.L597*	NRD1_uc009vzb.2_Nonsense_Mutation_p.L292*|NRD1_uc001ctd.3_Nonsense_Mutation_p.L529*|NRD1_uc001cte.2_Nonsense_Mutation_p.L465*|NRD1_uc001ctf.2_Nonsense_Mutation_p.L529*|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Nonsense_Mutation_p.L397*	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	528					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						CAGCATTTTTAAATACTGAAA	0.393												
CC2D1B	200014	broad.mit.edu	37	1	52825200	52825200	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:52825200C>T	uc001ctq.1	-	9	1087	c.949G>A	c.(949-951)GGT>AGT	p.G317S	CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Missense_Mutation_p.G8S	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	317										ovary(2)	2						AGGACAGCACCGAATCTCTGC	0.592												
HSPB11	51668	broad.mit.edu	37	1	54405717	54405717	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:54405717G>A	uc001cwh.2	-	2	115	c.39C>T	c.(37-39)TCC>TCT	p.S13S	HSPB11_uc001cwi.1_Silent_p.S13S	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	13					cell adhesion|response to stress						0						AAATCACTTCGGACCCTTCAG	0.328												
ACOT11	26027	broad.mit.edu	37	1	55072844	55072844	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:55072844G>A	uc001cxm.1	+	14	1490	c.1408G>A	c.(1408-1410)GCC>ACC	p.A470T	ACOT11_uc001cxj.1_Missense_Mutation_p.A348T|ACOT11_uc001cxl.1_Missense_Mutation_p.A470T	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	470	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						CGAGGACGACGCCATCTACCA	0.632												
JAK1	3716	broad.mit.edu	37	1	65335036	65335036	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:65335036A>G	uc001dbu.1	-	6	854	c.605T>C	c.(604-606)ATG>ACG	p.M202T	JAK1_uc009wam.1_Missense_Mutation_p.M190T	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	202	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTTCTTCATCATGGCATAGTG	0.498			Mis		ALL							
DNAJC6	9829	broad.mit.edu	37	1	65858124	65858124	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:65858124G>A	uc001dcd.1	+	12	1472	c.1308G>A	c.(1306-1308)TCG>TCA	p.S436S	DNAJC6_uc001dcc.1_Silent_p.S467S|DNAJC6_uc010opc.1_Silent_p.S423S|DNAJC6_uc001dce.1_Silent_p.S493S	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	436					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			large_intestine(1)|lung(1)|ovary(1)	3						ATCAGAAATCGGAGAAGTCAT	0.418												
IL23R	149233	broad.mit.edu	37	1	67648522	67648522	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:67648522C>T	uc001ddo.2	+	4	456	c.371C>T	c.(370-372)CCG>CTG	p.P124L	IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Missense_Mutation_p.P81L|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_Intron|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_5'UTR|IL23R_uc010opp.1_RNA|IL23R_uc010opq.1_5'UTR|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_5'UTR|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_5'UTR|IL23R_uc010opv.1_5'UTR|IL23R_uc010opw.1_5'UTR|IL23R_uc010opx.1_5'UTR|IL23R_uc010opy.1_5'UTR|IL23R_uc010opz.1_5'UTR|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_5'UTR|IL23R_uc010oqc.1_5'UTR|IL23R_uc010oqd.1_5'UTR|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	124	Extracellular (Potential).|Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 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|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						GTTGCAGATCCGCCAGATATT	0.343												
ST6GALNAC5	81849	broad.mit.edu	37	1	77509992	77509992	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:77509992G>A	uc001dhi.2	+	3	540	c.365G>A	c.(364-366)CGC>CAC	p.R122H	ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	122	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2						TGTGTCATCCGCATGAATGAC	0.607												
USP33	23032	broad.mit.edu	37	1	78183583	78183583	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:78183583C>T	uc001dht.2	-	18	2327	c.1980G>A	c.(1978-1980)CTG>CTA	p.L660L	USP33_uc001dhs.2_Silent_p.L381L|USP33_uc001dhu.2_Silent_p.L629L|USP33_uc001dhv.2_Silent_p.L465L|USP33_uc001dhw.2_Silent_p.L652L	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	660					axon guidance|cell migration|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|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						AAATGACTGACAGAAGATCAT	0.333												
PKN2	5586	broad.mit.edu	37	1	89226025	89226025	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:89226025A>G	uc001dmn.2	+	3	812	c.470A>G	c.(469-471)AAT>AGT	p.N157S	PKN2_uc001dmm.1_Missense_Mutation_p.N157S|PKN2_uc010osp.1_Missense_Mutation_p.N157S|PKN2_uc010osq.1_5'UTR|PKN2_uc009wcv.2_Missense_Mutation_p.N157S	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	157	REM 2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGTGCAGAGAATATGATACAG	0.269												
LRRC8C	84230	broad.mit.edu	37	1	90179228	90179228	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:90179228A>G	uc001dnl.3	+	3	1341	c.1099A>G	c.(1099-1101)AAA>GAA	p.K367E		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member	367						endoplasmic reticulum membrane|integral to membrane				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TCCAGATGTGAAAAATGACTT	0.388												
ARHGAP29	9411	broad.mit.edu	37	1	94667313	94667313	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:94667313C>T	uc001dqj.3	-	12	1613	c.1244G>A	c.(1243-1245)CGG>CAG	p.R415Q	ARHGAP29_uc009wdq.1_RNA	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	PTPL1-associated RhoGAP 1	415	Potential.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AACAAGTGTCCGGAGTTGTGC	0.308												
LPPR5	163404	broad.mit.edu	37	1	99470286	99470286	+	Translation_Start_Site	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:99470286C>A	uc001dsb.2	-	1	164	c.-58G>T	c.(-60--56)GAGGG>GATGG		uc001dsd.1_Intron|LPPR5_uc001dsc.2_Translation_Start_Site	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1							integral to membrane	hydrolase activity				0						GGTGGGCCCCCTCCCCGGTCC	0.542												
SASS6	163786	broad.mit.edu	37	1	100571405	100571405	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:100571405T>A	uc001dsu.2	-	13	1604	c.1463A>T	c.(1462-1464)GAT>GTT	p.D488V	SASS6_uc009wdz.2_Missense_Mutation_p.D321V	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	spindle assembly abnormal protein 6	488					centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TCCCAATACATCTTGCTTTCT	0.353												
C1orf59	113802	broad.mit.edu	37	1	109191480	109191480	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:109191480C>T	uc001dvt.3	-	8	1128	c.890G>A	c.(889-891)CGG>CAG	p.R297Q	C1orf59_uc001dvu.3_Missense_Mutation_p.R297Q|C1orf59_uc009wer.2_3'UTR	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	297					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)		CTTATCACCCCGTTCCCCAGC	0.507												
SARS	6301	broad.mit.edu	37	1	109772108	109772108	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:109772108C>T	uc001dwu.1	+	4	436	c.361C>T	c.(361-363)CGG>TGG	p.R121W	SARS_uc001dwt.1_Missense_Mutation_p.R121W|SARS_uc001dwv.1_Missense_Mutation_p.R121W|SARS_uc001dww.1_Missense_Mutation_p.R54W|SARS_uc001dwx.1_Missense_Mutation_p.R121W|SARS_uc009wfa.1_Missense_Mutation_p.R121W|SARS_uc001dwy.1_5'UTR|SARS_uc001dwz.1_5'UTR	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	121					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TGACGCGGAGCGGATAAAGTT	0.507												
RBM15	64783	broad.mit.edu	37	1	110884619	110884619	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:110884619T>C	uc001dzl.1	+	1	2675	c.2592T>C	c.(2590-2592)CCT>CCC	p.P864P	RBM15_uc001dzm.1_Silent_p.P864P|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	864	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGGCTGTGCCTGGAAGTTCTG	0.507			T	MKL1	acute megakaryocytic leukemia							
DDX20	11218	broad.mit.edu	37	1	112309020	112309020	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:112309020T>C	uc001ebs.2	+	11	2331	c.1974T>C	c.(1972-1974)TCT>TCC	p.S658S	DDX20_uc010owf.1_Silent_p.S420S|DDX20_uc001ebt.2_Silent_p.S266S	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	658					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			lung(1)|kidney(1)	2		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGTGATTCTTACAGCTCAA	0.423												
TRIM33	51592	broad.mit.edu	37	1	114940422	114940422	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:114940422T>C	uc001eew.2	-	20	3316	c.3232A>G	c.(3232-3234)ACA>GCA	p.T1078A	TRIM33_uc010owr.1_Missense_Mutation_p.T692A|TRIM33_uc010ows.1_Missense_Mutation_p.T710A|TRIM33_uc001eex.2_Missense_Mutation_p.T1061A	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	1078					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		TAGATCTCTGTGAGTTTATCT	0.438			T	RET	papillary thyroid							
NGF	4803	broad.mit.edu	37	1	115829311	115829311	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:115829311G>T	uc001efu.1	-	3	275	c.106C>A	c.(106-108)CAC>AAC	p.H36N		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	36					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TTAGTCCAGTGGGCTTGGGGG	0.597												
CD58	965	broad.mit.edu	37	1	117078722	117078722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:117078722G>A	uc001egm.2	-	3	614	c.493C>T	c.(493-495)CAA>TAA	p.Q165*	CD58_uc001egn.2_RNA|CD58_uc010owy.1_Nonsense_Mutation_p.Q165*|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Nonsense_Mutation_p.Q165*	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1	165	Extracellular (Potential).|Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		CGTTTACATTGCTCCATAGGA	0.353												
IGSF3	3321	broad.mit.edu	37	1	117122035	117122035	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:117122035C>T	uc001egr.1	-	10	4018	c.3313G>A	c.(3313-3315)GGC>AGC	p.G1105S	IGSF3_uc001egq.1_Missense_Mutation_p.G1125S	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	1105	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)		ACACGGATGCCGATGGGGGCT	0.522												
PTGFRN	5738	broad.mit.edu	37	1	117504095	117504095	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:117504095C>T	uc001egv.1	+	5	1581	c.1444C>T	c.(1444-1446)CGG>TGG	p.R482W		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	482	Extracellular (Potential).|Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GAGCAAGCAGCGGGCCCAGGA	0.502												
TRIM45	80263	broad.mit.edu	37	1	117656056	117656056	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:117656056C>T	uc001egz.2	-	5	2107	c.1519G>A	c.(1519-1521)GTG>ATG	p.V507M	TRIM45_uc009whe.2_Missense_Mutation_p.V489M|TRIM45_uc001eha.2_Missense_Mutation_p.V403M	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	tripartite motif-containing 45 isoform 1	507						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CAGTGAAACACGCCTGAGTGT	0.567												
PDE4DIP	9659	broad.mit.edu	37	1	145015953	145015953	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:145015953A>G	uc001elx.3	-	3	470	c.135T>C	c.(133-135)AGT>AGC	p.S45S	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Silent_p.S45S|PDE4DIP_uc001elo.2_Silent_p.S116S|PDE4DIP_uc001emh.2_Silent_p.S116S|uc001emj.2_Intron	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:Variant_position_missing_in_Q5VU43_after_alignment					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)		CCTTTTCACCACTTCTCCAGA	0.428			T	PDGFRB	MPD							
ANKRD34A	284615	broad.mit.edu	37	1	145473393	145473393	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:145473393G>A	uc001enq.1	+	4	1358	c.65G>A	c.(64-66)CGT>CAT	p.R22H	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	22	ANK 1.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCTTGGCCCGTTTGCTTCTG	0.662												
SETDB1	9869	broad.mit.edu	37	1	150923047	150923047	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:150923047G>A	uc001evu.2	+	13	1884	c.1694G>A	c.(1693-1695)CGT>CAT	p.R565H	SETDB1_uc009wmf.2_Missense_Mutation_p.R566H|SETDB1_uc001evv.2_Missense_Mutation_p.R565H|SETDB1_uc009wmg.1_Missense_Mutation_p.R565H	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCTCCTACCGTGCTCCCATG	0.602												
SEMA6C	10500	broad.mit.edu	37	1	151110219	151110219	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:151110219C>T	uc001ewu.2	-	10	1024	c.724G>A	c.(724-726)GAG>AAG	p.E242K	SEMA6C_uc001ewv.2_Missense_Mutation_p.E242K|SEMA6C_uc001eww.2_Missense_Mutation_p.E202K|SEMA6C_uc010pcq.1_Missense_Mutation_p.E242K|SEMA6C_uc009wml.1_RNA	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	242	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)			ACAGAGACCTCGCGGAAGAAG	0.552												
HRNR	388697	broad.mit.edu	37	1	152193646	152193646	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:152193646T>G	uc001ezt.1	-	3	535	c.459A>C	c.(457-459)GAA>GAC	p.E153D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	153	1.				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)			TGGATATGGATTCAGTCCCAG	0.443												
FLG	2312	broad.mit.edu	37	1	152275687	152275687	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:152275687C>T	uc001ezu.1	-	3	11711	c.11675G>A	c.(11674-11676)CGG>CAG	p.R3892Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3892	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3892Q(1)		ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGCTCCCGAGAAGATCC	0.542									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152275691	152275691	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:152275691A>C	uc001ezu.1	-	3	11707	c.11671T>G	c.(11671-11673)TCT>GCT	p.S3891A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3891	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCCCGAGAAGATCCATGA	0.547									Ichthyosis			
LCE3E	353145	broad.mit.edu	37	1	152538492	152538492	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:152538492G>A	uc001faa.2	-	2	249	c.193C>T	c.(193-195)CGC>TGC	p.R65C		NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	65					keratinization					ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		GACCTCTGGCGCCGGCATCGG	0.672												
AQP10	89872	broad.mit.edu	37	1	154293725	154293725	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:154293725T>C	uc001feu.2	+	1	134	c.94T>C	c.(94-96)TTT>CTT	p.F32L	AQP10_uc001fev.2_Missense_Mutation_p.F32L	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	32	Helical; (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTGGGTGTGTTTGTACTCAT	0.552												
HCN3	57657	broad.mit.edu	37	1	155257991	155257991	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:155257991C>T	uc001fjz.1	+	8	2070	c.2062C>T	c.(2062-2064)CGC>TGC	p.R688C	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R383C	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	688	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGGGCAGGGCGCTCCCAGGT	0.731												
PKLR	5313	broad.mit.edu	37	1	155265285	155265285	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:155265285G>A	uc001fkb.3	-	4	489	c.450C>T	c.(448-450)CCC>CCT	p.P150P	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.P119P|PKLR_uc010pga.1_Silent_p.P86P	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	150					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CGATGGCCACGGGCCGGTAGC	0.682												
ASH1L	55870	broad.mit.edu	37	1	155449044	155449044	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:155449044T>A	uc009wqq.2	-	3	4097	c.3617A>T	c.(3616-3618)GAT>GTT	p.D1206V	ASH1L_uc001fkt.2_Missense_Mutation_p.D1206V|ASH1L_uc009wqr.1_Missense_Mutation_p.D1206V	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1206					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCTGTTATTATCTGTTCCAAT	0.428												
SEMA4A	64218	broad.mit.edu	37	1	156128200	156128200	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:156128200C>A	uc001fnl.2	+	5	489	c.385C>A	c.(385-387)CGT>AGT	p.R129S	SEMA4A_uc009wrq.2_Missense_Mutation_p.R129S|SEMA4A_uc001fnm.2_Missense_Mutation_p.R129S|SEMA4A_uc001fnn.2_Intron|SEMA4A_uc001fno.2_Missense_Mutation_p.R129S	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	129	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CAACTTCATCCGTGTCCTGGT	0.547												
KIRREL	55243	broad.mit.edu	37	1	158045968	158045968	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:158045968C>T	uc001frn.3	+	2	522	c.118C>T	c.(118-120)CTC>TTC	p.L40F	KIRREL_uc010pib.1_Intron|KIRREL_uc009wsq.2_5'UTR	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	40	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					GCGGGCCGTGCTCCCCTGTGT	0.627												
SPTA1	6708	broad.mit.edu	37	1	158637847	158637847	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:158637847T>C	uc001fst.1	-	15	2038	c.1839A>G	c.(1837-1839)ATA>ATG	p.I613M		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	613	Spectrin 7.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCAAGTTCTGTATGTCCTGAG	0.358												
OR6K6	128371	broad.mit.edu	37	1	158724937	158724937	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:158724937C>A	uc001fsw.1	+	1	332	c.332C>A	c.(331-333)TCC>TAC	p.S111Y		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	111	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					AAGATGCTGTCCTGCCTAATC	0.512												
MNDA	4332	broad.mit.edu	37	1	158813817	158813817	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:158813817C>T	uc001fsz.1	+	4	675	c.475C>T	c.(475-477)CCA>TCA	p.P159S		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	159					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					GAGTAAGCCCCCAGGTCCCTC	0.458												
OR10J1	26476	broad.mit.edu	37	1	159410041	159410041	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:159410041A>T	uc010piv.1	+	1	493	c.493A>T	c.(493-495)ATT>TTT	p.I165F	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	165	Helical; Name=4; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					CATTGGGCTGATTGTAGCAAT	0.507												
ATP1A4	480	broad.mit.edu	37	1	160141484	160141484	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:160141484G>A	uc001fve.3	+	12	2270	c.1791G>A	c.(1789-1791)ATG>ATA	p.M597I	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.M100I	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	597	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCATATCCATGATTGACCCTC	0.488												
SLAMF6	114836	broad.mit.edu	37	1	160460408	160460408	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:160460408G>A	uc001fwe.1	-	4	774	c.714C>T	c.(712-714)TTC>TTT	p.F238F	SLAMF6_uc001fwd.1_Silent_p.F238F|SLAMF6_uc010pjh.1_Silent_p.F189F|SLAMF6_uc010pji.1_Silent_p.F127F|SLAMF6_uc010pjj.1_Silent_p.F127F	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	activating NK receptor precursor	238	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGATGAAACCGAAGACTATGC	0.353												
ARHGAP30	257106	broad.mit.edu	37	1	161021121	161021121	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:161021121A>G	uc001fxl.2	-	10	1749	c.1403T>C	c.(1402-1404)CTT>CCT	p.L468P	ARHGAP30_uc001fxk.2_Missense_Mutation_p.L468P|ARHGAP30_uc001fxm.2_Missense_Mutation_p.L314P|ARHGAP30_uc009wtx.2_Missense_Mutation_p.L141P|ARHGAP30_uc001fxn.1_Missense_Mutation_p.L314P	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	468					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			gccagggccaaggccagggcc	0.423												
NDUFS2	4720	broad.mit.edu	37	1	161183479	161183479	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:161183479G>A	uc001fyv.2	+	13	1701	c.1253G>A	c.(1252-1254)CGC>CAC	p.R418H	NDUFS2_uc001fyw.2_Missense_Mutation_p.R418H|NDUFS2_uc010pkj.1_Missense_Mutation_p.R367H|NDUFS2_uc001fyx.2_Missense_Mutation_p.R392H|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank	NM_004550	NP_004541	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2	418					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			skin(1)	1	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	GGCAGCAGCCGCCCTTATCGA	0.458												
ATF6	22926	broad.mit.edu	37	1	161928324	161928324	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:161928324G>A	uc001gbr.2	+	16	1960	c.1893G>A	c.(1891-1893)TCG>TCA	p.S631S	ATF6_uc001gbs.2_5'Flank	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	631	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TCAAAAGTTCGTCAGTTCCTC	0.517												
LRRC52	440699	broad.mit.edu	37	1	165532982	165532982	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:165532982C>T	uc001gde.2	+	2	919	c.863C>T	c.(862-864)GCC>GTC	p.A288V	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	288	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAGGACGAGGCCGGGACTAGG	0.562												
KIFAP3	22920	broad.mit.edu	37	1	169951178	169951178	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:169951178T>C	uc001ggv.2	-	15	2004	c.1733A>G	c.(1732-1734)GAT>GGT	p.D578G	KIFAP3_uc010plx.1_Missense_Mutation_p.D280G	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	578	ARM 4.				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAAGAGTCATCCATGGATAC	0.353												
C1orf9	51430	broad.mit.edu	37	1	172558810	172558810	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:172558810G>A	uc001giq.3	+	18	2885	c.2569G>A	c.(2569-2571)GTG>ATG	p.V857M	C1orf9_uc010pmm.1_Missense_Mutation_p.V857M|C1orf9_uc009wwd.2_Missense_Mutation_p.V813M|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	857					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)		GATTTCTGTTGTGGATTCTTC	0.403												
TNN	63923	broad.mit.edu	37	1	175097762	175097762	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:175097762C>T	uc001gkl.1	+	15	3323	c.3210C>T	c.(3208-3210)TGC>TGT	p.C1070C		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1070	Fibrinogen C-terminal.				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)		CTTCGGACTGCAGTCAGGTTC	0.557												
RFWD2	64326	broad.mit.edu	37	1	175916354	175916354	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:175916354C>T	uc001gku.1	-	19	2411	c.2155G>A	c.(2155-2157)GCT>ACT	p.A719T	RFWD2_uc001gkv.1_Missense_Mutation_p.A695T|RFWD2_uc001gkw.1_Missense_Mutation_p.A479T|RFWD2_uc009wwv.2_Missense_Mutation_p.A518T|RFWD2_uc001gkt.1_Missense_Mutation_p.A558T	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	719	WD 7.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TGACTGTTAGCAGCAATCAGC	0.363												
ASTN1	460	broad.mit.edu	37	1	177001903	177001903	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:177001903C>T	uc001glc.2	-	3	766	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	ASTN1_uc001glb.1_Missense_Mutation_p.R185Q|ASTN1_uc001gld.1_Missense_Mutation_p.R185Q|ASTN1_uc009wwx.1_Missense_Mutation_p.R185Q|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	185					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CTGCGGGACCCGGCGGCGTTT	0.617												
C1orf125	126859	broad.mit.edu	37	1	179504046	179504046	+	Missense_Mutation	SNP	G	G	C	rs34055408		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:179504046G>C	uc001gmo.2	+	25	3107	c.2980G>C	c.(2980-2982)GAA>CAA	p.E994Q	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.E920Q|C1orf125_uc009wxh.2_RNA	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	994	Glu-rich.										0						agaacaacaagaagaagaaga	0.224												
CACNA1E	777	broad.mit.edu	37	1	181767644	181767644	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:181767644T>C	uc001gow.2	+	47	6652	c.6487T>C	c.(6487-6489)TGC>CGC	p.C2163R	CACNA1E_uc009wxs.2_Missense_Mutation_p.C2051R|CACNA1E_uc009wxt.2_Missense_Mutation_p.C1432R	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2206	Cytoplasmic (Potential).			C -> W (in Ref. 2; AAA59204/AAA59205).	energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						CAACAATGCTTGCCTGACCGA	0.622												
ZNF648	127665	broad.mit.edu	37	1	182026250	182026250	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:182026250C>T	uc001goz.2	-	2	1104	c.896G>A	c.(895-897)CGC>CAC	p.R299H		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	299	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CGTGTGCAGGCGCCTGTGCTG	0.706												
RGS8	85397	broad.mit.edu	37	1	182617322	182617322	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:182617322T>C	uc010pnw.1	-	6	568	c.310A>G	c.(310-312)AAG>GAG	p.K104E	RGS8_uc001gpn.1_Missense_Mutation_p.K104E|RGS8_uc001gpm.1_Missense_Mutation_p.K122E	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	regulator of G-protein signalling 8 isoform 2	104	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)	1						CTATGGGCCTTAGAGACCAGT	0.537												
LAMC1	3915	broad.mit.edu	37	1	183105532	183105532	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:183105532C>T	uc001gpy.3	+	25	4383	c.4126C>T	c.(4126-4128)CGT>TGT	p.R1376C		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1376	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTGATAGGCGTGTGAACGA	0.453												
LAMC2	3918	broad.mit.edu	37	1	183201921	183201921	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:183201921C>T	uc001gqa.2	+	14	2463	c.2149C>T	c.(2149-2151)CGG>TGG	p.R717W	LAMC2_uc001gpz.3_Missense_Mutation_p.R717W|LAMC2_uc010poa.1_Missense_Mutation_p.R417W	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	717	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						GAACCGAGTTCGGGATACTCA	0.527												
GLT25D2	23127	broad.mit.edu	37	1	184006291	184006291	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:184006291C>T	uc001gqr.2	-	1	573	c.201G>A	c.(199-201)ACG>ACA	p.T67T	GLT25D2_uc010poj.1_Silent_p.T67T|GLT25D2_uc001gqs.2_Intron	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	67					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						AGTGCGGCAGCGTGTGCGCCG	0.607												
EDEM3	80267	broad.mit.edu	37	1	184672044	184672044	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:184672044T>C	uc010pok.1	-	19	2551	c.2290A>G	c.(2290-2292)ATG>GTG	p.M764V	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.M764V	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	764	PA.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						AAGAACAGCATGGGGATCTTG	0.463												
C1orf26	54823	broad.mit.edu	37	1	185144095	185144095	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:185144095C>A	uc001grg.3	+	5	930	c.816C>A	c.(814-816)AGC>AGA	p.S272R	C1orf26_uc001grh.3_Missense_Mutation_p.S272R	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	272											0						ACCTGGAAAGCTCCCAGGTTT	0.368												
HMCN1	83872	broad.mit.edu	37	1	186026532	186026532	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:186026532A>G	uc001grq.1	+	46	7540	c.7311A>G	c.(7309-7311)TCA>TCG	p.S2437S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2437	Ig-like C2-type 22.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGATTCTTTCAGGTATTAGAA	0.373												
HMCN1	83872	broad.mit.edu	37	1	186088390	186088390	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:186088390G>A	uc001grq.1	+	78	12145	c.11916G>A	c.(11914-11916)GCG>GCA	p.A3972A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3972	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTAGGAATGCGGCTGGCTCTG	0.398												
PTGS2	5743	broad.mit.edu	37	1	186645761	186645761	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:186645761G>A	uc001gsb.2	-	7	945	c.808C>T	c.(808-810)CGG>TGG	p.R270W	PTGS2_uc009wyo.2_Missense_Mutation_p.R117W	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	270					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|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)|central_nervous_system(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	ACAGCAAACCGTAGATGCTCA	0.463												
DENND1B	163486	broad.mit.edu	37	1	197611911	197611911	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:197611911T>C	uc001guf.3	-	10	940	c.602A>G	c.(601-603)AAC>AGC	p.N201S	DENND1B_uc010ppe.1_Missense_Mutation_p.N181S|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.N171S|DENND1B_uc001gug.3_5'UTR	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	201	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						CTGCAGCATGTTGTTCACATC	0.373												
NR5A2	2494	broad.mit.edu	37	1	200090068	200090068	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:200090068G>A	uc001gvb.2	+	7	1569	c.1363G>A	c.(1363-1365)GTG>ATG	p.V455M	NR5A2_uc001gvc.2_Missense_Mutation_p.V409M|NR5A2_uc009wzh.2_Missense_Mutation_p.V415M|NR5A2_uc010pph.1_Missense_Mutation_p.V383M	NM_205860	NP_995582	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	455					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Prostate(682;0.19)					GAAATTCTTGGTGCTCTTTAG	0.408												
GPR25	2848	broad.mit.edu	37	1	200842856	200842856	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:200842856C>T	uc001gvn.1	+	1	691	c.691C>T	c.(691-693)CGG>TGG	p.R231W		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	231	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						CCGCCTGCGACGGCCGCCGCA	0.687												
GPR25	2848	broad.mit.edu	37	1	200843100	200843100	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:200843100G>A	uc001gvn.1	+	1	935	c.935G>A	c.(934-936)CGC>CAC	p.R312H		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	312	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						CTGCTGGACCGCTCATTCCGA	0.706												
GPR25	2848	broad.mit.edu	37	1	200843201	200843201	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:200843201G>A	uc001gvn.1	+	1	1036	c.1036G>A	c.(1036-1038)GTG>ATG	p.V346M		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	346	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1						CGACAGTTCCGTGTTCCGTTG	0.736												
TIMM17A	10440	broad.mit.edu	37	1	201938668	201938668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:201938668C>T	uc001gxc.2	+	6	538	c.502C>T	c.(502-504)CGA>TGA	p.R168*		NM_006335	NP_006326	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17	168					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity				0						TGGAGACTATCGACAATATCA	0.398												
PPP1R12B	4660	broad.mit.edu	37	1	202464470	202464470	+	Missense_Mutation	SNP	C	C	T	rs143792888	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:202464470C>T	uc001gya.1	+	16	2339	c.2195C>T	c.(2194-2196)ACG>ATG	p.T732M	PPP1R12B_uc001gxz.1_Missense_Mutation_p.T732M|PPP1R12B_uc001gyb.1_Translation_Start_Site|PPP1R12B_uc001gyc.1_Translation_Start_Site	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	732					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAACCCACCACGCCAGCATCT	0.468												
KDM5B	10765	broad.mit.edu	37	1	202724446	202724446	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:202724446A>G	uc001gyf.2	-	11	1607	c.1491T>C	c.(1489-1491)TGT>TGC	p.C497C	KDM5B_uc009xag.2_Silent_p.C533C|KDM5B_uc001gyg.1_Silent_p.C339C	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	497	JmjC.				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						CAATGTGCCAACAGAATGAAG	0.423												
CYB5R1	51706	broad.mit.edu	37	1	202935932	202935932	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:202935932T>C	uc001gyt.2	-	2	181	c.110A>G	c.(109-111)CAG>CGG	p.Q37R	CYB5R1_uc010pqe.1_RNA	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	37					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.141)			GAGAGTGACCTGAGGCCGGCG	0.632												
REN	5972	broad.mit.edu	37	1	204130437	204130437	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:204130437C>T	uc001haq.2	-	3	400	c.356G>A	c.(355-357)CGT>CAT	p.R119H		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	119					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGTGTAGAGACGGCTGCACTT	0.577												
NFASC	23114	broad.mit.edu	37	1	204950930	204950930	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:204950930T>C	uc001hbj.2	+	21	2580	c.2252T>C	c.(2251-2253)ATG>ACG	p.M751T	NFASC_uc010pra.1_Missense_Mutation_p.M747T|NFASC_uc001hbi.2_Missense_Mutation_p.M747T|NFASC_uc010prb.1_Missense_Mutation_p.M762T|NFASC_uc010prc.1_Missense_Mutation_p.M318T|NFASC_uc001hbk.1_Missense_Mutation_p.M557T|NFASC_uc001hbl.1_Missense_Mutation_p.M1T	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	751	Extracellular (Potential).|Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCCAGCCCATGAATGCCACC	0.622												
AVPR1B	553	broad.mit.edu	37	1	206230974	206230974	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:206230974C>T	uc001hds.2	+	2	1265	c.1107C>T	c.(1105-1107)GAC>GAT	p.D369D		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	369	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGCTCTCCGACGGCAGCCTCT	0.701												
ANGEL2	90806	broad.mit.edu	37	1	213170497	213170497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:213170497C>A	uc001hjz.2	-	8	1638	c.1483G>T	c.(1483-1485)GGA>TGA	p.G495*	ANGEL2_uc010pto.1_Nonsense_Mutation_p.G369*|ANGEL2_uc010ptp.1_Nonsense_Mutation_p.G369*|ANGEL2_uc001hka.2_Nonsense_Mutation_p.G326*|ANGEL2_uc010ptq.1_RNA	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	LOC90806 protein	495											0				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CATTCCTTACCTGGGTGCCCA	0.413												
PROX1	5629	broad.mit.edu	37	1	214171309	214171309	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:214171309G>A	uc001hkh.2	+	2	1703	c.1431G>A	c.(1429-1431)ACG>ACA	p.T477T	PROX1_uc001hkg.1_Silent_p.T477T	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	477					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCTTCACCACGTCCACCTTCC	0.632												
USH2A	7399	broad.mit.edu	37	1	215955497	215955497	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:215955497G>A	uc001hku.1	-	54	11014	c.10627C>T	c.(10627-10629)CGT>TGT	p.R3543C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3543	Extracellular (Potential).|Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCCCGAAAACGTTCAATTCCA	0.373										HNSCC(13;0.011)		
RAB3GAP2	25782	broad.mit.edu	37	1	220369673	220369673	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:220369673T>C	uc010puk.1	-	10	1043	c.879A>G	c.(877-879)GCA>GCG	p.A293A	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	293					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		TATTTTTAATTGCTGCATTAA	0.353												
MARK1	4139	broad.mit.edu	37	1	220808733	220808733	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:220808733T>A	uc001hmn.3	+	12	1735	c.1138T>A	c.(1138-1140)TCG>ACG	p.S380T	MARK1_uc009xdw.2_Missense_Mutation_p.S380T|MARK1_uc010pun.1_Missense_Mutation_p.S380T|MARK1_uc001hmm.3_Missense_Mutation_p.S358T	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	380					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)		AGGTGGTGAATCGTTATCCAG	0.398												
MARK1	4139	broad.mit.edu	37	1	220809209	220809209	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:220809209C>A	uc001hmn.3	+	13	1908	c.1311C>A	c.(1309-1311)ACC>ACA	p.T437T	MARK1_uc009xdw.2_Silent_p.T437T|MARK1_uc010pun.1_Silent_p.T437T|MARK1_uc001hmm.3_Silent_p.T415T	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	437					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)		TATCATATACCAAAAGACCTC	0.403												
ENAH	55740	broad.mit.edu	37	1	225706918	225706918	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:225706918G>A	uc001hpc.1	-	5	1237	c.784C>T	c.(784-786)CGC>TGC	p.R262C	ENAH_uc001hpd.1_Missense_Mutation_p.R262C	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	262	Potential.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GATATTCTGCGCTCTCTCTCC	0.453												
EPHX1	2052	broad.mit.edu	37	1	226032324	226032324	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:226032324G>A	uc001hpk.2	+	8	1246	c.1166G>A	c.(1165-1167)CGG>CAG	p.R389Q	EPHX1_uc001hpl.2_Missense_Mutation_p.R389Q	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	389					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)					AAGCATGAGCGGTGAGCCTGG	0.602												
PARP1	142	broad.mit.edu	37	1	226567625	226567625	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:226567625T>C	uc001hqd.3	-	10	1712	c.1541A>G	c.(1540-1542)GAA>GGA	p.E514G		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	514	Automodification domain.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCCCTCACCTTCCTCCTTGAC	0.607								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA				
ITPKB	3707	broad.mit.edu	37	1	226924660	226924660	+	Missense_Mutation	SNP	G	G	A	rs3754416		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:226924660G>A	uc010pvo.1	-	2	840	c.500C>T	c.(499-501)CCG>CTG	p.P167L	ITPKB_uc001hqh.2_Missense_Mutation_p.P167L	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	167							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				GCCCAAACGCGGGCTGCGGGG	0.672												
ITPKB	3707	broad.mit.edu	37	1	226925055	226925055	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:226925055C>T	uc010pvo.1	-	2	445	c.105G>A	c.(103-105)CCG>CCA	p.P35P	ITPKB_uc001hqh.2_Silent_p.P35P	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	35							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				TCCTCGGGGGCGGGGGCGTCT	0.682												
CDC42BPA	8476	broad.mit.edu	37	1	227335096	227335096	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:227335096C>T	uc001hqr.2	-	7	1801	c.858G>A	c.(856-858)TCG>TCA	p.S286S	CDC42BPA_uc001hqs.2_Silent_p.S286S|CDC42BPA_uc009xes.2_Silent_p.S286S|CDC42BPA_uc010pvs.1_Silent_p.S286S	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	286	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTCCACCAGCGATTCTGCAT	0.353												
WNT9A	7483	broad.mit.edu	37	1	228112053	228112053	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:228112053G>A	uc001hri.2	-	3	489	c.401C>T	c.(400-402)ACG>ATG	p.T134M		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	134					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)				CAGTGCGTGCGTCAGGCCAGC	0.677												
OBSCN	84033	broad.mit.edu	37	1	228402120	228402120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:228402120C>T	uc009xez.1	+	4	1548	c.1504C>T	c.(1504-1506)CAG>TAG	p.Q502*	OBSCN_uc001hsn.2_Nonsense_Mutation_p.Q502*|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	502	Ig-like 5.				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)				GACGTCCACCCAGTTCTGCGT	0.652												
OBSCN	84033	broad.mit.edu	37	1	228402696	228402696	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:228402696C>T	uc009xez.1	+	5	1769	c.1725C>T	c.(1723-1725)ACC>ACT	p.T575T	OBSCN_uc001hsn.2_Silent_p.T575T|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	575	Fibronectin type-III 1.				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)				CTGAGCTGACCGTGGCTGATG	0.587												
OBSCN	84033	broad.mit.edu	37	1	228461665	228461665	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:228461665G>A	uc009xez.1	+	18	5376	c.5332G>A	c.(5332-5334)GTG>ATG	p.V1778M	OBSCN_uc001hsn.2_Missense_Mutation_p.V1778M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1778	Fibronectin type-III 2.				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)				CACCCTGACCGTGCATGGCGC	0.667												
COG2	22796	broad.mit.edu	37	1	230819335	230819335	+	Silent	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:230819335G>T	uc001htw.2	+	11	1333	c.1182G>T	c.(1180-1182)GCG>GCT	p.A394A	COG2_uc001htx.2_Silent_p.A394A|COG2_uc010pwc.1_Silent_p.A267A	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	394					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAGAAATAGCGGGATCCTTAG	0.388												
TRIM67	440730	broad.mit.edu	37	1	231298765	231298765	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:231298765C>T	uc009xfn.1	+	1	92	c.50C>T	c.(49-51)CCT>CTT	p.P17L		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	17	RING-type; degenerate.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TTTCGGGAGCCTATCATCCTG	0.672												
DISC1	27185	broad.mit.edu	37	1	231906637	231906637	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:231906637G>A	uc001huz.2	+	6	1508	c.1455G>A	c.(1453-1455)CAG>CAA	p.Q485Q	TSNAX-DISC1_uc010pwg.1_Silent_p.Q474Q|TSNAX-DISC1_uc010pwh.1_Silent_p.Q440Q|TSNAX-DISC1_uc010pwi.1_Silent_p.Q440Q|TSNAX-DISC1_uc010pwj.1_Silent_p.Q474Q|TSNAX-DISC1_uc010pwk.1_Silent_p.Q474Q|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwq.1_Silent_p.Q485Q|DISC1_uc010pwr.1_Silent_p.Q485Q|DISC1_uc010pws.1_Silent_p.Q485Q|DISC1_uc010pwt.1_Silent_p.Q485Q|DISC1_uc010pwu.1_Silent_p.Q135Q|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.Q485Q|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.Q485Q|DISC1_uc010pxb.1_Silent_p.Q485Q|DISC1_uc010pxc.1_Silent_p.Q485Q|DISC1_uc010pxd.1_Silent_p.Q130Q|DISC1_uc010pxe.1_Silent_p.Q485Q|DISC1_uc009xfr.2_Silent_p.Q440Q|DISC1_uc010pxf.1_Silent_p.Q485Q|DISC1_uc010pxg.1_Silent_p.Q485Q|DISC1_uc010pxh.1_Silent_p.Q517Q|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Silent_p.Q130Q|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Intron|DISC1_uc010pxn.1_Silent_p.Q130Q|DISC1_uc001hva.2_Silent_p.Q485Q	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	485	Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				AAGATCAACAGCTGAGAAGGG	0.517												
PCNXL2	80003	broad.mit.edu	37	1	233160952	233160952	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:233160952G>A	uc001hvl.2	-	26	4780	c.4545C>T	c.(4543-4545)AAC>AAT	p.N1515N	PCNXL2_uc001hvk.1_Silent_p.N167N|PCNXL2_uc001hvm.1_Intron	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1515						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGTGGCCGCGTTGTTGTCCA	0.547												
KCNK1	3775	broad.mit.edu	37	1	233802541	233802541	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:233802541C>T	uc010pxo.1	+	2	724	c.556C>T	c.(556-558)CTC>TTC	p.L186F	KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	186	Helical; (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)	CCATGCCGTGCTCCTTGGGTT	0.577												
TARBP1	6894	broad.mit.edu	37	1	234529428	234529428	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:234529428C>T	uc001hwd.2	-	27	4399	c.4399G>A	c.(4399-4401)GTG>ATG	p.V1467M		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1467					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AGCGAGGCCACAACGATGAGT	0.448												
RBM34	23029	broad.mit.edu	37	1	235295057	235295057	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:235295057G>A	uc001hwn.2	-	11	1294	c.1264C>T	c.(1264-1266)CGC>TGC	p.R422C	TOMM20_uc001hwl.2_5'Flank|RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA	NM_015014	NP_055829	P42696	RBM34_HUMAN	RNA binding motif protein 34 isoform 1	422						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTCTTAGGGCGTCCACTTTTC	0.368												
LYST	1130	broad.mit.edu	37	1	235967817	235967817	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:235967817G>A	uc001hxj.2	-	7	3717	c.3542C>T	c.(3541-3543)GCT>GTT	p.A1181V	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.A1181V	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1181					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTCAGTCATAGCATCATTATG	0.428									Chediak-Higashi_syndrome			
LGALS8	3964	broad.mit.edu	37	1	236700878	236700878	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:236700878G>A	uc001hxz.1	+	4	508	c.127G>A	c.(127-129)GCA>ACA	p.A43T	LGALS8_uc001hxw.1_Missense_Mutation_p.A43T|LGALS8_uc001hxy.1_Missense_Mutation_p.A43T|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.A43T|LGALS8_uc001hyb.1_Missense_Mutation_p.A43T|LGALS8_uc001hyc.1_Missense_Mutation_p.A43T	NM_201543	NP_963837	O00214	LEG8_HUMAN	galectin-8 isoform b	43	Galectin 1.					cytoplasm|extracellular space	sugar binding			ovary(1)	1	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCCTAGTGACGCAGACAGGTA	0.423												
RYR2	6262	broad.mit.edu	37	1	237806708	237806708	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:237806708G>A	uc001hyl.1	+	48	7423	c.7303G>A	c.(7303-7305)GTT>ATT	p.V2435I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2435	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTGGTGGGCGTTATCAGCAT	0.433												
RYR2	6262	broad.mit.edu	37	1	237865297	237865297	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:237865297T>C	uc001hyl.1	+	66	9507	c.9387T>C	c.(9385-9387)TCT>TCC	p.S3129S	RYR2_uc010pxz.1_Silent_p.S84S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3129					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCAGGTGTCTTGTTATAGAA	0.343												
FMN2	56776	broad.mit.edu	37	1	240255952	240255952	+	Silent	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:240255952G>T	uc010pyd.1	+	1	768	c.543G>T	c.(541-543)ACG>ACT	p.T181T	FMN2_uc010pye.1_Silent_p.T181T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	181					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)			GCTCGGACACGGACATCTATA	0.537												
MAP1LC3C	440738	broad.mit.edu	37	1	242159566	242159566	+	Missense_Mutation	SNP	C	C	T	rs112610111	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:242159566C>T	uc001hzk.2	-	4	418	c.343G>A	c.(343-345)GTG>ATG	p.V115M		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	115					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCATGTACACGAAGCCATCC	0.552												
KIF26B	55083	broad.mit.edu	37	1	245766056	245766056	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:245766056G>A	uc001ibf.1	+	6	1968	c.1528G>A	c.(1528-1530)GAT>AAT	p.D510N	KIF26B_uc010pyq.1_Missense_Mutation_p.D510N|KIF26B_uc001ibg.1_Missense_Mutation_p.D128N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	510	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GTTTGCCTTCGATGCAGTTTT	0.507												
NLRP3	114548	broad.mit.edu	37	1	247588619	247588619	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:247588619C>A	uc001icr.2	+	5	2012	c.1874C>A	c.(1873-1875)CCC>CAC	p.P625H	NLRP3_uc001ics.2_Missense_Mutation_p.P625H|NLRP3_uc001icu.2_Missense_Mutation_p.P625H|NLRP3_uc001icw.2_Missense_Mutation_p.P625H|NLRP3_uc001icv.2_Missense_Mutation_p.P625H|NLRP3_uc010pyw.1_Missense_Mutation_p.P623H|NLRP3_uc001ict.1_Missense_Mutation_p.P623H	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	625					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGATCCAGCCCAGCCAGCTG	0.463												
OR2AK2	391191	broad.mit.edu	37	1	248129532	248129532	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:248129532T>G	uc010pzd.1	+	1	899	c.899T>G	c.(898-900)CTG>CGG	p.L300R	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	300	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACACCTCTACTGAACCCATTT	0.463												
ADARB2	105	broad.mit.edu	37	10	1230952	1230952	+	Missense_Mutation	SNP	G	G	A	rs138785387		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:1230952G>A	uc009xhq.2	-	9	2266	c.1892C>T	c.(1891-1893)CCG>CTG	p.P631L	ADARB2_uc009xhp.2_Missense_Mutation_p.P15L|ADARB2_uc001igl.3_5'UTR|ADARB2_uc001igm.3_Missense_Mutation_p.P140L	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	631	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CGACTTCCCCGGCTGGCGCGC	0.682												
C10orf18	54906	broad.mit.edu	37	10	5772584	5772584	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:5772584C>T	uc001iij.2	+	11	1247	c.622C>T	c.(622-624)CGT>TGT	p.R208C	C10orf18_uc001iik.2_5'Flank	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	208										ovary(1)|central_nervous_system(1)	2						ATTAGTAAAGCGTCATTTCCA	0.413												
PRPF18	8559	broad.mit.edu	37	10	13642313	13642313	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:13642313G>A	uc001imp.2	+	3	362	c.214G>A	c.(214-216)GAG>AAG	p.E72K	PRPF18_uc001imq.2_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	PRP18 pre-mRNA processing factor 18 homolog	72					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)	1						TGAACTGGCAGAGGAAAAATT	0.368												
CUBN	8029	broad.mit.edu	37	10	16996544	16996544	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:16996544A>G	uc001ioo.2	-	32	4751	c.4699T>C	c.(4699-4701)TAC>CAC	p.Y1567H		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1567	CUB 10.				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)	AAGCCATCGTATGCCTACAAG	0.512												
VIM	7431	broad.mit.edu	37	10	17276790	17276790	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:17276790C>A	uc001iou.2	+	6	1394	c.981C>A	c.(979-981)ACC>ACA	p.T327T	VIM_uc001iov.1_Silent_p.T327T|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.T327T|VIM_uc001ioy.1_Silent_p.T327T|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Intron|VIM_uc001ipc.1_Silent_p.T327T	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	327	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGTCCCTCACCTGTGAAGTGG	0.532												
SLC39A12	221074	broad.mit.edu	37	10	18289716	18289716	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:18289716C>T	uc001ipo.2	+	11	1994	c.1721C>T	c.(1720-1722)ACG>ATG	p.T574M	SLC39A12_uc001ipn.2_Missense_Mutation_p.T537M|SLC39A12_uc001ipp.2_Missense_Mutation_p.T573M|SLC39A12_uc010qck.1_Missense_Mutation_p.T440M	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	574	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.T537M(1)		ovary(1)|breast(1)	2						GTGACCACTACGATTGCTATC	0.443												
NEBL	10529	broad.mit.edu	37	10	21141528	21141528	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:21141528A>G	uc001iqi.2	-	10	1351	c.954T>C	c.(952-954)GAT>GAC	p.D318D	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	318	Nebulin 9.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CAGCATCTGCATCAAAATGAT	0.438												
DNAJC1	64215	broad.mit.edu	37	10	22048203	22048203	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:22048203T>C	uc001irc.2	-	11	1779	c.1492A>G	c.(1492-1494)ACT>GCT	p.T498A	DNAJC1_uc001ird.2_Missense_Mutation_p.T384A	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	498	SANT 2.|Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TGATTTTGAGTCCACGGCTCC	0.537												
KIAA1217	56243	broad.mit.edu	37	10	24833918	24833918	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:24833918C>T	uc001iru.3	+	20	5623	c.5220C>T	c.(5218-5220)AGC>AGT	p.S1740S	KIAA1217_uc001irs.2_Silent_p.S1061S|KIAA1217_uc001irt.3_Silent_p.S1106S|KIAA1217_uc010qcy.1_Silent_p.S1171S|KIAA1217_uc010qcz.1_Silent_p.S1146S|KIAA1217_uc001irw.2_Silent_p.S890S|KIAA1217_uc001irz.2_Silent_p.S824S|KIAA1217_uc001irx.2_Silent_p.S1423S|KIAA1217_uc001iry.2_Silent_p.S864S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1740					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AGGGCTCCAGCGGGGCCCCAC	0.607												
MYO3A	53904	broad.mit.edu	37	10	26385373	26385373	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:26385373A>G	uc001isn.2	+	16	1986	c.1626A>G	c.(1624-1626)CTA>CTG	p.L542L	MYO3A_uc009xko.1_Silent_p.L542L|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.L542L	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	542	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						AGAAGAAACTAGCCCATTACA	0.313												
SVIL	6840	broad.mit.edu	37	10	29821473	29821473	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:29821473C>T	uc001iut.1	-	8	2576	c.1823G>A	c.(1822-1824)TGC>TAC	p.C608Y	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.C608Y	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	608					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)				AGGTCTCCTGCAGGCGTTGGC	0.562												
ZEB1	6935	broad.mit.edu	37	10	31809819	31809819	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:31809819A>G	uc001ivs.3	+	7	1619	c.1556A>G	c.(1555-1557)GAC>GGC	p.D519G	ZEB1_uc001ivr.3_Missense_Mutation_p.D301G|ZEB1_uc010qee.1_Missense_Mutation_p.D301G|ZEB1_uc010qef.1_Missense_Mutation_p.D301G|ZEB1_uc009xlj.1_Missense_Mutation_p.D445G|ZEB1_uc010qeg.1_Missense_Mutation_p.D378G|ZEB1_uc009xlk.1_Missense_Mutation_p.D301G|ZEB1_uc001ivt.3_Missense_Mutation_p.D301G|ZEB1_uc001ivu.3_Missense_Mutation_p.D520G|ZEB1_uc001ivv.3_Missense_Mutation_p.D499G|ZEB1_uc010qeh.1_Missense_Mutation_p.D452G|ZEB1_uc009xlo.1_Missense_Mutation_p.D502G|ZEB1_uc009xlp.2_Missense_Mutation_p.D503G	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	519					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				TCTGAGAAGGACAAAAGCTTT	0.368												
FZD8	8325	broad.mit.edu	37	10	35930056	35930056	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:35930056T>G	uc001iyz.1	-	1	307	c.302A>C	c.(301-303)AAG>ACG	p.K101T		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	101	FZ.|Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						CAGCGGCTTCTTGTAGTCCTC	0.672												
ANKRD30A	91074	broad.mit.edu	37	10	37414926	37414926	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:37414926G>A	uc001iza.1	+	1	142	c.43G>A	c.(43-45)GCC>ACC	p.A15T		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	71						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						TATACAAGACGCCCAGAAGAG	0.602												
RET	5979	broad.mit.edu	37	10	43602002	43602002	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:43602002C>T	uc001jal.2	+	5	1236	c.1046C>T	c.(1045-1047)GCG>GTG	p.A349V	RET_uc001jak.1_Missense_Mutation_p.A349V|RET_uc010qez.1_Missense_Mutation_p.A95V	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	349	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTCGTGCGGGCGACCGTACAT	0.647		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma			
CSGALNACT2	55454	broad.mit.edu	37	10	43659393	43659393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:43659393C>T	uc001jan.2	+	5	1395	c.1060C>T	c.(1060-1062)CGA>TGA	p.R354*		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	354	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						TGTGGGTGCCCGAGCTTGGGA	0.433												
HNRNPF	3185	broad.mit.edu	37	10	43882438	43882438	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:43882438T>C	uc009xmh.1	-	3	1382	c.895A>G	c.(895-897)AAA>GAA	p.K299E	HNRNPF_uc001jar.2_Missense_Mutation_p.K299E|HNRNPF_uc001jas.2_Missense_Mutation_p.K299E|HNRNPF_uc001jat.2_Missense_Mutation_p.K299E|HNRNPF_uc001jav.2_Missense_Mutation_p.K299E|HNRNPF_uc001jau.2_Missense_Mutation_p.K299E|uc010qfa.1_Silent_p.F40F	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	299	RRM 3.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						TCGGTCGCTTTGTACGGCAGG	0.527												
GPRIN2	9721	broad.mit.edu	37	10	46999909	46999909	+	Silent	SNP	G	G	A	rs138030134	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:46999909G>A	uc001jec.2	+	3	1164	c.1029G>A	c.(1027-1029)GCG>GCA	p.A343A	GPRIN2_uc010qfq.1_Silent_p.A106A	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	343											0						CCCCAGTGGCGGCCTGCAAGG	0.652												
GDF2	2658	broad.mit.edu	37	10	48416366	48416366	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:48416366G>A	uc001jfa.1	-	1	491	c.328C>T	c.(328-330)CGG>TGG	p.R110W		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	110					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						CTGAAGCTCCGCACAATGTTG	0.498												
ERCC6	2074	broad.mit.edu	37	10	50701224	50701224	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:50701224G>A	uc001jhs.3	-	8	1914	c.1760C>T	c.(1759-1761)ACG>ATG	p.T587M	ERCC6_uc010qgr.1_Intron|ERCC6_uc001jhr.3_Translation_Start_Site	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	587	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						AGGCCACCACGTGTGAAATTC	0.423								Direct_reversal_of_damage|NER				
PCDH15	65217	broad.mit.edu	37	10	55943317	55943317	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:55943317C>T	uc001jju.1	-	13	1872	c.1477G>A	c.(1477-1479)GTC>ATC	p.V493I	PCDH15_uc010qhq.1_Missense_Mutation_p.V498I|PCDH15_uc010qhr.1_Missense_Mutation_p.V493I|PCDH15_uc010qhs.1_Missense_Mutation_p.V505I|PCDH15_uc010qht.1_Missense_Mutation_p.V500I|PCDH15_uc010qhu.1_Missense_Mutation_p.V493I|PCDH15_uc001jjv.1_Missense_Mutation_p.V471I|PCDH15_uc010qhv.1_Missense_Mutation_p.V493I|PCDH15_uc010qhw.1_Missense_Mutation_p.V456I|PCDH15_uc010qhx.1_Missense_Mutation_p.V493I|PCDH15_uc010qhy.1_Missense_Mutation_p.V498I|PCDH15_uc010qhz.1_Missense_Mutation_p.V493I|PCDH15_uc010qia.1_Missense_Mutation_p.V471I|PCDH15_uc010qib.1_Missense_Mutation_p.V471I|PCDH15_uc001jjw.2_Missense_Mutation_p.V493I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	493	Cadherin 4.|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)				TTGACGATGACTGGCTCACTT	0.388										HNSCC(58;0.16)		
ANK3	288	broad.mit.edu	37	10	61827734	61827734	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:61827734C>A	uc001jky.2	-	38	12470	c.12278G>T	c.(12277-12279)AGG>ATG	p.R4093M	ANK3_uc001jkw.2_Missense_Mutation_p.R614M|ANK3_uc009xpa.2_Missense_Mutation_p.R614M|ANK3_uc001jkx.2_Missense_Mutation_p.R658M|ANK3_uc010qih.1_Missense_Mutation_p.R1481M|ANK3_uc001jkz.3_Missense_Mutation_p.R1474M|ANK3_uc001jkv.2_Missense_Mutation_p.R13M|ANK3_uc009xpb.1_RNA	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4093	Death.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TATTGCCATCCTGATATCTGT	0.368												
CDH23	64072	broad.mit.edu	37	10	73437370	73437370	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:73437370G>A	uc001jrx.3	+	15	2049	c.1672G>A	c.(1672-1674)GTG>ATG	p.V558M	CDH23_uc001jry.2_Missense_Mutation_p.V174M|CDH23_uc001jrz.2_Missense_Mutation_p.V174M	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	558	Cadherin 5.|Extracellular (Potential).				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						CAACGACAACGTGCCCACCTT	0.632												
SPOCK2	9806	broad.mit.edu	37	10	73827479	73827479	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:73827479C>T	uc001jso.1	-	7	1046	c.601G>A	c.(601-603)GGT>AGT	p.G201S	SPOCK2_uc001jsp.2_Missense_Mutation_p.G201S	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	201					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0						AGGTCCTGACCGGTGCAAGTC	0.607												
NUDT13	25961	broad.mit.edu	37	10	74879892	74879892	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:74879892T>G	uc001jtj.2	+	3	325	c.200T>G	c.(199-201)CTG>CGG	p.L67R	NUDT13_uc010qkc.1_5'UTR|NUDT13_uc010qkd.1_5'UTR|NUDT13_uc009xqw.2_RNA|NUDT13_uc001jtk.2_Missense_Mutation_p.L67R|NUDT13_uc010qke.1_5'UTR|NUDT13_uc001jtl.2_Missense_Mutation_p.L67R	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	nudix-type motif 13	67							hydrolase activity|metal ion binding				0	Prostate(51;0.0119)					CATCAATACCTGGCCCCCCGG	0.498												
CHCHD1	118487	broad.mit.edu	37	10	75541869	75541869	+	Silent	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:75541869G>C	uc001jvc.3	+	1	62	c.36G>C	c.(34-36)CGG>CGC	p.R12R	CHCHD1_uc001jvb.2_Silent_p.R12R	NM_203298	NP_976043	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain	12						nucleus					0	Prostate(51;0.0112)					GTCTGGCGCGGTTTGGGAACC	0.672												
NDST2	8509	broad.mit.edu	37	10	75565424	75565424	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:75565424C>T	uc001jvk.2	-	8	2471	c.1667G>A	c.(1666-1668)CGC>CAC	p.R556H	NDST2_uc010qks.1_Missense_Mutation_p.R182H|NDST2_uc010qkt.1_Missense_Mutation_p.R433H|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Missense_Mutation_p.R182H|NDST2_uc010qku.1_Missense_Mutation_p.R431H	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	556	Lumenal (Potential).|Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					GGTCTGTAGGCGCAGCCGTGT	0.532												
MYST4	23522	broad.mit.edu	37	10	76603125	76603125	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:76603125G>A	uc001jwn.1	+	3	1003	c.510G>A	c.(508-510)CCG>CCA	p.P170P	MYST4_uc001jwm.1_Silent_p.P170P|MYST4_uc001jwo.1_Silent_p.P170P|MYST4_uc001jwp.1_Silent_p.P170P	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	170	H15.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					AAGACGGACCGCAGTACAGGG	0.562			T	CREBBP	AML							
KCNMA1	3778	broad.mit.edu	37	10	78870034	78870034	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:78870034A>G	uc001jxn.2	-	8	1205	c.1028T>C	c.(1027-1029)GTC>GCC	p.V343A	KCNMA1_uc001jxj.2_Missense_Mutation_p.V343A|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.V163A|KCNMA1_uc001jxl.1_5'UTR|KCNMA1_uc001jxo.2_Missense_Mutation_p.V343A|KCNMA1_uc001jxm.2_Missense_Mutation_p.V343A|KCNMA1_uc001jxq.2_Missense_Mutation_p.V343A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	343					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)	GAGTAAATAGACACATTCCCA	0.468												
NRG3	10718	broad.mit.edu	37	10	83635520	83635520	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:83635520G>A	uc001kco.2	+	1	451	c.424G>A	c.(424-426)GCC>ACC	p.A142T	NRG3_uc010qlz.1_Missense_Mutation_p.A142T|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	142	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)		caccccctccgccGGGGGTGC	0.527												
CDHR1	92211	broad.mit.edu	37	10	85974164	85974164	+	Silent	SNP	G	G	A	rs150097621	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:85974164G>A	uc001kcv.2	+	17	2367	c.2367G>A	c.(2365-2367)CCG>CCA	p.P789P	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Silent_p.P493P|CDHR1_uc001kcx.2_Silent_p.P103P	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	789	Cytoplasmic (Potential).|Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CTCTGCTCCCGAGAGCTCCGG	0.592												
RGR	5995	broad.mit.edu	37	10	86017717	86017717	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:86017717C>T	uc001kdc.1	+	6	737	c.699C>T	c.(697-699)TAC>TAT	p.Y233Y	RGR_uc001kdd.1_Silent_p.Y237Y|RGR_uc001kde.1_Intron	NM_001012720	NP_001012738	P47804	RGR_HUMAN	retinal G-protein coupled receptor isoform 2	233	Helical; Name=6; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			ovary(1)	1						TGTATCTATACGCAGTCATCG	0.517												
RNLS	55328	broad.mit.edu	37	10	90342924	90342924	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:90342924G>A	uc001kfe.2	-	1	159	c.24C>T	c.(22-24)GGC>GGT	p.G8G	RNLS_uc010qms.1_Silent_p.G8G|RNLS_uc001kfd.2_Silent_p.G8G	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	8						extracellular region	oxidoreductase activity			ovary(1)	1						TCATCCCGGCGCCCACGATCA	0.672											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HECTD2	143279	broad.mit.edu	37	10	93244943	93244943	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:93244943C>T	uc001khl.2	+	10	1077	c.977C>T	c.(976-978)GCA>GTA	p.A326V	LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Missense_Mutation_p.A330V|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing 2 isoform a	326					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			skin(1)	1						ACAGATACTGCAAACAATTTA	0.303												
MYOF	26509	broad.mit.edu	37	10	95116503	95116503	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:95116503G>A	uc001kin.2	-	30	3346	c.3223C>T	c.(3223-3225)CGC>TGC	p.R1075C	MYOF_uc001kio.2_Missense_Mutation_p.R1062C|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1075	Cytoplasmic (Potential).|Poly-Arg.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						CTCCTCCAGCGTCTGCGGCGG	0.483												
ALDH18A1	5832	broad.mit.edu	37	10	97402837	97402837	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:97402837C>A	uc001kkz.2	-	3	457	c.215G>T	c.(214-216)AGA>ATA	p.R72I	ALDH18A1_uc001kky.2_Missense_Mutation_p.R72I|ALDH18A1_uc010qog.1_Intron|ALDH18A1_uc010qoh.1_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	72	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CACCACGATTCTCTTGGCATG	0.567												
BLNK	29760	broad.mit.edu	37	10	97987266	97987266	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:97987266G>A	uc001kls.3	-	5	439	c.261C>T	c.(259-261)CCC>CCT	p.P87P	BLNK_uc001kme.3_Silent_p.P5P|BLNK_uc001klt.3_Silent_p.P5P|BLNK_uc009xvc.2_Intron|BLNK_uc001klu.3_Silent_p.P5P|BLNK_uc001klv.3_Silent_p.P87P|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Silent_p.P87P|BLNK_uc001kly.3_Silent_p.P87P|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Silent_p.P87P|BLNK_uc001kmb.3_5'UTR|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Silent_p.P5P|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	87					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCTCCTCGGCGGGCATCACGT	0.577												
PIK3AP1	118788	broad.mit.edu	37	10	98355339	98355339	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:98355339G>A	uc001kmq.2	-	17	2541	c.2413C>T	c.(2413-2415)CGC>TGC	p.R805C	PIK3AP1_uc001kmo.2_Missense_Mutation_p.R404C|PIK3AP1_uc001kmp.2_Missense_Mutation_p.R627C	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	805						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGGAATCAGCGTCCTCTGGGT	0.428												
MMS19	64210	broad.mit.edu	37	10	99237151	99237151	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:99237151T>C	uc001kns.3	-	6	671	c.446A>G	c.(445-447)CAC>CGC	p.H149R	MMS19_uc009xvt.2_5'UTR|MMS19_uc001knr.2_5'UTR|MMS19_uc010qox.1_Missense_Mutation_p.H170R|MMS19_uc001knt.2_Missense_Mutation_p.H149R|MMS19_uc001knu.1_RNA	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	149					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		GTAGACTGTGTGTCGGTCCAC	0.458								Direct_reversal_of_damage|NER				
PYROXD2	84795	broad.mit.edu	37	10	100146994	100146994	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:100146994T>C	uc001kpc.2	-	14	1604	c.1518A>G	c.(1516-1518)CCA>CCG	p.P506P	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	506							oxidoreductase activity			central_nervous_system(1)	1						CCAAATCTGGTGGTGTGAGGA	0.522												
PYROXD2	84795	broad.mit.edu	37	10	100147054	100147054	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:100147054G>A	uc001kpc.2	-	14	1544	c.1458C>T	c.(1456-1458)TGC>TGT	p.C486C	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	486							oxidoreductase activity			central_nervous_system(1)	1						AGACCTCGATGCAATCAAACA	0.418												
HPS1	3257	broad.mit.edu	37	10	100189343	100189343	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:100189343G>A	uc010qpf.1	-	10	1170	c.924C>T	c.(922-924)GGC>GGT	p.G308G	HPS1_uc001kpi.1_Silent_p.G308G|HPS1_uc001kpj.1_Silent_p.G215G|HPS1_uc001kpk.1_Silent_p.G188G|HPS1_uc009xwb.2_RNA|HPS1_uc010qph.1_Silent_p.G308G|HPS1_uc001kpl.2_Silent_p.G308G	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	308					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTCTGATCGCCAGGGGAAG	0.587									Hermansky-Pudlak_syndrome			
GOT1	2805	broad.mit.edu	37	10	101163327	101163327	+	Silent	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:101163327G>T	uc001kpr.2	-	7	1066	c.858C>A	c.(856-858)TCC>TCA	p.S286S	GOT1_uc009xwh.2_RNA|GOT1_uc001kpq.1_5'UTR	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	286					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCTCCATCTGGGAAAGGACTT	0.532												
SEC31B	25956	broad.mit.edu	37	10	102257433	102257433	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:102257433C>T	uc001krc.1	-	16	2083	c.1981G>A	c.(1981-1983)GAG>AAG	p.E661K	SEC31B_uc010qpo.1_Missense_Mutation_p.E660K|SEC31B_uc001krd.1_Missense_Mutation_p.E198K|SEC31B_uc001krf.1_Missense_Mutation_p.E198K|SEC31B_uc001kre.1_Missense_Mutation_p.E198K|SEC31B_uc001krg.1_Missense_Mutation_p.E230K	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	661					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCACAGAGCTCGGGAAATTTC	0.517												
LZTS2	84445	broad.mit.edu	37	10	102762432	102762432	+	Missense_Mutation	SNP	G	G	A	rs138910628		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:102762432G>A	uc001ksj.2	+	2	206	c.137G>A	c.(136-138)CGC>CAC	p.R46H	LZTS2_uc010qpw.1_Missense_Mutation_p.R46H|LZTS2_uc001ksk.2_Missense_Mutation_p.R46H|LZTS2_uc001ksl.2_Missense_Mutation_p.R46H|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	46	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCTCCTCCCCGCCACCACGGC	0.687												
ELOVL3	83401	broad.mit.edu	37	10	103988245	103988245	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:103988245T>C	uc001kut.2	+	3	468	c.305T>C	c.(304-306)GTG>GCG	p.V102A		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	elongation of very long chain fatty acids like	102					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			ovary(2)	2		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		AAGCAAACCGTGTGCTTCATC	0.488												
ACTR1A	10121	broad.mit.edu	37	10	104241809	104241809	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:104241809G>A	uc001kvv.2	-	8	982	c.874C>T	c.(874-876)CGC>TGC	p.R292C	ACTR1A_uc010qqn.1_Missense_Mutation_p.R218C|ACTR1A_uc010qqo.1_Missense_Mutation_p.R245C	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	292					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AAAAGCGTGCGCCGCAGGTCC	0.537												
PDCD11	22984	broad.mit.edu	37	10	105187133	105187133	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:105187133T>C	uc001kwy.1	+	21	3440	c.3353T>C	c.(3352-3354)CTG>CCG	p.L1118P		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1118					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATCCCGGAGCTGAGTGTTCGG	0.299												
CCDC147	159686	broad.mit.edu	37	10	106121892	106121892	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:106121892G>A	uc001kyh.2	+	3	537	c.403G>A	c.(403-405)GAG>AAG	p.E135K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	135	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CAAACTAGTGGAGCAGGGGTC	0.478												
CCDC147	159686	broad.mit.edu	37	10	106160488	106160488	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:106160488T>C	uc001kyh.2	+	13	2000	c.1866T>C	c.(1864-1866)GAT>GAC	p.D622D		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	622										ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGCGCAATGATGAGTTAGCTT	0.502												
GPAM	57678	broad.mit.edu	37	10	113920602	113920602	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:113920602C>T	uc009xxy.1	-	16	1717	c.1519G>A	c.(1519-1521)GAA>AAA	p.E507K	GPAM_uc001kzp.2_Missense_Mutation_p.E507K|GPAM_uc001kzq.1_Missense_Mutation_p.E507K	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	507	Mitochondrial intermembrane (Potential).|Cytoplasmic (Potential).				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			ovary(1)|skin(1)	2				Epithelial(162;0.0306)|all cancers(201;0.123)		AAGAAGTCTTCGACCAATGTG	0.433												
ZDHHC6	64429	broad.mit.edu	37	10	114200317	114200317	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:114200317G>A	uc001kzv.2	-	5	1080	c.656C>T	c.(655-657)GCT>GTT	p.A219V	ZDHHC6_uc001kzw.2_Missense_Mutation_p.A215V|ZDHHC6_uc009xya.1_Missense_Mutation_p.A219V	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	219	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CATCCCAACAGCTATGGTTGT	0.433												
TCF7L2	6934	broad.mit.edu	37	10	114925707	114925707	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:114925707G>A	uc001lae.3	+	14	2292	c.1785G>A	c.(1783-1785)TCG>TCA	p.S595S	TCF7L2_uc001lac.3_Silent_p.S589S|TCF7L2_uc010qrk.1_3'UTR|TCF7L2_uc010qrl.1_Silent_p.S572S|TCF7L2_uc010qrm.1_3'UTR|TCF7L2_uc010qrn.1_3'UTR|TCF7L2_uc001lad.3_3'UTR|TCF7L2_uc001lag.3_3'UTR|TCF7L2_uc001laf.3_Silent_p.S572S|TCF7L2_uc010qro.1_3'UTR|TCF7L2_uc001lah.2_3'UTR|TCF7L2_uc010qrp.1_3'UTR|TCF7L2_uc010qrq.1_3'UTR|TCF7L2_uc010qrr.1_Silent_p.S527S|TCF7L2_uc010qrs.1_Silent_p.S483S|TCF7L2_uc010qrt.1_Silent_p.S483S|TCF7L2_uc010qru.1_3'UTR|TCF7L2_uc010qrv.1_3'UTR|TCF7L2_uc010qrw.1_3'UTR|TCF7L2_uc010qrx.1_3'UTR	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	612					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)		AGCCGCTGTCGCTCGTCACCA	0.552												
GRK5	2869	broad.mit.edu	37	10	120967430	120967430	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:120967430A>G	uc001led.2	+	1	234	c.1A>G	c.(1-3)ATG>GTG	p.M1V	GRK5_uc009xzh.2_5'UTR|GRK5_uc010qta.1_5'Flank	NM_005308	NP_005299	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	1	N-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			lung(2)|stomach(1)	3		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CCGACTGTCAATGGAGCTGGA	0.537												
TACC2	10579	broad.mit.edu	37	10	123903223	123903223	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:123903223T>C	uc001lfv.2	+	7	6194	c.5834_splice	c.e7+2	p.R1945_splice	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Intron|TACC2_uc010qtv.1_Intron|TACC2_uc001lfx.2_Intron|TACC2_uc001lfy.2_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing							microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCTCAGCAGGTATTGCGCAAG	0.617												
ZRANB1	54764	broad.mit.edu	37	10	126631559	126631559	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:126631559C>A	uc001lic.2	+	1	868	c.497C>A	c.(496-498)GCT>GAT	p.A166D	ZRANB1_uc010qug.1_Missense_Mutation_p.A192D	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	166	RanBP2-type 3.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGGGCCAAGGCTAAAAGATGT	0.393												
DHX32	55760	broad.mit.edu	37	10	127548316	127548316	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:127548316T>C	uc001ljf.1	-	3	1196	c.705A>G	c.(703-705)ATA>ATG	p.I235M	DHX32_uc001ljg.1_Missense_Mutation_p.I235M|DHX32_uc009yam.1_Missense_Mutation_p.I71M	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	235	Helicase ATP-binding.					mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTTCACTTCTATGACAGGCA	0.383												
MKI67	4288	broad.mit.edu	37	10	129913862	129913862	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:129913862G>A	uc001lke.2	-	7	1005	c.810C>T	c.(808-810)TAC>TAT	p.Y270Y	MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	270					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTCTGTTGCGTAATCAGTTT	0.428												
EBF3	253738	broad.mit.edu	37	10	131671783	131671783	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:131671783G>A	uc001lki.1	-	8	773	c.714C>T	c.(712-714)TCC>TCT	p.S238S		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	238	Interaction with DNA (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCCCGTGTTTGGAATTGTTGT	0.502												
CYP2E1	1571	broad.mit.edu	37	10	135342020	135342020	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:135342020C>T	uc001lnj.1	+	2	246	c.213C>T	c.(211-213)TAC>TAT	p.Y71Y	CYP2E1_uc001lnk.1_Intron|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_Intron	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	71					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TCACGCTGTACGTGGGCTCGC	0.677									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
ATHL1	80162	broad.mit.edu	37	11	292902	292902	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:292902G>A	uc010qvu.1	+	7	1290	c.1175G>A	c.(1174-1176)CGA>CAA	p.R392Q	ATHL1_uc001lor.3_Missense_Mutation_p.R215Q|ATHL1_uc001los.1_Missense_Mutation_p.R392Q|ATHL1_uc001lou.3_5'Flank|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	392					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCTATTTCGAGAGGCTGGT	0.622												
B4GALNT4	338707	broad.mit.edu	37	11	375712	375712	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:375712G>A	uc001lpb.2	+	10	933	c.924G>A	c.(922-924)CCG>CCA	p.P308P		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	308	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGGCGTCCGCCGCAGGAGG	0.547												
B4GALNT4	338707	broad.mit.edu	37	11	379925	379925	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:379925C>T	uc001lpb.2	+	16	2557	c.2548C>T	c.(2548-2550)CGC>TGC	p.R850C		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	850	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCACGCGCGCACCGGGGA	0.687												
DEAF1	10522	broad.mit.edu	37	11	644595	644595	+	Silent	SNP	G	G	A	rs142320326		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:644595G>A	uc001lqq.1	-	12	2346	c.1653C>T	c.(1651-1653)GAC>GAT	p.D551D	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	551					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|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;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CGTGGACTTCGTCTGCCTGGA	0.622												
MUC2	4583	broad.mit.edu	37	11	1096474	1096474	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:1096474C>T	uc001lsx.1	+	37	13612	c.13585C>T	c.(13585-13587)CCC>TCC	p.P4529S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4529	VWFD 4.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCACTGCGATCCCAACGACAA	0.582												
CD81	975	broad.mit.edu	37	11	2417910	2417910	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:2417910T>A	uc001lwf.1	+	7	847	c.614T>A	c.(613-615)ATC>AAC	p.I205N	CD81_uc001lwg.1_Missense_Mutation_p.I198N|CD81_uc001lwh.1_RNA	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	205	Helical; (Potential).				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding				0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTGTACCTCATCGGCATTGCT	0.677												
OR52I1	390037	broad.mit.edu	37	11	4615541	4615541	+	Silent	SNP	G	G	A	rs140688996	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:4615541G>A	uc010qyi.1	+	1	273	c.273G>A	c.(271-273)TCG>TCA	p.S91S		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCTGCTCGGGAGACAGCT	0.522												
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5624931	5624931	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:5624931C>T	uc001mbf.2	+	2	717	c.473C>T	c.(472-474)ACG>ATG	p.T158M	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.T104M|TRIM6_uc010qzj.1_Translation_Start_Site|TRIM6_uc001mbc.1_Missense_Mutation_p.T130M|TRIM6_uc001mbe.2_Translation_Start_Site|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.T158M|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	158						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GGTCACCACACGTTCCTCGTG	0.532												
OR52N2	390077	broad.mit.edu	37	11	5841962	5841962	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:5841962C>T	uc010qzp.1	+	1	397	c.397C>T	c.(397-399)CGC>TGC	p.R133C	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACCCCTTACGCTATGCCAC	0.542												
C11orf42	160298	broad.mit.edu	37	11	6231118	6231118	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:6231118A>G	uc001mcj.2	+	2	159	c.111A>G	c.(109-111)GTA>GTG	p.V37V		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	hypothetical protein LOC160298	37										ovary(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTAGCAGTACCTTTCCTGT	0.562												
FAM160A2	84067	broad.mit.edu	37	11	6232863	6232863	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:6232863A>G	uc001mcl.3	-	12	3151	c.2792T>C	c.(2791-2793)TTC>TCC	p.F931S	FAM160A2_uc001mck.3_Missense_Mutation_p.F945S	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	931					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						AAATTCAGGGAAAATGACTGC	0.562												
DENND5A	23258	broad.mit.edu	37	11	9225343	9225343	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:9225343G>A	uc001mhl.2	-	4	1068	c.813C>T	c.(811-813)TGC>TGT	p.C271C	DENND5A_uc010rbw.1_Silent_p.C271C|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	271	DENN.									liver(1)	1						TTGGTCTCTGGCAGATTATTG	0.493												
AMPD3	272	broad.mit.edu	37	11	10521642	10521642	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:10521642T>C	uc001mio.1	+	11	1902	c.1567T>C	c.(1567-1569)TTT>CTT	p.F523L	AMPD3_uc010rbz.1_Missense_Mutation_p.F364L|AMPD3_uc001min.1_Missense_Mutation_p.F532L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.F530L|AMPD3_uc009yfy.2_Missense_Mutation_p.F523L	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	523					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GGTGACGGGGTTTGACAGCGT	0.607												
CTR9	9646	broad.mit.edu	37	11	10786257	10786257	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:10786257G>A	uc001mja.2	+	12	1725	c.1576G>A	c.(1576-1578)GAA>AAA	p.E526K		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	526	TPR 10.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CATCTTACGCGAACATCCTAA	0.358												
GALNTL4	374378	broad.mit.edu	37	11	11454168	11454168	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:11454168C>T	uc001mjo.2	-	3	1016	c.595G>A	c.(595-597)GAG>AAG	p.E199K		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	199	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CGACACTCACCGTTACTGCTG	0.572												
CALCA	796	broad.mit.edu	37	11	14989262	14989262	+	Silent	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:14989262G>T	uc001mlt.1	-	4	441	c.366C>A	c.(364-366)CGC>CGA	p.R122R	CALCA_uc001mlu.1_RNA	NM_001033953	NP_001029125	P06881	CALCA_HUMAN	calcitonin isoform CGRP preproprotein	122					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)	1					Phentolamine(DB00692)	GGTCCCTGCGGCGCCTGCCAA	0.537												
PLEKHA7	144100	broad.mit.edu	37	11	16838609	16838609	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:16838609C>T	uc001mmo.2	-	11	1619	c.1604G>A	c.(1603-1605)GGC>GAC	p.G535D	PLEKHA7_uc010rcu.1_Missense_Mutation_p.G535D|PLEKHA7_uc010rcv.1_Missense_Mutation_p.G109D|PLEKHA7_uc001mmn.2_Missense_Mutation_p.G243D	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	535					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						TGTGGGGCTGCCGTGCCGGAA	0.677												
NUCB2	4925	broad.mit.edu	37	11	17332466	17332466	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:17332466A>G	uc001mmw.2	+	7	823	c.578A>G	c.(577-579)AAA>AGA	p.K193R	NUCB2_uc001mms.1_Missense_Mutation_p.K194R|NUCB2_uc001mmt.1_Missense_Mutation_p.K193R|NUCB2_uc001mmv.1_Missense_Mutation_p.K193R|NUCB2_uc009ygz.2_Missense_Mutation_p.K193R	NM_005013	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2 precursor	193	By similarity.					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding				0						GAATATTTAAAAACATTGAAT	0.308												
ABCC8	6833	broad.mit.edu	37	11	17432160	17432160	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:17432160T>C	uc001mnc.2	-	22	2723	c.2597A>G	c.(2596-2598)CAC>CGC	p.H866R		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	866	ABC transporter 1.|Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGCATTAAGTGGTCACTCAG	0.572												
SAA4	6291	broad.mit.edu	37	11	18253958	18253958	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:18253958C>T	uc001mny.2	-	3	310	c.214G>A	c.(214-216)GCT>ACT	p.A72T		NM_006512	NP_006503	P35542	SAA4_HUMAN	serum amyloid A4, constitutive precursor	72					acute-phase response	high-density lipoprotein particle					0						AGTTTAGCAGCCCAGACACCC	0.498												
MRGPRX1	259249	broad.mit.edu	37	11	18955874	18955874	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:18955874C>T	uc001mpg.2	-	1	676	c.458G>A	c.(457-459)CGG>CAG	p.R153Q		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	153	Helical; Name=4; (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						CAGGATGCTCCGCAGCAGGGA	0.582												
NELL1	4745	broad.mit.edu	37	11	20691304	20691304	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:20691304G>C	uc001mqe.2	+	1	188	c.35G>C	c.(34-36)TGT>TCT	p.C12S	NELL1_uc001mqf.2_Missense_Mutation_p.C12S|NELL1_uc009yid.2_Missense_Mutation_p.C12S|NELL1_uc010rdo.1_Missense_Mutation_p.C12S|NELL1_uc010rdp.1_5'UTR	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	12					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GTGTGGTTCTGTGTGTGCACT	0.602												
KCNA4	3739	broad.mit.edu	37	11	30034022	30034022	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:30034022G>A	uc001msk.2	-	2	1356	c.204C>T	c.(202-204)CGC>CGT	p.R68R		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	68						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R68G(1)		ovary(2)|central_nervous_system(1)|pancreas(1)	4						TACAGGCCCCGCGTGACTGGT	0.657												
IMMP1L	196294	broad.mit.edu	37	11	31477838	31477838	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:31477838C>A	uc001msy.1	-	5	486	c.290G>T	c.(289-291)AGT>ATT	p.S97I	IMMP1L_uc001msz.1_Missense_Mutation_p.S97I|IMMP1L_uc009yjo.2_Missense_Mutation_p.S97I|IMMP1L_uc009yjp.2_RNA	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane	97					proteolysis	mitochondrial inner membrane	serine-type peptidase activity				0	Lung SC(675;0.225)					ATCTGATGGACTAGTGGTGAG	0.323												
TCP11L1	55346	broad.mit.edu	37	11	33090338	33090338	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:33090338G>T	uc001mud.2	+	9	1660	c.1260G>T	c.(1258-1260)AAG>AAT	p.K420N	TCP11L1_uc009yju.2_Missense_Mutation_p.K235N|TCP11L1_uc010rei.1_Missense_Mutation_p.K420N|TCP11L1_uc001mue.2_Missense_Mutation_p.K420N|TCP11L1_uc001muf.1_RNA	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	420											0						CCACGGACAAGGAGACCGTGC	0.617												
CSTF3	1479	broad.mit.edu	37	11	33106722	33106722	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:33106722C>T	uc001muh.2	-	21	2231	c.2065G>A	c.(2065-2067)GAG>AAG	p.E689K	TCP11L1_uc001muf.1_RNA	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	689					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						TCTGAATCCTCGTTGGGCCTT	0.527												
HIPK3	10114	broad.mit.edu	37	11	33370344	33370344	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:33370344C>A	uc001mul.1	+	13	2916	c.2646C>A	c.(2644-2646)TCC>TCA	p.S882S	HIPK3_uc001mum.1_Silent_p.S861S|HIPK3_uc009yjv.1_Silent_p.S861S	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	882	SUMO interaction motifs (SIM); required for nuclear localization and kinase activity (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity).|Interaction with AR (By similarity).				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						AAGAGACTTCCCAGAGACATT	0.463												
EXT2	2132	broad.mit.edu	37	11	44219525	44219525	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:44219525A>G	uc001mxz.2	+	9	1786	c.1452A>G	c.(1450-1452)AAA>AAG	p.K484K	EXT2_uc010rfo.1_Silent_p.K512K|EXT2_uc001mxy.2_Silent_p.K497K|EXT2_uc009ykt.2_Silent_p.K494K|EXT2_uc001mya.2_Silent_p.K517K	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	484	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			lung(2)|breast(2)|skin(1)	5						GTCTATCCAAACTACTTGTCG	0.478			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses			
TP53I11	9537	broad.mit.edu	37	11	44959882	44959882	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:44959882G>A	uc001myi.2	-	5	610	c.5C>T	c.(4-6)GCG>GTG	p.A2V	TP53I11_uc001myf.1_RNA|TP53I11_uc001myj.2_Missense_Mutation_p.A2V|TP53I11_uc001myk.2_Missense_Mutation_p.A2V|TP53I11_uc001myl.2_Missense_Mutation_p.A2V|TP53I11_uc001mym.2_5'UTR	NM_006034	NP_006025	O14683	P5I11_HUMAN	p53-induced protein	2	Cytoplasmic (Potential).				negative regulation of cell proliferation|response to stress	integral to membrane				ovary(1)	1						CTGCTTGGCCGCCATCTTCTC	0.667												
LRP4	4038	broad.mit.edu	37	11	46900582	46900582	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:46900582T>C	uc001ndn.3	-	22	3158	c.3012A>G	c.(3010-3012)ACA>ACG	p.T1004T		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1004	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		TAGCACATGGTGTAGACACTG	0.582												
DDB2	1643	broad.mit.edu	37	11	47256210	47256210	+	Missense_Mutation	SNP	T	T	C	rs139325563	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:47256210T>C	uc001neb.2	+	5	884	c.689T>C	c.(688-690)ATG>ACG	p.M230T	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.M166T|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron|DDB2_uc001neg.2_Missense_Mutation_p.M89T|DDB2_uc001neh.2_RNA	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	230					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						CTGCTGAACATGGACGGCAAA	0.572			Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
OR5F1	338674	broad.mit.edu	37	11	55761382	55761382	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:55761382C>T	uc010riv.1	-	1	720	c.720G>A	c.(718-720)ACG>ACA	p.T240T		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GAGAGGCACACGTGGAGAAAG	0.502												
OR1S1	219959	broad.mit.edu	37	11	57983027	57983027	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:57983027G>A	uc010rkc.1	+	1	811	c.811G>A	c.(811-813)GTG>ATG	p.V271M		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	271	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)				CATTGTAGGCGTGTACTTTTT	0.483												
OR5B12	390191	broad.mit.edu	37	11	58207416	58207416	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:58207416C>T	uc010rkh.1	-	1	209	c.209G>A	c.(208-210)GGT>GAT	p.G70D		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAGGAATAACCAAAGTCCAC	0.458												
MS4A6E	245802	broad.mit.edu	37	11	60105316	60105316	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:60105316C>T	uc001npd.2	+	2	264	c.250C>T	c.(250-252)CAG>TAG	p.Q84*		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member	84	Extracellular (Potential).					integral to membrane	receptor activity				0						TGCCTCATTGCAGTGTAAGTT	0.478												
TMEM132A	54972	broad.mit.edu	37	11	60701145	60701145	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:60701145G>A	uc001nqj.2	+	8	1681	c.1488G>A	c.(1486-1488)CCG>CCA	p.P496P	TMEM132A_uc001nqi.2_Silent_p.P497P|TMEM132A_uc001nqk.2_Silent_p.P509P|TMEM132A_uc001nql.1_3'UTR|TMEM132A_uc001nqm.2_5'Flank	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	496	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						CCCTGCTACCGCTGCGTATCG	0.721												
SYT7	9066	broad.mit.edu	37	11	61295633	61295633	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:61295633C>T	uc001nrv.2	-	5	382	c.376G>A	c.(376-378)GAG>AAG	p.E126K	SYT7_uc009ynr.2_Missense_Mutation_p.E201K	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	126	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						TCGTGGGCCTCATCCTCCTCG	0.647												
FADS1	3992	broad.mit.edu	37	11	61584071	61584071	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:61584071C>A	uc010rlm.1	-	1	459	c.331G>T	c.(331-333)GGG>TGG	p.G111W	FADS2_uc001nsj.2_Intron|FADS2_uc010rlo.1_Missense_Mutation_p.P6H|FADS1_uc010rln.1_5'Flank|MIR1908_hsa-mir-1908|MI0008329_5'Flank	NM_013402	NP_037534	O60427	FADS1_HUMAN	fatty acid desaturase 1	54	Cytoplasmic (Potential).|Cytochrome b5 heme-binding.				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)	1					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CGGGAGCCCCCTGGATGCCGG	0.692												
LRRN4CL	221091	broad.mit.edu	37	11	62455497	62455497	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:62455497T>G	uc001nun.2	-	2	791	c.484A>C	c.(484-486)AGC>CGC	p.S162R		NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like precursor	162	Fibronectin type-III.|Extracellular (Potential).					integral to membrane					0						GGCACGCGGCTTGCCCCGGCC	0.697												
TAF6L	10629	broad.mit.edu	37	11	62545464	62545464	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:62545464C>T	uc001nvc.2	+	4	350	c.249C>T	c.(247-249)TAC>TAT	p.Y83Y	TAF6L_uc010rmg.1_Silent_p.Y83Y|TAF6L_uc009yof.2_Silent_p.Y83Y	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	83					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						TGTGTGGTTACGGATCACAGG	0.602												
SLC22A11	55867	broad.mit.edu	37	11	64323838	64323838	+	Missense_Mutation	SNP	G	G	A	rs150061096		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:64323838G>A	uc001oai.2	+	1	741	c.367G>A	c.(367-369)GTC>ATC	p.V123I	SLC22A11_uc001oah.1_Missense_Mutation_p.V123I|SLC22A11_uc001oaj.2_Missense_Mutation_p.V123I|SLC22A11_uc009ypq.2_Missense_Mutation_p.V123I	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	123	Extracellular (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)	TGACCGCAGCGTCTTCACCTC	0.632												
ATG2A	23130	broad.mit.edu	37	11	64674254	64674254	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:64674254C>T	uc001obx.2	-	20	2981	c.2866G>A	c.(2866-2868)GGG>AGG	p.G956R		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	956							protein binding			ovary(1)|central_nervous_system(1)	2						ACCAGCTCCCCGTGCACAGCC	0.617												
NAALADL1	10004	broad.mit.edu	37	11	64812884	64812884	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:64812884C>T	uc001ocn.2	-	18	2098	c.2082G>A	c.(2080-2082)CCG>CCA	p.P694P	NAALADL1_uc010rnw.1_Silent_p.P170P	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic	694	Extracellular (Potential).				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity				0						TGGATAGGCCCGGGAATGTGA	0.597												
FRMD8	83786	broad.mit.edu	37	11	65161804	65161804	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:65161804C>T	uc001odu.3	+	6	681	c.489C>T	c.(487-489)TGC>TGT	p.C163C	FRMD8_uc009yqj.2_Silent_p.C107C|FRMD8_uc010rof.1_Silent_p.C129C	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	163	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2						GGTACCCGTGCGACGTGGAGG	0.706												
SIPA1	6494	broad.mit.edu	37	11	65409844	65409844	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:65409844C>T	uc001ofb.2	+	3	970	c.803C>T	c.(802-804)ACG>ATG	p.T268M	SIPA1_uc010rom.1_Missense_Mutation_p.T268M|SIPA1_uc001ofd.2_Missense_Mutation_p.T268M	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	268					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						GTGCGGACCACGCAGGTGGGC	0.682												
FIBP	9158	broad.mit.edu	37	11	65653100	65653100	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:65653100G>A	uc001ogd.2	-	5	668	c.547C>T	c.(547-549)CGC>TGC	p.R183C	FIBP_uc009yqu.2_Missense_Mutation_p.R180C|FIBP_uc001oge.2_Missense_Mutation_p.R183C	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	183					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		GTCTCAAAGCGGTTGTTAGCA	0.522											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TSGA10IP	254187	broad.mit.edu	37	11	65714358	65714358	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:65714358T>C	uc001ogk.1	+	4	187	c.155T>C	c.(154-156)CTG>CCG	p.L52P	TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	52											0						CAGGGCTGCCTGGGGAGTGGT	0.622												
TSGA10IP	254187	broad.mit.edu	37	11	65715209	65715209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:65715209C>T	uc001ogk.1	+	5	945	c.913C>T	c.(913-915)CGA>TGA	p.R305*	TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	305											0						CCTCCGAAGGCGACAATGGAG	0.607												
SF3B2	10992	broad.mit.edu	37	11	65822776	65822776	+	Missense_Mutation	SNP	G	G	A	rs146650893		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:65822776G>A	uc001ogy.1	+	4	528	c.488G>A	c.(487-489)CGT>CAT	p.R163H	SF3B2_uc001ogx.1_Missense_Mutation_p.R163H	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	163	Potential.				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						CAGGAGGAGCGTGCCAAGCAG	0.622												
RBM4B	83759	broad.mit.edu	37	11	66436260	66436260	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:66436260T>C	uc001oja.2	-	2	1584	c.915A>G	c.(913-915)CCA>CCG	p.P305P	RBM4B_uc001ojb.2_Silent_p.P305P	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	305	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						CACGACGCAGTGGGCTCCTGT	0.572												
PC	5091	broad.mit.edu	37	11	66633741	66633741	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:66633741G>A	uc001ojn.1	-	9	1151	c.1102C>T	c.(1102-1104)CGC>TGC	p.R368C	PC_uc001ojo.1_Missense_Mutation_p.R368C|PC_uc001ojp.1_Missense_Mutation_p.R368C	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	368	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCGTTGATGCGGATGTTCTCC	0.682												
CABP4	57010	broad.mit.edu	37	11	67222963	67222963	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:67222963G>A	uc001olo.2	+	1	146	c.69G>A	c.(67-69)GCG>GCA	p.A23A	GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	23					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGCCCCCTGCGGGGGTTGTGA	0.632												
CABP2	51475	broad.mit.edu	37	11	67287369	67287369	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:67287369G>A	uc001omc.1	-	6	634	c.532C>T	c.(532-534)CGG>TGG	p.R178W	CABP2_uc001omd.1_Missense_Mutation_p.R121W|CABP2_uc001ome.1_Missense_Mutation_p.R184W	NM_016366	NP_057450	Q9NPB3	CABP2_HUMAN	calcium binding protein 2 isoform 1	178	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			skin(1)	1						AGGGCCGCCCGGAGCTCGCCC	0.672												
C11orf24	53838	broad.mit.edu	37	11	68029129	68029129	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:68029129G>A	uc001onr.3	-	4	1776	c.1334C>T	c.(1333-1335)GCG>GTG	p.A445V	C11orf24_uc001ons.2_3'UTR	NM_022338	NP_071733	Q96F05	CK024_HUMAN	hypothetical protein LOC53838 precursor	445	Cytoplasmic (Potential).					integral to membrane					0						TTCTGAGTCCGCATACATCCC	0.527												
SHANK2	22941	broad.mit.edu	37	11	70331881	70331881	+	Missense_Mutation	SNP	G	G	A	rs146717159		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:70331881G>A	uc001oqc.2	-	21	4595	c.4517C>T	c.(4516-4518)ACG>ATG	p.T1506M	SHANK2_uc010rqn.1_Missense_Mutation_p.T918M|SHANK2_uc001opz.2_Missense_Mutation_p.T911M|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1127					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGTGCTGGTCGTCTCGAGGTG	0.587												
KRTAP5-10	387273	broad.mit.edu	37	11	71276883	71276883	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:71276883T>C	uc001oqt.1	+	1	275	c.250T>C	c.(250-252)TGT>CGT	p.C84R		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	84	7 X 4 AA repeats of C-C-X-P.					keratin filament				skin(1)	1						CAAAGGGGGCTGTGGTTCCTG	0.687												
ARAP1	116985	broad.mit.edu	37	11	72423290	72423290	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:72423290C>T	uc001osu.2	-	7	1162	c.973G>A	c.(973-975)GTC>ATC	p.V325I	ARAP1_uc001osv.2_Missense_Mutation_p.V325I|ARAP1_uc001osr.2_Missense_Mutation_p.V85I|ARAP1_uc001oss.2_Missense_Mutation_p.V80I|ARAP1_uc009yth.2_Missense_Mutation_p.V80I|ARAP1_uc010rre.1_Missense_Mutation_p.V80I	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	325					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						ACTGGTGTGACGGGGGTGGAG	0.667												
P4HA3	283208	broad.mit.edu	37	11	73997331	73997331	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:73997331A>G	uc001ouz.2	-	6	918	c.875T>C	c.(874-876)ATA>ACA	p.I292T	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.I292T	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	292						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					CAGGTGGGGTATATTGGGCCT	0.547												
ARRB1	408	broad.mit.edu	37	11	74989778	74989778	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:74989778G>A	uc001owe.1	-	8	715	c.493C>T	c.(493-495)CGT>TGT	p.R165C	ARRB1_uc001owf.1_Missense_Mutation_p.R165C	NM_004041	NP_004032	P49407	ARRB1_HUMAN	arrestin beta 1 isoform A	165				R -> G (in Ref. 1; AAA35559/AAA35558).	G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(2)	2						ATGACCAGACGCACAGAATTC	0.587												
LRRC32	2615	broad.mit.edu	37	11	76371445	76371445	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:76371445G>T	uc001oxq.3	-	3	1435	c.1192C>A	c.(1192-1194)CTG>ATG	p.L398M	LRRC32_uc001oxr.3_Missense_Mutation_p.L398M|LRRC32_uc010rsf.1_Missense_Mutation_p.L398M	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	398	LRR 14.|Extracellular (Potential).					integral to plasma membrane					0						AGGTCCCGCAGGGCATTGCCC	0.647												
CAPN5	726	broad.mit.edu	37	11	76830130	76830130	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:76830130C>T	uc001oxx.2	+	9	1407	c.1222C>T	c.(1222-1224)CGG>TGG	p.R408W	CAPN5_uc009yup.2_Missense_Mutation_p.R448W|CAPN5_uc009yuq.2_Missense_Mutation_p.R444W|CAPN5_uc001oxy.2_Missense_Mutation_p.R448W|CAPN5_uc001oya.2_5'Flank	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	408	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						CATCCAGCAGCGGCCAAAGCG	0.463												
DLG2	1740	broad.mit.edu	37	11	83344258	83344258	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:83344258C>T	uc001paj.2	-	14	1924	c.1621G>A	c.(1621-1623)GTC>ATC	p.V541I	DLG2_uc001pai.2_Missense_Mutation_p.V438I|DLG2_uc010rsy.1_Missense_Mutation_p.V508I|DLG2_uc010rsz.1_Missense_Mutation_p.V541I|DLG2_uc010rta.1_Missense_Mutation_p.V541I|DLG2_uc001pak.2_Missense_Mutation_p.V646I|DLG2_uc010rtb.1_Missense_Mutation_p.V508I|DLG2_uc001pal.1_Missense_Mutation_p.V541I|DLG2_uc010rsw.1_Missense_Mutation_p.V23I|DLG2_uc010rsx.1_Missense_Mutation_p.V22I	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	541	SH3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCCTACCTGACGTAGAGGGAG	0.478												
MTNR1B	4544	broad.mit.edu	37	11	92702912	92702912	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:92702912C>T	uc001pdk.1	+	1	124	c.21C>T	c.(19-21)TTC>TTT	p.F7F		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	7	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	ACGGCTCCTTCGCCAACTGCT	0.756												
ANKRD49	54851	broad.mit.edu	37	11	94231382	94231382	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:94231382A>G	uc001pew.2	+	3	543	c.404A>G	c.(403-405)CAT>CGT	p.H135R	ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	fetal globin inducing factor	135	ANK 2.				positive regulation of transcription, DNA-dependent					central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCGATGTTCATGCAGTGACT	0.483												
ENDOD1	23052	broad.mit.edu	37	11	94862364	94862364	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:94862364G>A	uc001pfh.2	+	2	1199	c.1124G>A	c.(1123-1125)TGC>TAC	p.C375Y		NM_015036	NP_055851	O94919	ENDD1_HUMAN	endonuclease domain containing 1 precursor	375						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding				0		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				ATAGAAAGTTGCCTTTACCGC	0.458												
MAML2	84441	broad.mit.edu	37	11	95825410	95825410	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:95825410C>T	uc001pfw.1	-	2	3070	c.1785G>A	c.(1783-1785)CAG>CAA	p.Q595Q		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	595					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgttgct	0.189			T	MECT1|CRTC3	salivary gland mucoepidermoid							
DYNC2H1	79659	broad.mit.edu	37	11	103048395	103048395	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:103048395G>A	uc001pho.2	+	38	6129	c.5985G>A	c.(5983-5985)GCG>GCA	p.A1995A	DYNC2H1_uc001phn.1_Silent_p.A1995A|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1995	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAAGGGCTGCGCTTTGTAAAA	0.393												
CARD16	114769	broad.mit.edu	37	11	104912364	104912364	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:104912364G>A	uc001pip.1	-	3	384	c.357C>T	c.(355-357)GAC>GAT	p.D119D	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN	caspase-1 dominant-negative inhibitor pseudo-ICE	119					regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			skin(1)	1						TCCTTTGAGCGTCTTCTAGAA	0.438												
AASDHPPT	60496	broad.mit.edu	37	11	105967614	105967614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:105967614C>T	uc001pjc.1	+	6	1056	c.910C>T	c.(910-912)CGA>TGA	p.R304*	AASDHPPT_uc010rvn.1_RNA|AASDHPPT_uc001pjd.1_Nonsense_Mutation_p.R157*	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde	304					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding				0		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AATTCCAATACGAAATGGTAC	0.348												
SLN	6588	broad.mit.edu	37	11	107578563	107578563	+	Nonstop_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:107578563A>G	uc001pjp.2	-	2	268	c.94T>C	c.(94-96)TGA>CGA	p.*32R		NM_003063	NP_003054	O00631	SARCO_HUMAN	sarcolipin	32					calcium ion transport|regulation of calcium ion transport	integral to membrane|sarcoplasmic reticulum membrane	enzyme regulator activity				0		Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219)		ATGGCCTCTCAGTACTGATAG	0.502												
NCAM1	4684	broad.mit.edu	37	11	113078026	113078026	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:113078026C>T	uc009yyq.1	+	6	1012	c.318C>T	c.(316-318)ACC>ACT	p.T106T	NCAM1_uc001pno.2_Silent_p.T106T	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	224	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGAATGCCACCGCCAACCTCG	0.527												
NNMT	4837	broad.mit.edu	37	11	114168764	114168764	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:114168764C>T	uc001por.1	+	4	510	c.246C>T	c.(244-246)GTC>GTT	p.V82V	NNMT_uc001pos.1_Silent_p.V82V	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	82					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	AGGAGATCGTCGTCACTGACT	0.532												
CEP164	22897	broad.mit.edu	37	11	117280388	117280388	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:117280388T>G	uc001prc.2	+	30	3950	c.3803T>G	c.(3802-3804)CTC>CGC	p.L1268R	CEP164_uc001prb.2_Missense_Mutation_p.L1263R|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.L693R	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1268					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGCCACTCCCTCCGGCAGATC	0.627												
CEP164	22897	broad.mit.edu	37	11	117280532	117280532	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:117280532G>A	uc001prc.2	+	30	4094	c.3947G>A	c.(3946-3948)GGC>GAC	p.G1316D	CEP164_uc001prb.2_Missense_Mutation_p.G1311D|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.G741D	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1316					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACCTACTATGGCTCCCTGGCC	0.672												
TMPRSS13	84000	broad.mit.edu	37	11	117789217	117789217	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:117789217A>G	uc001prs.1	-	2	451	c.358T>C	c.(358-360)TAC>CAC	p.Y120H	TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.Y120H	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	115	Cytoplasmic (Potential).				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			pancreas(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CTAACAAGGTACACTCTGGTT	0.617												
PHLDB1	23187	broad.mit.edu	37	11	118498395	118498395	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:118498395C>A	uc001ptr.1	+	7	1209	c.856C>A	c.(856-858)CCT>ACT	p.P286T	PHLDB1_uc010ryh.1_Missense_Mutation_p.P285T|PHLDB1_uc001pts.2_Missense_Mutation_p.P286T|PHLDB1_uc001ptt.2_Missense_Mutation_p.P286T|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.P86T|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	286											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCGCTGGTACCTGCCCGTTC	0.642												
UBASH3B	84959	broad.mit.edu	37	11	122650309	122650309	+	Silent	SNP	G	G	A	rs140669282	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:122650309G>A	uc001pyi.3	+	4	867	c.507G>A	c.(505-507)TCG>TCA	p.S169S		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	169						cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TCTATACGTCGTCCAACTTCA	0.572												
GRAMD1B	57476	broad.mit.edu	37	11	123484323	123484323	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:123484323G>A	uc001pyx.2	+	15	2084	c.1755G>A	c.(1753-1755)ACG>ACA	p.T585T	GRAMD1B_uc001pyw.2_Silent_p.T592T|GRAMD1B_uc010rzw.1_Silent_p.T545T|GRAMD1B_uc010rzx.1_Silent_p.T545T|GRAMD1B_uc001pyy.2_Silent_p.T276T	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	585						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CGGTCACCACGCCCACAGATG	0.612												
OR6X1	390260	broad.mit.edu	37	11	123624938	123624938	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:123624938G>A	uc010rzy.1	-	1	289	c.289C>T	c.(289-291)CTG>TTG	p.L97L		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	97	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGGCCTGCAGCAGGCAGCAG	0.498												
OR8D1	283159	broad.mit.edu	37	11	124180241	124180241	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:124180241C>T	uc010sag.1	-	1	422	c.422G>A	c.(421-423)TGC>TAC	p.C141Y		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TAGCAGTGAGCAGACCCATGA	0.493												
KIRREL3	84623	broad.mit.edu	37	11	126391268	126391268	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:126391268G>A	uc001qea.2	-	4	736	c.375C>T	c.(373-375)TAC>TAT	p.Y125Y	KIRREL3_uc001qeb.2_Silent_p.Y125Y|KIRREL3_uc001qec.1_Silent_p.Y125Y	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	125	Ig-like C2-type 1.|Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CCTGGCACTCGTACACCGCAT	0.632												
FLI1	2313	broad.mit.edu	37	11	128680622	128680622	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:128680622C>T	uc010sbu.1	+	9	1439	c.1098C>T	c.(1096-1098)GCC>GCT	p.A366A	FLI1_uc010sbt.1_Silent_p.A173A|FLI1_uc010sbv.1_Silent_p.A333A|FLI1_uc009zci.2_Silent_p.A300A	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	366					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		ACGGCATTGCCCAGGCTCTGC	0.493			T	EWSR1	Ewing sarcoma							
NFRKB	4798	broad.mit.edu	37	11	129743689	129743689	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:129743689G>A	uc001qfi.2	-	22	2702	c.2501C>T	c.(2500-2502)CCG>CTG	p.P834L	NFRKB_uc001qfg.2_Missense_Mutation_p.P859L|NFRKB_uc001qfh.2_Missense_Mutation_p.P857L|NFRKB_uc010sbw.1_Missense_Mutation_p.P844L|NFRKB_uc009zcr.2_Missense_Mutation_p.P120L	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	834					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCGGATCTGCGGTCCTGCTGG	0.617												
PRDM10	56980	broad.mit.edu	37	11	129814773	129814773	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:129814773C>A	uc001qfm.2	-	6	887	c.655G>T	c.(655-657)GGC>TGC	p.G219C	PRDM10_uc001qfj.2_Missense_Mutation_p.G133C|PRDM10_uc001qfk.2_Missense_Mutation_p.G133C|PRDM10_uc001qfl.2_Missense_Mutation_p.G133C|PRDM10_uc010sbx.1_Missense_Mutation_p.G133C|PRDM10_uc001qfn.2_Missense_Mutation_p.G219C|PRDM10_uc009zct.1_Missense_Mutation_p.G251C	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	219	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AACACCCCGCCCAGAAACCTG	0.662												
APLP2	334	broad.mit.edu	37	11	129999046	129999046	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:129999046G>A	uc010sby.1	+	10	1557	c.1400G>A	c.(1399-1401)CGC>CAC	p.R467H	APLP2_uc001qfp.2_Missense_Mutation_p.R467H|APLP2_uc001qfq.2_Missense_Mutation_p.R411H|APLP2_uc010sbz.1_Missense_Mutation_p.R255H|APLP2_uc001qfr.2_Missense_Mutation_p.R233H|APLP2_uc001qfs.2_Missense_Mutation_p.R238H|APLP2_uc001qfv.2_Missense_Mutation_p.R358H	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	467	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CTGAATGACCGCCGTCGGATG	0.582												
ADAMTS15	170689	broad.mit.edu	37	11	130319789	130319789	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:130319789C>T	uc010scd.1	+	1	921	c.921C>T	c.(919-921)CCC>CCT	p.P307P		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	307	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACAAGCACCCCGAGTACTGGG	0.582											OREG0021518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NTM	50863	broad.mit.edu	37	11	132184562	132184562	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:132184562A>G	uc001qgp.2	+	6	1563	c.899A>G	c.(898-900)AAG>AGG	p.K300R	NTM_uc001qgm.2_Missense_Mutation_p.K300R|NTM_uc010sch.1_Missense_Mutation_p.K291R|NTM_uc010sci.1_Missense_Mutation_p.K300R|NTM_uc010scj.1_Missense_Mutation_p.K259R|NTM_uc001qgo.2_Missense_Mutation_p.K300R|NTM_uc001qgq.2_Missense_Mutation_p.K300R|NTM_uc001qgr.2_Missense_Mutation_p.K82R	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	300	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						GCCTCCAACAAGCTGGGCCAC	0.517												
IQSEC3	440073	broad.mit.edu	37	12	275010	275010	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:275010G>T	uc001qhw.1	+	8	2022	c.2016G>T	c.(2014-2016)AAG>AAT	p.K672N	IQSEC3_uc001qhu.1_Missense_Mutation_p.K672N	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	975	Potential.|PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGGACCTGAAGGAGTCCATTG	0.602												
C12orf5	57103	broad.mit.edu	37	12	4461843	4461843	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:4461843A>G	uc001qmp.2	+	6	878	c.799A>G	c.(799-801)ACT>GCT	p.T267A		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	267						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			AAATGGACTGACTGAAACTCG	0.393												
KCNA6	3742	broad.mit.edu	37	12	4920562	4920562	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:4920562T>C	uc001qng.2	+	1	2221	c.1355T>C	c.(1354-1356)CTG>CCG	p.L452P		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	452	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						ACCATTGCCCTGCCTGTGCCC	0.592										HNSCC(72;0.22)		
CHD4	1108	broad.mit.edu	37	12	6688047	6688047	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:6688047G>A	uc001qpo.2	-	34	5110	c.4946C>T	c.(4945-4947)GCA>GTA	p.A1649V	CHD4_uc001qpn.2_Missense_Mutation_p.A1642V|CHD4_uc001qpp.2_Missense_Mutation_p.A1674V|uc001qpq.1_Intron	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1649	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAGATCTATTGCTGACTTTTC	0.428												
ZNF384	171017	broad.mit.edu	37	12	6777196	6777196	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:6777196A>G	uc010sfh.1	-	11	1626	c.1418T>C	c.(1417-1419)GTG>GCG	p.V473A	ZNF384_uc001qpz.2_Missense_Mutation_p.V412A|ZNF384_uc001qqa.2_Missense_Mutation_p.V412A|ZNF384_uc001qqb.2_Missense_Mutation_p.V396A|ZNF384_uc001qqc.2_Missense_Mutation_p.V412A|ZNF384_uc001qqd.2_Missense_Mutation_p.V357A|ZNF384_uc001qqe.2_Missense_Mutation_p.V396A	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	473	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						ggcctgggccactgctgccgc	0.174			T	EWSR1|TAF15 	ALL							
USP5	8078	broad.mit.edu	37	12	6973052	6973052	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:6973052C>T	uc001qri.3	+	16	2072	c.2013C>T	c.(2011-2013)GAC>GAT	p.D671D	USP5_uc001qrh.3_Silent_p.D648D	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	671	UBA 1.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						TCCCTATGGACGCCTGCCGCA	0.582												
M6PR	4074	broad.mit.edu	37	12	9096397	9096397	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:9096397C>T	uc001qvf.2	-	4	623	c.453G>A	c.(451-453)GCG>GCA	p.A151A		NM_002355	NP_002346	P20645	MPRD_HUMAN	cation-dependent mannose-6-phosphate receptor	151	Lumenal (Potential).				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity				0		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		GGTGCCTCACCGCTAGGGTGT	0.532												
TAS2R14	50840	broad.mit.edu	37	12	11091669	11091669	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:11091669C>A	uc010shi.1	-	1	138	c.138G>T	c.(136-138)CGG>CGT	p.R46R	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	46	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity				0						CAGTGAGGATCCGATCAACCG	0.398												
LRP6	4040	broad.mit.edu	37	12	12334328	12334328	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:12334328C>T	uc001rah.3	-	6	1164	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R341H	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	341	Extracellular (Potential).|Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.R341H(1)		lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				CAAAGAAATGCGTCTCAAGTC	0.403												
GRIN2B	2904	broad.mit.edu	37	12	13720103	13720103	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:13720103C>A	uc001rbt.2	-	12	2633	c.2454G>T	c.(2452-2454)ATG>ATT	p.M818I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	818	Helical; (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGACCCCTGCCATGTTGTCAA	0.512												
BCAT1	586	broad.mit.edu	37	12	25047327	25047327	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:25047327G>A	uc001rgd.3	-	3	603	c.161C>T	c.(160-162)ACG>ATG	p.T54M	BCAT1_uc001rgc.2_Missense_Mutation_p.T53M|BCAT1_uc010six.1_Missense_Mutation_p.T66M|BCAT1_uc010siy.1_Missense_Mutation_p.T54M|BCAT1_uc001rge.3_Missense_Mutation_p.T30M	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	54					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CATATGATCCGTGAACACAGT	0.453												
TMTC1	83857	broad.mit.edu	37	12	29659903	29659903	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:29659903G>A	uc001rjb.2	-	18	2675	c.2201C>T	c.(2200-2202)GCA>GTA	p.A734V	TMTC1_uc001riz.2_Missense_Mutation_p.A491V|TMTC1_uc001rja.2_Missense_Mutation_p.A578V|TMTC1_uc001riy.2_Missense_Mutation_p.A187V	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	842	TPR 10.					integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ATAAGCTCTTGCAGACACATA	0.428												
IPO8	10526	broad.mit.edu	37	12	30802093	30802093	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:30802093C>T	uc001rjd.2	-	20	2416	c.2246G>A	c.(2245-2247)TGC>TAC	p.C749Y	IPO8_uc001rje.1_Missense_Mutation_p.C238Y|IPO8_uc010sjt.1_Missense_Mutation_p.C544Y	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	749					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTTCCTTTGCACTGAAGAAT	0.393												
SYT10	341359	broad.mit.edu	37	12	33592379	33592379	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:33592379C>T	uc001rll.1	-	1	376	c.79G>A	c.(79-81)GGC>AGC	p.G27S	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	27	Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCCACCTGGCCGGCGAAGCAC	0.607												
MLL2	8085	broad.mit.edu	37	12	49425085	49425085	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:49425085C>T	uc001rta.3	-	39	13403	c.13403G>A	c.(13402-13404)CGG>CAG	p.R4468Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4468					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						ATTCTTTGCCCGGAGTAGCTT	0.617			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
TFCP2	7024	broad.mit.edu	37	12	51502902	51502902	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:51502902A>G	uc001rxw.2	-	6	1176	c.717_splice	c.e6+1	p.K239_splice	TFCP2_uc001rxv.1_Splice_Site_p.K239_splice|TFCP2_uc009zlx.1_Intron|TFCP2_uc001rxx.2_Splice_Site_p.K239_splice|TFCP2_uc009zly.1_Splice_Site_p.K141_splice	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2						regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCCCAGGAATACCTTGAAAAC	0.393												
CELA1	1990	broad.mit.edu	37	12	51723491	51723491	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:51723491C>T	uc001ryi.1	-	7	777	c.736G>A	c.(736-738)GCT>ACT	p.A246T		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	246	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			breast(1)	1						GAGATGTAAGCAGAGACCTGG	0.507												
SCN8A	6334	broad.mit.edu	37	12	52174462	52174462	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:52174462C>T	uc001ryw.2	+	21	4027	c.3849C>T	c.(3847-3849)GCC>GCT	p.A1283A	SCN8A_uc010snl.1_Intron|SCN8A_uc001rza.1_Intron	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1283	III.|Helical; Name=S3 of repeat III; (Potential).				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	tagctaatgccctgggCTACT	0.219												
NR4A1	3164	broad.mit.edu	37	12	52451148	52451148	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:52451148C>T	uc001rzs.2	+	7	1688	c.1374C>T	c.(1372-1374)GGC>GGT	p.G458G	NR4A1_uc010sno.1_Silent_p.G471G|NR4A1_uc001rzt.2_Silent_p.G458G|NR4A1_uc009zmc.2_Missense_Mutation_p.A72V	NM_002135	NP_002126	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	458	Ligand-binding (Potential).				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTAAGCCAGGCGAGGGCAAGC	0.607												
KRT74	121391	broad.mit.edu	37	12	52967361	52967361	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:52967361G>A	uc001sap.1	-	1	249	c.201C>T	c.(199-201)GGC>GGT	p.G67G		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	67	Head.|Gly-rich.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		CAGCCCGAACGCCGCCACCAG	0.632												
KRT72	140807	broad.mit.edu	37	12	52981502	52981502	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:52981502C>T	uc001sar.2	-	7	1309	c.1223G>A	c.(1222-1224)CGT>CAT	p.R408H	KRT72_uc001saq.2_Missense_Mutation_p.R408H|KRT72_uc010sns.1_Missense_Mutation_p.R366H|KRT72_uc010snt.1_Missense_Mutation_p.R220H	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	408	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		CTGGTACTCACGCAGCATCCG	0.662												
KRT4	3851	broad.mit.edu	37	12	53207880	53207880	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:53207880A>G	uc001saz.2	-	1	456	c.185T>C	c.(184-186)GTC>GCC	p.V62A		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	Error:Variant_position_missing_in_B4DRS2_after_alignment						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						CAGAGAAGTGACAGGGCCCAG	0.602												
ITGB7	3695	broad.mit.edu	37	12	53587625	53587625	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:53587625G>T	uc009zmv.2	-	10	1440	c.1369C>A	c.(1369-1371)CTC>ATC	p.L457I	ITGB7_uc001scc.2_Missense_Mutation_p.L457I|ITGB7_uc010snz.1_Intron	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor	457	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						AGGGCCCGGAGCCTCAGGAGA	0.577												
SP7	121340	broad.mit.edu	37	12	53722416	53722416	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:53722416G>A	uc001sct.2	-	2	917	c.810C>T	c.(808-810)TGC>TGT	p.C270C	SP7_uc001scu.2_Silent_p.C252C|SP7_uc001scv.2_Silent_p.C270C	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TAGGGCAGTCGCAGGAGGAGC	0.667												
SP1	6667	broad.mit.edu	37	12	53776184	53776184	+	Silent	SNP	C	C	T	rs146930500		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:53776184C>T	uc001scw.2	+	3	550	c.453C>T	c.(451-453)GCC>GCT	p.A151A	SP1_uc010sog.1_Silent_p.A144A	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	151	Transactivation domain A (Gln-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)		TTGTGGCTGCCGCTCCCAACT	0.507												
ITGA5	3678	broad.mit.edu	37	12	54799076	54799076	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:54799076C>T	uc001sga.2	-	12	1167	c.1099G>A	c.(1099-1101)GTC>ATC	p.V367I	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	367	Extracellular (Potential).|FG-GAP 5.				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2						TGCAGGTAGACGTAGACCCTG	0.652												
NCKAP1L	3071	broad.mit.edu	37	12	54893239	54893239	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:54893239G>A	uc001sgc.3	+	2	282	c.203G>A	c.(202-204)CGA>CAA	p.R68Q	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.R18Q	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	68					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						ATAGATGTCCGAAACAGCACG	0.413												
NCKAP1L	3071	broad.mit.edu	37	12	54920358	54920358	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:54920358G>A	uc001sgc.3	+	21	2282	c.2203G>A	c.(2203-2205)GTA>ATA	p.V735I	NCKAP1L_uc010sox.1_Missense_Mutation_p.V277I|NCKAP1L_uc010soy.1_Missense_Mutation_p.V685I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	735					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						CCAGGAGATCGTACGGCCTTC	0.448												
ITGA7	3679	broad.mit.edu	37	12	56081805	56081805	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56081805C>T	uc001shh.2	-	24	3365	c.3145G>A	c.(3145-3147)GTA>ATA	p.V1049I	ITGA7_uc001shg.2_Missense_Mutation_p.V1045I|ITGA7_uc010sps.1_Missense_Mutation_p.V952I|ITGA7_uc001shf.2_Missense_Mutation_p.V23I|ITGA7_uc009znw.2_Missense_Mutation_p.V292I|ITGA7_uc009znx.2_Missense_Mutation_p.V926I	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	1089	Helical; (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						CCAGCCAGTACAGCCAGGAGG	0.617												
ITGA7	3679	broad.mit.edu	37	12	56092588	56092588	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56092588C>T	uc001shh.2	-	6	1136	c.916G>A	c.(916-918)GCC>ACC	p.A306T	ITGA7_uc001shg.2_Missense_Mutation_p.A302T|ITGA7_uc010sps.1_Missense_Mutation_p.A209T|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Missense_Mutation_p.A189T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	346	FG-GAP 4.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						AGGCGACTGGCGCTGTCCTTG	0.632												
SILV	6490	broad.mit.edu	37	12	56348059	56348059	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56348059C>T	uc001sip.2	-	11	1956	c.1925G>A	c.(1924-1926)CGC>CAC	p.R642H	SILV_uc001siq.2_Missense_Mutation_p.R649H|SILV_uc010spx.1_Missense_Mutation_p.R556H|SILV_uc001sir.2_Missense_Mutation_p.R642H	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	642	Cytoplasmic (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						GCAGAAGATGCGGGGTAGACG	0.527												
ESYT1	23344	broad.mit.edu	37	12	56531349	56531349	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56531349C>T	uc001sjq.2	+	18	2055	c.2005C>T	c.(2005-2007)CTG>TTG	p.L669L	ESYT1_uc001sjr.2_Silent_p.L679L	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	669	C2 3.					integral to membrane				ovary(4)|skin(1)	5						CTTGGGGGGACTGGTGAAGGG	0.542												
RNF41	10193	broad.mit.edu	37	12	56600349	56600349	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56600349C>T	uc001skf.1	-	7	1205	c.836G>A	c.(835-837)CGC>CAC	p.R279H	RNF41_uc001ske.1_Missense_Mutation_p.R208H|RNF41_uc001skg.1_Missense_Mutation_p.R279H|RNF41_uc010sqg.1_Missense_Mutation_p.R214H|RNF41_uc010sqh.1_Missense_Mutation_p.R208H	NM_005785	NP_005776	Q9H4P4	RNF41_HUMAN	ring finger protein 41 isoform 1	279					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1						GCCAGGGATGCGCTTGGCCAC	0.552											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CNPY2	10330	broad.mit.edu	37	12	56704996	56704996	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56704996G>A	uc001sku.1	-	4	948	c.407C>T	c.(406-408)GCG>GTG	p.A136V		NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	canopy 2 homolog precursor	136	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding				0						ATAGCTCACCGCAAACTTGAG	0.483												
ATP5B	506	broad.mit.edu	37	12	57036479	57036479	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:57036479C>T	uc001slr.2	-	6	1034	c.929G>A	c.(928-930)CGC>CAC	p.R310H		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	310					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						CTGGGTGAAGCGAAAGATGTT	0.507												
STAC3	246329	broad.mit.edu	37	12	57640669	57640669	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:57640669T>C	uc001snp.2	-	6	716	c.521A>G	c.(520-522)AAT>AGT	p.N174S	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Missense_Mutation_p.N135S|STAC3_uc010srm.1_5'UTR	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	174					intracellular signal transduction		identical protein binding|metal ion binding			ovary(2)|skin(1)	3						CACAGGATCATTGCGATTGGC	0.493												
LRIG3	121227	broad.mit.edu	37	12	59274454	59274454	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:59274454C>A	uc001sqr.2	-	13	1956	c.1710G>T	c.(1708-1710)GAG>GAT	p.E570D	LRIG3_uc009zqh.2_Missense_Mutation_p.E510D|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	570	Ig-like C2-type 1.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			CAAATTCCACCTCGCGCAGCC	0.468												
MON2	23041	broad.mit.edu	37	12	62946683	62946683	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:62946683T>C	uc001sre.2	+	24	3330	c.2939T>C	c.(2938-2940)TTC>TCC	p.F980S	MON2_uc009zqj.2_Missense_Mutation_p.F980S|MON2_uc010ssl.1_Missense_Mutation_p.F908S|MON2_uc010ssm.1_Missense_Mutation_p.F957S|MON2_uc010ssn.1_Missense_Mutation_p.F980S|MON2_uc001srf.2_Missense_Mutation_p.F743S	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	981					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)		GATTATTTTTTCCAAAGAGGG	0.338												
DPY19L2	283417	broad.mit.edu	37	12	63954355	63954355	+	Silent	SNP	G	G	A	rs1064021	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:63954355G>A	uc001srp.1	-	22	2395	c.2214C>T	c.(2212-2214)GAC>GAT	p.D738D	DPY19L2_uc010sso.1_Silent_p.D185D	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	738					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAGGCCTGGCGTCTTCGAGCA	0.453												
RASSF3	283349	broad.mit.edu	37	12	65085254	65085254	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:65085254C>T	uc001ssd.2	+	4	582	c.462C>T	c.(460-462)TAC>TAT	p.Y154Y	RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Silent_p.Y84Y	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family	154	Ras-associating.				signal transduction	cytoplasm|microtubule	identical protein binding				0			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		ACCCAGTCTACGCCTGCAAGC	0.488												
HELB	92797	broad.mit.edu	37	12	66696538	66696538	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:66696538T>G	uc001sti.2	+	1	183	c.155T>G	c.(154-156)GTA>GGA	p.V52G	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	52					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGTGGGGGCGTAAAGGCTGGC	0.632												
RAP1B	5908	broad.mit.edu	37	12	69044223	69044223	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:69044223C>A	uc001sub.2	+	3	264	c.101C>A	c.(100-102)CCT>CAT	p.P34H	RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.P34H|RAP1B_uc010stf.1_Missense_Mutation_p.P34H|RAP1B_uc010stg.1_Intron|RAP1B_uc010sth.1_Intron|RAP1B_uc010sti.1_Missense_Mutation_p.P34H	NM_001089704	NP_001083173	P61224	RAP1B_HUMAN	SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;	34	Effector region (Probable).				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		AAATACGATCCTACGATAGAA	0.239												
FRS2	10818	broad.mit.edu	37	12	69968607	69968607	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:69968607C>T	uc001suy.2	+	10	1909	c.1399C>T	c.(1399-1401)CGC>TGC	p.R467C	FRS2_uc001suz.2_Missense_Mutation_p.R467C|FRS2_uc009zrj.2_Missense_Mutation_p.R467C|FRS2_uc009zrk.2_Missense_Mutation_p.R467C	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	467					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCCTACCAGGCGCACAGAGCT	0.483												
PTPRR	5801	broad.mit.edu	37	12	71095090	71095090	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:71095090C>T	uc001swi.1	-	7	1437	c.1021G>A	c.(1021-1023)GTA>ATA	p.V341I	PTPRR_uc001swh.1_Missense_Mutation_p.V96I|PTPRR_uc009zrs.2_Missense_Mutation_p.V190I|PTPRR_uc010stq.1_Missense_Mutation_p.V229I|PTPRR_uc010str.1_Missense_Mutation_p.V190I	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	341	Cytoplasmic (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTAAGAGATACGTTGGACCCT	0.408												
KITLG	4254	broad.mit.edu	37	12	88912498	88912498	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:88912498C>T	uc001tav.2	-	4	522	c.339G>A	c.(337-339)GAG>GAA	p.E113E	KITLG_uc009zsn.2_Silent_p.E41E|KITLG_uc001taw.2_Silent_p.E113E|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	113	Extracellular (Potential).				cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			ovary(1)	1						CTTTCACGCACTCCACAAGGT	0.373									Testicular_Cancer_Familial_Clustering_of			
C12orf12	196477	broad.mit.edu	37	12	91348466	91348466	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:91348466G>A	uc001tbj.2	-	1	488	c.54C>T	c.(52-54)GGC>GGT	p.G18G		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	18	Poly-Gly.									central_nervous_system(1)|pancreas(1)	2						agccgccgccgccaccgccgc	0.512												
LTA4H	4048	broad.mit.edu	37	12	96394809	96394809	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:96394809G>A	uc001ten.1	-	19	1862	c.1794C>T	c.(1792-1794)CCC>CCT	p.P598P	LTA4H_uc010suy.1_Silent_p.P560P|LTA4H_uc010suz.1_3'UTR	NM_000895	NP_000886	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	598					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)	1						TTGCAGTCACGGGATGCATGC	0.393												
ELK3	2004	broad.mit.edu	37	12	96640852	96640852	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:96640852G>A	uc001teo.1	+	3	621	c.342G>A	c.(340-342)GCG>GCA	p.A114A		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	114				A -> V (in Ref. 1; CAA85309).	negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	all_cancers(2;0.00173)					ACTGCAAGGCGTCTCCGGAGG	0.607												
SLC17A8	246213	broad.mit.edu	37	12	100806649	100806649	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:100806649G>A	uc010svi.1	+	10	1601	c.1288G>A	c.(1288-1290)GCT>ACT	p.A430T	SLC17A8_uc009ztx.2_Missense_Mutation_p.A380T	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	430	Helical; (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						TAGTGGCTTCGCTATTTCAGG	0.453												
ANO4	121601	broad.mit.edu	37	12	101381385	101381385	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:101381385C>T	uc010svm.1	+	8	1243	c.671C>T	c.(670-672)ACA>ATA	p.T224I	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.T189I|ANO4_uc001thx.2_Missense_Mutation_p.T224I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	224	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						GACAAGGAGACACTGCCAGAC	0.488										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UTP20	27340	broad.mit.edu	37	12	101685882	101685882	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:101685882A>G	uc001tia.1	+	10	1329	c.1173A>G	c.(1171-1173)AAA>AAG	p.K391K		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	391					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						CCATAGAAAAAGTAatttact	0.229												
UTP20	27340	broad.mit.edu	37	12	101764871	101764871	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:101764871C>T	uc001tia.1	+	51	6879	c.6723C>T	c.(6721-6723)ATC>ATT	p.I2241I		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2241					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						TCCCAGAAATCGATGAGGTCA	0.448												
GNPTAB	79158	broad.mit.edu	37	12	102158268	102158268	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:102158268G>A	uc001tit.2	-	13	2606	c.2427C>T	c.(2425-2427)GAC>GAT	p.D809D		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	809					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						TGGTCTCCAAGTCCAGGGGTG	0.463												
ACACB	32	broad.mit.edu	37	12	109694009	109694009	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:109694009C>A	uc001tob.2	+	45	6350	c.6231C>A	c.(6229-6231)CCC>CCA	p.P2077P	ACACB_uc001toc.2_Silent_p.P2077P|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.P743P	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2077	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TCATGGCACCCTGGGCGCAGA	0.602												
UBE3B	89910	broad.mit.edu	37	12	109972426	109972426	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:109972426C>T	uc001top.2	+	28	3649	c.3046C>T	c.(3046-3048)CGG>TGG	p.R1016W	UBE3B_uc001toq.2_Missense_Mutation_p.R1016W|UBE3B_uc001tos.2_Missense_Mutation_p.R443W|UBE3B_uc001tot.2_Missense_Mutation_p.R134W|UBE3B_uc010sxp.1_3'UTR	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1016	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						CAGCGTCCTCCGGGGCTTCTT	0.632												
IFT81	28981	broad.mit.edu	37	12	110581305	110581305	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:110581305A>G	uc001tqi.2	+	9	1030	c.900A>G	c.(898-900)TCA>TCG	p.S300S	IFT81_uc001tqh.2_Silent_p.S300S|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Silent_p.S300S	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	300					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						AAGTAGTTTCAGAGCCAGCTA	0.294												
ALDH2	217	broad.mit.edu	37	12	112229169	112229169	+	Silent	SNP	C	C	T	rs111277749		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:112229169C>T	uc001tst.2	+	7	1182	c.741C>T	c.(739-741)GCC>GCT	p.A247A	ALDH2_uc010syi.1_Silent_p.A200A|ALDH2_uc009zvy.2_Intron	NM_000690	NP_000681	P05091	ALDH2_HUMAN	mitochondrial aldehyde dehydrogenase 2	247				A -> P (in Ref. 13; AAA62825).	carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity			skin(2)|ovary(1)|central_nervous_system(1)	4					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CGGCTGGGGCCGCCATTGCCT	0.602			T	HMGA2	leiomyoma							
C12orf51	283450	broad.mit.edu	37	12	112681278	112681278	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:112681278G>A	uc009zwc.2	-	25	3589	c.3571C>T	c.(3571-3573)CGG>TGG	p.R1191W		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GTGTTTCCCCGCCGCCACCTT	0.592												
RASAL1	8437	broad.mit.edu	37	12	113542071	113542071	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:113542071G>A	uc001tum.1	-	18	2153	c.1860C>T	c.(1858-1860)CGC>CGT	p.R620R	RASAL1_uc010syp.1_Silent_p.R621R|RASAL1_uc001tul.2_Intron|RASAL1_uc001tun.1_Silent_p.R622R|RASAL1_uc010syq.1_Silent_p.R621R|RASAL1_uc001tuo.3_Silent_p.R621R	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	620	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						GCTCCACGGCGCGGATGTGAG	0.667												
TBX5	6910	broad.mit.edu	37	12	114793463	114793463	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:114793463C>T	uc001tvo.2	-	9	1926	c.1431G>A	c.(1429-1431)CAG>CAA	p.Q477Q	TBX5_uc001tvp.2_Silent_p.Q477Q|TBX5_uc001tvq.2_Silent_p.Q427Q	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	477					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			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGCCAGGGGACTGCAGGCCAG	0.622												
FBXO21	23014	broad.mit.edu	37	12	117593747	117593747	+	Silent	SNP	G	G	A	rs61999294	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:117593747G>A	uc001twk.2	-	11	1584	c.1545C>T	c.(1543-1545)GGC>GGT	p.G515G	FBXO21_uc001twj.2_Silent_p.G508G|FBXO21_uc009zwq.2_Silent_p.G448G|FBXO21_uc001twl.1_Silent_p.G128G	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	515					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CACAGTTATAGCCATACCTAG	0.587											OREG0022166	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GCN1L1	10985	broad.mit.edu	37	12	120576551	120576551	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:120576551G>T	uc001txo.2	-	46	6117	c.6104C>A	c.(6103-6105)ACC>AAC	p.T2035N		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2035	HEAT 17.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGCCGATGGTGGAATGCAG	0.552												
GCN1L1	10985	broad.mit.edu	37	12	120591163	120591163	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:120591163C>T	uc001txo.2	-	33	3929	c.3916G>A	c.(3916-3918)GCG>ACG	p.A1306T		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1306	HEAT 5.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATTGGGCGCGTTCTTCAGG	0.562												
KDM2B	84678	broad.mit.edu	37	12	121970820	121970820	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:121970820G>A	uc001uat.2	-	8	926	c.822C>T	c.(820-822)TAC>TAT	p.Y274Y	KDM2B_uc001uas.2_Silent_p.Y243Y|KDM2B_uc001uau.2_Silent_p.Y157Y|KDM2B_uc001uav.3_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	274	JmjC.				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						CCCACTCCTCGTACAGCGCCA	0.517												
DDX55	57696	broad.mit.edu	37	12	124094656	124094656	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:124094656G>T	uc001ufi.2	+	7	746	c.722G>T	c.(721-723)CGC>CTC	p.R241L	DDX55_uc001ufh.2_Missense_Mutation_p.R94L|DDX55_uc001ufj.1_Missense_Mutation_p.R94L|DDX55_uc001ufk.2_Missense_Mutation_p.R94L	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	241							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ACCCCCTCCCGCCTGGAAAAC	0.537												
DNAH10	196385	broad.mit.edu	37	12	124325980	124325980	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:124325980C>T	uc001uft.3	+	29	4919	c.4894C>T	c.(4894-4896)CGG>TGG	p.R1632W		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1632	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGATCTTGCGGGCTGAAGG	0.453												
NCOR2	9612	broad.mit.edu	37	12	124911328	124911328	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:124911328G>A	uc010tba.1	-	11	1285	c.1168C>T	c.(1168-1170)CGC>TGC	p.R390C	NCOR2_uc010tay.1_Missense_Mutation_p.R390C|NCOR2_uc010taz.1_Missense_Mutation_p.R390C|NCOR2_uc010tbb.1_Missense_Mutation_p.R390C|NCOR2_uc010tbc.1_Missense_Mutation_p.R389C|NCOR2_uc001ugj.1_Missense_Mutation_p.R390C|NCOR2_uc001ugk.1_Missense_Mutation_p.R390C	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	390					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCAGCTGGCGCATCTGCTTC	0.632												
FZD10	11211	broad.mit.edu	37	12	130648101	130648101	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:130648101C>T	uc001uii.2	+	1	1070	c.614C>T	c.(613-615)GCG>GTG	p.A205V	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	205	Extracellular (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)		GAGAAGAGCGCGTCGTGCGCG	0.622												
MMP17	4326	broad.mit.edu	37	12	132334499	132334499	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:132334499C>T	uc001ujc.1	+	9	1456	c.1357C>T	c.(1357-1359)CGC>TGC	p.R453C	MMP17_uc001ujd.1_Missense_Mutation_p.R369C	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	453	Hemopexin-like 3.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GCTGTACTGGCGCTACGATGA	0.652												
EP400	57634	broad.mit.edu	37	12	132445666	132445666	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:132445666G>T	uc001ujn.2	+	1	537	c.502G>T	c.(502-504)GGG>TGG	p.G168W	EP400_uc001ujl.2_Missense_Mutation_p.G168W|EP400_uc001ujm.2_Missense_Mutation_p.G168W|EP400_uc001ujj.1_Missense_Mutation_p.G168W|EP400_uc001ujk.2_Missense_Mutation_p.G168W	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	168					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGCCCTACAGGGGGCTTCGT	0.662												
PXMP2	5827	broad.mit.edu	37	12	133281219	133281219	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:133281219C>T	uc001ukt.2	+	5	599	c.534C>T	c.(532-534)TTC>TTT	p.F178F	PGAM5_uc010tbr.1_RNA	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	178	Helical; (Potential).					integral to membrane|peroxisomal membrane	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GGGTGCTCTTCGCCAACCTGG	0.592												
CHFR	55743	broad.mit.edu	37	12	133419637	133419637	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:133419637C>T	uc001ulf.2	-	17	1996	c.1912G>A	c.(1912-1914)GGC>AGC	p.G638S	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.G626S|CHFR_uc010tbs.1_Missense_Mutation_p.G637S|CHFR_uc001uld.2_Missense_Mutation_p.G597S|CHFR_uc010tbt.1_Missense_Mutation_p.G546S	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	638	PBZ-type.				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CAGTTACGGCCCCAGTAGCAG	0.557												
MPHOSPH8	54737	broad.mit.edu	37	13	20216317	20216317	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:20216317C>T	uc001umh.2	+	2	285	c.276C>T	c.(274-276)CCC>CCT	p.P92P	MPHOSPH8_uc001umf.1_Silent_p.P92P|MPHOSPH8_uc001umg.2_Silent_p.P92P	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	92	Chromo.				cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CCTGGGAGCCCGAGATTCACC	0.398												
SACS	26278	broad.mit.edu	37	13	23929463	23929463	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:23929463C>A	uc001uon.2	-	8	1877	c.1288G>T	c.(1288-1290)GAT>TAT	p.D430Y	SACS_uc001uoo.2_Missense_Mutation_p.D283Y|SACS_uc001uop.1_Missense_Mutation_p.D217Y|SACS_uc001uoq.1_Missense_Mutation_p.D283Y	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	430					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCTTCATCATCTCTGCTTGAT	0.458												
FAM123A	219287	broad.mit.edu	37	13	25745711	25745711	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:25745711C>A	uc001uqb.2	-	1	147	c.47G>T	c.(46-48)CGC>CTC	p.R16L	FAM123A_uc001uqa.2_Missense_Mutation_p.R16L|FAM123A_uc001uqc.2_Missense_Mutation_p.R16L	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	16	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGCTCCGCCGCGCTCGCTGAC	0.726												
ATP8A2	51761	broad.mit.edu	37	13	26133873	26133873	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:26133873T>C	uc001uqk.2	+	15	1509	c.1367T>C	c.(1366-1368)TTG>TCG	p.L456S	ATP8A2_uc010tdi.1_Missense_Mutation_p.L416S|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.L416S	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	416	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTCCCAGAATTGGCAAGAGAG	0.363												
POLR1D	51082	broad.mit.edu	37	13	28197233	28197233	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:28197233G>A	uc010tdm.1	+	3	1278	c.248G>A	c.(247-249)CGC>CAC	p.R83H	LNX2_uc001url.3_5'Flank|LNX2_uc001urm.1_5'Flank|POLR1D_uc010aam.2_Intron|POLR1D_uc001urq.2_Intron|POLR1D_uc001uro.2_Missense_Mutation_p.R83H|POLR1D_uc001urp.2_Intron	NM_015972	NP_057056	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 1	83					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		ATTAATTTACGCATTCAGACT	0.453												
PAN3	255967	broad.mit.edu	37	13	28834652	28834652	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:28834652C>T	uc001urz.2	+	7	887	c.879C>T	c.(877-879)AAC>AAT	p.N293N	PAN3_uc010tdo.1_Silent_p.N439N|PAN3_uc001ury.2_Silent_p.N127N|PAN3_uc001urx.2_Silent_p.N239N	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	439	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CGAAAGCAAACGCACCTTCCT	0.413												
USPL1	10208	broad.mit.edu	37	13	31232943	31232943	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:31232943C>T	uc001utc.2	+	9	3161	c.2729C>T	c.(2728-2730)CCG>CTG	p.P910L	USPL1_uc001utd.2_Missense_Mutation_p.P581L|USPL1_uc001ute.1_Missense_Mutation_p.P581L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	910					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			pancreas(2)|skin(1)	3		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ATGTCTTCCCCGCAAAGCAGA	0.408												
FRY	10129	broad.mit.edu	37	13	32653072	32653072	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:32653072C>A	uc001utx.2	+	2	668	c.172C>A	c.(172-174)CCA>ACA	p.P58T	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	58					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)		CAATGTGGACCCAGACAGTAA	0.512												
BRCA2	675	broad.mit.edu	37	13	32907096	32907096	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:32907096T>C	uc001uub.1	+	10	1708	c.1481T>C	c.(1480-1482)GTG>GCG	p.V494A	BRCA2_uc001uua.1_Missense_Mutation_p.V371A	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	494					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)		ACTTCTCCAGTGGCTTCTTCA	0.383			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)		
KL	9365	broad.mit.edu	37	13	33590920	33590920	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:33590920G>A	uc001uus.2	+	1	350	c.342G>A	c.(340-342)CCG>CCA	p.P114P	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	114	Glycosyl hydrolase-1 1.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGGGCGCCCCGTCGCCGCTGC	0.697												
NBEA	26960	broad.mit.edu	37	13	35733237	35733237	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:35733237A>T	uc001uvb.2	+	23	3135	c.2929A>T	c.(2929-2931)AAG>TAG	p.K977*	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	977						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAAAAAGGGAAAGAAAGGGAA	0.383												
NBEA	26960	broad.mit.edu	37	13	35734077	35734077	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:35734077G>A	uc001uvb.2	+	23	3975	c.3769G>A	c.(3769-3771)GCA>ACA	p.A1257T	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1257						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAATATTGATGCAGGAAGTAT	0.388												
DCLK1	9201	broad.mit.edu	37	13	36686023	36686023	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:36686023T>C	uc001uvf.2	-	3	939	c.706A>G	c.(706-708)ACG>GCG	p.T236A		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	236	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCATCCAACGTGTACAGGCGT	0.483												
RFXAP	5994	broad.mit.edu	37	13	37401883	37401883	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:37401883C>A	uc001uvu.1	+	3	968	c.812C>A	c.(811-813)TCA>TAA	p.S271*		NM_000538	NP_000529	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	271						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		CCAGGAACATCAATGTGAGGG	0.338												
COG6	57511	broad.mit.edu	37	13	40293455	40293455	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:40293455A>G	uc001uxh.2	+	14	1467	c.1367A>G	c.(1366-1368)CAC>CGC	p.H456R	COG6_uc001uxi.2_Missense_Mutation_p.H404R|COG6_uc010acb.2_Missense_Mutation_p.H456R	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	456					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TTAGCATCTCACGATTCTTCA	0.373												
KIAA0564	23078	broad.mit.edu	37	13	42303690	42303690	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:42303690G>A	uc001uyj.2	-	23	2696	c.2626C>T	c.(2626-2628)CGC>TGC	p.R876C	KIAA0564_uc001uyk.2_Missense_Mutation_p.R876C	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	876						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GCAACAATGCGTCTTCCATCT	0.328												
TSC22D1	8848	broad.mit.edu	37	13	45149755	45149755	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:45149755C>T	uc001uzn.3	-	1	947	c.456G>A	c.(454-456)TCG>TCA	p.S152S	TSC22D1_uc001uzo.1_Silent_p.S152S	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	152					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CAAGGATCTCCGAAGAAGAGA	0.493												
CPB2	1361	broad.mit.edu	37	13	46632459	46632459	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:46632459G>A	uc001vaw.2	-	9	921	c.854C>T	c.(853-855)TCA>TTA	p.S285L	uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.S248L	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	plasma carboxypeptidase B2 isoform a	285					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TTCTGGTTCTGACTCAGGATA	0.418												
THSD1	55901	broad.mit.edu	37	13	52971460	52971460	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:52971460T>C	uc001vgo.2	-	3	1473	c.928A>G	c.(928-930)ATG>GTG	p.M310V	THSD1_uc001vgp.2_Missense_Mutation_p.M310V|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	310	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle		p.M310I(1)		ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TTCTTCCCCATGTCAAACAAA	0.458												
MYCBP2	23077	broad.mit.edu	37	13	77636771	77636771	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:77636771G>A	uc001vkf.2	-	75	12711	c.12620C>T	c.(12619-12621)TCG>TTG	p.S4207L	MYCBP2_uc010aev.2_Missense_Mutation_p.S3611L|MYCBP2_uc001vke.2_Missense_Mutation_p.S824L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATCTCCCCGAGGAGAGACG	0.423												
SLITRK6	84189	broad.mit.edu	37	13	86368498	86368498	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:86368498G>A	uc001vll.1	-	2	2605	c.2146C>T	c.(2146-2148)CAT>TAT	p.H716Y	SLITRK6_uc010afe.1_Missense_Mutation_p.H169Y	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	716	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTTTGGAGATGTTTTGCATCA	0.403												
SLITRK5	26050	broad.mit.edu	37	13	88328422	88328422	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:88328422G>T	uc001vln.2	+	2	998	c.779G>T	c.(778-780)GGG>GTG	p.G260V	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	260	LRRCT 1.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCTGGTGGGGGATGTAGTT	0.502												
SLITRK5	26050	broad.mit.edu	37	13	88330043	88330043	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:88330043G>A	uc001vln.2	+	2	2619	c.2400G>A	c.(2398-2400)CCG>CCA	p.P800P	SLITRK5_uc010tic.1_Silent_p.P559P	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	800	Cytoplasmic (Potential).					integral to membrane		p.P800L(1)		ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					agccgccgccgccaccgcagc	0.393												
DCT	1638	broad.mit.edu	37	13	95131311	95131311	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:95131311C>T	uc001vlv.3	-	1	626	c.199G>A	c.(199-201)GAC>AAC	p.D67N	DCT_uc010afh.2_Missense_Mutation_p.D67N	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	67	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGCCTTGTGTCGGCTCGCACC	0.602												
TGDS	23483	broad.mit.edu	37	13	95229643	95229643	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:95229643A>G	uc001vlw.2	-	10	987	c.866T>C	c.(865-867)GTT>GCT	p.V289A	TGDS_uc001vlx.2_RNA	NM_014305	NP_055120	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	289					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AACATAATCAACCCAATTTTC	0.303												
CLDN10	9071	broad.mit.edu	37	13	96229572	96229572	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:96229572T>C	uc001vmh.2	+	4	613	c.552T>C	c.(550-552)TCT>TCC	p.S184S	CLDN10_uc001vmg.2_Silent_p.S182S|CLDN10_uc010tii.1_Silent_p.S163S|DZIP1_uc010afn.2_RNA	NM_006984	NP_008915	P78369	CLD10_HUMAN	claudin 10 isoform b	184	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TTTCAATATCTGACAACAACA	0.368												
C13orf27	93081	broad.mit.edu	37	13	103419621	103419621	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:103419621A>G	uc001vpo.2	-	5	682	c.504_splice	c.e5+1	p.K168_splice	C13orf27_uc001vpn.2_Splice_Site_p.K127_splice|C13orf27_uc001vpp.2_Splice_Site_p.K127_splice	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081												0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTTATAATTCACCTTTTCACA	0.383												
COL4A1	1282	broad.mit.edu	37	13	110814758	110814758	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:110814758G>A	uc001vqw.3	-	48	4403	c.4281C>T	c.(4279-4281)CCC>CCT	p.P1427P	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1427	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	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)			GCAACCCATCGGGGCCTGGTG	0.507												
COL4A2	1284	broad.mit.edu	37	13	111155630	111155630	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:111155630G>A	uc001vqx.2	+	42	4328	c.4039_splice	c.e42+1	p.G1347_splice		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGAGAAAAAGGTAACAGTGCC	0.632												
F10	2159	broad.mit.edu	37	13	113803660	113803660	+	Silent	SNP	C	C	T	rs139031355		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:113803660C>T	uc001vsx.2	+	8	1353	c.1296C>T	c.(1294-1296)TTC>TTT	p.F432F	F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	432	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	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)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCTACTTCGTGACAGGCA	0.622												
TMCO3	55002	broad.mit.edu	37	13	114150047	114150047	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:114150047C>T	uc001vtu.3	+	2	512	c.151C>T	c.(151-153)CGG>TGG	p.R51W	TMCO3_uc001vtt.3_Missense_Mutation_p.R51W	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	51						integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GCAGTGGGTCCGGGACAGCTG	0.617												
OR4K1	79544	broad.mit.edu	37	14	20404206	20404206	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:20404206T>C	uc001vwj.1	+	1	381	c.381T>C	c.(379-381)TGT>TGC	p.C127C		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TAGCCATATGTAAGCCTCTGC	0.448												
LRP10	26020	broad.mit.edu	37	14	23346575	23346575	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:23346575C>T	uc001whd.2	+	7	2534	c.1981C>T	c.(1981-1983)CGC>TGC	p.R661C	LRP10_uc001whe.2_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	661	Pro-rich.|Cytoplasmic (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCTGCGAGGCCGCCTGTTGCC	0.667												
HOMEZ	57594	broad.mit.edu	37	14	23745099	23745099	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:23745099G>A	uc001wja.2	-	2	1486	c.1338C>T	c.(1336-1338)AAC>AAT	p.N446N	HOMEZ_uc001wjb.2_Silent_p.N448N	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	446	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGCCCTTTCGTTCAAGGAGC	0.567												
MYH6	4624	broad.mit.edu	37	14	23876366	23876366	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:23876366G>A	uc001wjv.2	-	3	134	c.67C>T	c.(67-69)CGT>TGT	p.R23C	MYH6_uc010akp.1_Missense_Mutation_p.R23C	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	23	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTCTAGACGCTCCTTCTCT	0.592												
IPO4	79711	broad.mit.edu	37	14	24657835	24657835	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:24657835G>T	uc001wmv.1	-	2	210	c.79C>A	c.(79-81)CAG>AAG	p.Q27K	IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.Q27K	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	27	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		ATCTGGAGCTGTTCCGTGGCC	0.697												
CBLN3	643866	broad.mit.edu	37	14	24897543	24897543	+	Silent	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:24897543G>C	uc001wpg.3	-	2	840	c.369C>G	c.(367-369)GTC>GTG	p.V123V	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	123	Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)		GGAAGCTGTAGACACCCCGGA	0.657												
HECTD1	25831	broad.mit.edu	37	14	31570424	31570424	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:31570424G>C	uc001wrc.1	-	42	8146	c.7657C>G	c.(7657-7659)CTG>GTG	p.L2553V	HECTD1_uc001wra.1_Missense_Mutation_p.L679V|HECTD1_uc001wrb.1_Missense_Mutation_p.L679V	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	2553	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGGTTAGCCAGTCCACCTGGG	0.443												
CLEC14A	161198	broad.mit.edu	37	14	38724676	38724676	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:38724676G>A	uc001wum.1	-	1	899	c.552C>T	c.(550-552)CCC>CCT	p.P184P		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	184	Extracellular (Potential).					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		Aggcggccccggggcgcggcg	0.567												
PNN	5411	broad.mit.edu	37	14	39648395	39648395	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:39648395G>A	uc001wuw.3	+	7	696	c.599G>A	c.(598-600)CGT>CAT	p.R200H		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	200	Potential.|Necessary for interaction with RNPS1.|Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAAGAGAGGCGTGCTAAACAG	0.428												
NIN	51199	broad.mit.edu	37	14	51224353	51224353	+	Missense_Mutation	SNP	G	G	A	rs139379777		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:51224353G>A	uc001wym.2	-	18	3586	c.3395C>T	c.(3394-3396)ACG>ATG	p.T1132M	NIN_uc001wyi.2_Missense_Mutation_p.T1132M|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.T1138M|NIN_uc001wyo.2_Missense_Mutation_p.T1132M	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1132					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)					TACTTGCTTCGTTCGGTTTTG	0.488			T	PDGFRB	MPD							
NIN	51199	broad.mit.edu	37	14	51243811	51243811	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:51243811A>G	uc001wym.2	-	7	713	c.522T>C	c.(520-522)AGT>AGC	p.S174S	NIN_uc001wyi.2_Silent_p.S174S|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.S174S|NIN_uc010tqp.1_Silent_p.S180S|NIN_uc001wyo.2_Silent_p.S174S|NIN_uc001wyp.1_Silent_p.S136S	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	174					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)					GGGAAGATCCACTCTGTGAAG	0.478			T	PDGFRB	MPD							
PELI2	57161	broad.mit.edu	37	14	56763566	56763566	+	Silent	SNP	C	C	T	rs141588165	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:56763566C>T	uc001xch.2	+	6	1231	c.945C>T	c.(943-945)CAC>CAT	p.H315H		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	315					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1						GTTGTGGCCACGTGCACGGGT	0.617												
C14orf105	55195	broad.mit.edu	37	14	57960259	57960259	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:57960259C>A	uc001xcy.2	-	1	318	c.175G>T	c.(175-177)GGG>TGG	p.G59W	C14orf105_uc010trl.1_Missense_Mutation_p.G59W|C14orf105_uc010trm.1_Translation_Start_Site|C14orf105_uc010trn.1_Translation_Start_Site|C14orf105_uc001xcz.2_Missense_Mutation_p.G59W|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Translation_Start_Site	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	59											0						GGCAGCTGCCCTTCCAAGGCT	0.443												
RTN1	6252	broad.mit.edu	37	14	60194028	60194028	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:60194028G>A	uc001xen.1	-	3	1583	c.1374C>T	c.(1372-1374)CGC>CGT	p.R458R	RTN1_uc001xem.1_Silent_p.R38R	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	458					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCTCGGCCTCGCGCTCCTCCC	0.692												
RTN1	6252	broad.mit.edu	37	14	60194327	60194327	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:60194327C>T	uc001xen.1	-	3	1284	c.1075G>A	c.(1075-1077)GCC>ACC	p.A359T	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	359					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTTTGATGGCGGTGATCAGC	0.612												
PPM1A	5494	broad.mit.edu	37	14	60749953	60749953	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:60749953G>A	uc010apn.2	+	3	934	c.532G>A	c.(532-534)GCA>ACA	p.A178T	PPM1A_uc001xew.3_Missense_Mutation_p.A251T|PPM1A_uc001xex.3_Missense_Mutation_p.A178T|PPM1A_uc001xey.3_Missense_Mutation_p.A178T	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	178					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.046)		AATTCAGAATGCAGGTGGCTC	0.443												
PRKCH	5583	broad.mit.edu	37	14	61857990	61857990	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:61857990C>T	uc001xfn.2	+	2	716	c.411C>T	c.(409-411)ACC>ACT	p.T137T	PRKCH_uc010tsa.1_Intron	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	137					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TAACCCTTACCGGGAGTTTCA	0.328												
KCNH5	27133	broad.mit.edu	37	14	63511835	63511835	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:63511835T>A	uc001xfx.2	-	1	121	c.70A>T	c.(70-72)AGT>TGT	p.S24C	KCNH5_uc001xfy.2_Missense_Mutation_p.S24C|KCNH5_uc001xfz.1_Intron|KCNH5_uc001xga.2_Intron	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	24	Cytoplasmic (Potential).|PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCTTACCACTGGAGCGCCTG	0.642												
PLEKHH1	57475	broad.mit.edu	37	14	68028745	68028745	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:68028745G>A	uc001xjl.1	+	6	640	c.498G>A	c.(496-498)GCG>GCA	p.A166A		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	166	Potential.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTCAAGATGCGCTAGAAGGTA	0.507												
ACTN1	87	broad.mit.edu	37	14	69347589	69347589	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:69347589C>T	uc001xkl.2	-	17	2381	c.2071G>A	c.(2071-2073)GAC>AAC	p.D691N	ACTN1_uc001xkk.2_Missense_Mutation_p.D287N|ACTN1_uc010ttb.1_Missense_Mutation_p.D626N|ACTN1_uc001xkm.2_Missense_Mutation_p.D691N|ACTN1_uc001xkn.2_Missense_Mutation_p.D691N|ACTN1_uc010ttc.1_Missense_Mutation_p.D276N	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	691	Spectrin 4.|Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGCTGGTGGTCGCCCTCCAGC	0.577												
ACTN1	87	broad.mit.edu	37	14	69358908	69358908	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:69358908G>A	uc001xkl.2	-	10	1258	c.948C>T	c.(946-948)TTC>TTT	p.F316F	ACTN1_uc010ttb.1_Silent_p.F251F|ACTN1_uc001xkm.2_Silent_p.F316F|ACTN1_uc001xkn.2_Silent_p.F316F|ACTN1_uc001xko.1_Silent_p.F251F|ACTN1_uc010ttd.1_Silent_p.F295F	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	316	Spectrin 1.|Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGTAGTCCCGGAAGTCCTCCA	0.617												
DCAF5	8816	broad.mit.edu	37	14	69521943	69521943	+	Missense_Mutation	SNP	C	C	A	rs139500055		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:69521943C>A	uc001xkp.2	-	9	1679	c.1460G>T	c.(1459-1461)CGG>CTG	p.R487L	DCAF5_uc001xkq.2_Missense_Mutation_p.R486L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	487						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						GGTGGTGACCCGCAGGGGCCC	0.617												
DPF3	8110	broad.mit.edu	37	14	73198564	73198564	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:73198564A>G	uc001xnc.2	-	4	393	c.380T>C	c.(379-381)GTT>GCT	p.V127A	DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.V127A|DPF3_uc010ttq.1_Missense_Mutation_p.V137A	NM_012074	NP_036206	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	127					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCTTCTCAACCCCCTCGCC	0.547												
NUMB	8650	broad.mit.edu	37	14	73743385	73743385	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:73743385C>T	uc001xny.1	-	13	2177	c.1857G>A	c.(1855-1857)CAG>CAA	p.Q619Q	NUMB_uc010aro.1_Silent_p.Q424Q|NUMB_uc010arp.1_Silent_p.Q413Q|NUMB_uc010arq.1_Silent_p.Q473Q|NUMB_uc010arr.1_Silent_p.Q462Q|NUMB_uc001xoa.1_Silent_p.Q571Q|NUMB_uc001xnz.1_Silent_p.Q608Q|NUMB_uc001xob.1_Silent_p.Q560Q|NUMB_uc001xod.1_Silent_p.Q571Q|NUMB_uc001xoc.1_Silent_p.Q619Q|NUMB_uc010ars.1_Silent_p.Q608Q|NUMB_uc010ttz.1_Silent_p.Q317Q	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	numb homolog isoform 1	619					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				ovary(2)|central_nervous_system(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ATGCAGCCCACTGGGCTTCAA	0.488												
C14orf115	55237	broad.mit.edu	37	14	74824357	74824357	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:74824357G>A	uc001xpw.3	+	2	1062	c.871G>A	c.(871-873)GTC>ATC	p.V291I		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	291					transposition, DNA-mediated		DNA binding|transposase activity	p.V291I(1)			0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GCGCTACAGCGTCACCAAAAG	0.632												
NPC2	10577	broad.mit.edu	37	14	74951266	74951266	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:74951266G>A	uc001xpy.2	-	3	322	c.215C>T	c.(214-216)GCC>GTC	p.A72V	NPC2_uc010tus.1_Missense_Mutation_p.A72V	NM_006432	NP_006423	P61916	NPC2_HUMAN	epididymal secretory protein E1 precursor	72					cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding				0				BRCA - Breast invasive adenocarcinoma(234;0.00149)		ATGCACCACGGCCTTGCTGCT	0.398												
PROX2	283571	broad.mit.edu	37	14	75330060	75330060	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:75330060C>T	uc001xqr.1	-	1	478	c.478G>A	c.(478-480)GCT>ACT	p.A160T	PROX2_uc001xqq.1_Missense_Mutation_p.A86T	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	160					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGCCCCTGAGCTGTGTCCCTG	0.612												
C14orf145	145508	broad.mit.edu	37	14	81366294	81366294	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:81366294G>T	uc001xux.2	-	6	731	c.560C>A	c.(559-561)TCC>TAC	p.S187Y	C14orf145_uc001xuz.2_Missense_Mutation_p.S187Y|C14orf145_uc001xva.1_Missense_Mutation_p.S187Y|C14orf145_uc001xuy.1_Missense_Mutation_p.S45Y	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	187						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		GCTCCTTCTGGAAAGCTCCCT	0.393												
ZC3H14	79882	broad.mit.edu	37	14	89069403	89069403	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:89069403C>T	uc001xww.2	+	12	1971	c.1746C>T	c.(1744-1746)AAC>AAT	p.N582N	ZC3H14_uc010twd.1_Silent_p.N582N|ZC3H14_uc010twe.1_Intron|ZC3H14_uc001xwx.2_Intron|ZC3H14_uc010twf.1_Intron|ZC3H14_uc001xwy.2_Intron|ZC3H14_uc010twg.1_Intron|ZC3H14_uc001xxa.2_Silent_p.N127N|ZC3H14_uc001xxc.2_Intron|ZC3H14_uc001xxb.2_Intron	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	582						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						GCTTTTCTAACGGTGTGTTGA	0.468												
TRIP11	9321	broad.mit.edu	37	14	92460225	92460225	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:92460225T>C	uc001xzy.2	-	15	5876	c.5088A>G	c.(5086-5088)GAA>GAG	p.E1696E	TRIP11_uc010auf.1_Silent_p.E1432E	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1696	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)		GTTTTTGCTTTTCGAGTTCAG	0.328			T	PDGFRB	AML							
COX8C	341947	broad.mit.edu	37	14	93813698	93813698	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:93813698C>T	uc001ybt.1	+	1	162	c.84C>T	c.(82-84)TTC>TTT	p.F28F	KIAA1409_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIc	28						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		CTCCCCGCTTCGCCCACTCGG	0.756												
SERPINA10	51156	broad.mit.edu	37	14	94750338	94750338	+	Silent	SNP	C	C	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:94750338C>G	uc001yct.2	-	5	1765	c.1299G>C	c.(1297-1299)CTG>CTC	p.L433L	SERPINA10_uc001ycu.3_Silent_p.L433L	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	433					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGCCCAGAAACAGAAGCATTC	0.443												
CLMN	79789	broad.mit.edu	37	14	95669173	95669173	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:95669173A>G	uc001yef.2	-	9	2627	c.2511_splice	c.e9+1	p.Q837_splice		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin							integral to membrane	actin binding				0				Epithelial(152;0.193)		ACGGTTGAGTACCTGATGGCT	0.552												
TECPR2	9895	broad.mit.edu	37	14	102910040	102910040	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:102910040C>T	uc001ylw.1	+	12	2957	c.2809C>T	c.(2809-2811)CTG>TTG	p.L937L	TECPR2_uc010awl.2_Silent_p.L937L|TECPR2_uc010txx.1_Silent_p.L100L	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	937							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						TCCCTACCCGCTGTCCCAGAT	0.612												
CDC42BPB	9578	broad.mit.edu	37	14	103413017	103413017	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:103413017G>A	uc001ymi.1	-	28	3768	c.3536C>T	c.(3535-3537)ACG>ATG	p.T1179M	CDC42BPB_uc001ymj.1_Missense_Mutation_p.T281M	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1179	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GAGAGAGGCCGTCACCTTCAT	0.532												
ASPG	374569	broad.mit.edu	37	14	104552117	104552117	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:104552117G>A	uc001yoq.1	+	1	70	c.10G>A	c.(10-12)GCG>ACG	p.A4T	ASPG_uc001yoo.1_5'UTR|ASPG_uc001yop.1_Missense_Mutation_p.A4T|ASPG_uc001yor.1_Missense_Mutation_p.A4T	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	4					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						CATGGCGCGCGCGGTGGGGCC	0.761												
JAG2	3714	broad.mit.edu	37	14	105622325	105622325	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:105622325C>A	uc001yqg.2	-	4	881	c.477G>T	c.(475-477)GAG>GAT	p.E159D	JAG2_uc001yqh.2_Missense_Mutation_p.E159D	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	159	Extracellular (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)|breast(2)	5		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCAGCAGCTCCTCTTGGGGAG	0.672												
TUBGCP5	114791	broad.mit.edu	37	15	22855087	22855087	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:22855087C>T	uc001yur.3	+	13	1678	c.1548C>T	c.(1546-1548)AGC>AGT	p.S516S	TUBGCP5_uc001yuq.2_Silent_p.S516S|TUBGCP5_uc010axz.1_Silent_p.S103S	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	516					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(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;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CGTTATATAGCGTATCAGAAA	0.398												
CYFIP1	23191	broad.mit.edu	37	15	22926026	22926026	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:22926026C>T	uc001yus.2	+	3	272	c.168C>T	c.(166-168)ATC>ATT	p.I56I	CYFIP1_uc001yut.2_Silent_p.I56I|CYFIP1_uc010aya.1_Intron	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	56					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTACTGGCATCGCAAGATACA	0.453												
HERC2	8924	broad.mit.edu	37	15	28447515	28447515	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:28447515G>A	uc001zbj.2	-	46	7564	c.7458C>T	c.(7456-7458)TCC>TCT	p.S2486S	HERC2_uc001zbk.1_Silent_p.S21S	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2486					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)		ATGCATTCCCGGAAGCACCAG	0.562												
OTUD7A	161725	broad.mit.edu	37	15	31819430	31819430	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:31819430G>A	uc001zfq.2	-	5	827	c.734C>T	c.(733-735)GCC>GTC	p.A245V	OTUD7A_uc001zfr.2_Missense_Mutation_p.A245V	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	245	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCGCTTCAGGGCTTCCCTCTC	0.617												
AQR	9716	broad.mit.edu	37	15	35202392	35202392	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:35202392C>T	uc001ziv.2	-	17	1788	c.1607G>A	c.(1606-1608)CGT>CAT	p.R536H		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	536						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AACATCTGCACGAACTCGGGT	0.448												
C15orf41	84529	broad.mit.edu	37	15	37100597	37100597	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:37100597C>T	uc001zje.3	+	11	1039	c.789C>T	c.(787-789)ATC>ATT	p.I263I	C15orf41_uc001zjd.2_Silent_p.I263I|C15orf41_uc010bbb.1_Silent_p.I165I|C15orf41_uc001zjf.2_Silent_p.I165I|C15orf41_uc010uci.1_Silent_p.I165I|CSNK1A1P_uc001zjg.3_Intron	NM_001130010	NP_001123482	Q9Y2V0	CO041_HUMAN	hypothetical protein LOC84529 isoform 1	263							protein binding			pancreas(1)	1		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		AAAGGGGCATCCTGCTCAAAG	0.478												
BAHD1	22893	broad.mit.edu	37	15	40751845	40751845	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:40751845G>A	uc001zlu.2	+	2	1253	c.1182G>A	c.(1180-1182)TCG>TCA	p.S394S	BAHD1_uc001zlt.2_Silent_p.S394S|BAHD1_uc010bbp.1_Silent_p.S394S|BAHD1_uc001zlv.2_Silent_p.S394S	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	394					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGGGCTACTCGCCCTGCCCCA	0.637												
BAHD1	22893	broad.mit.edu	37	15	40756081	40756081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:40756081C>T	uc001zlu.2	+	4	1908	c.1837C>T	c.(1837-1839)CGA>TGA	p.R613*	BAHD1_uc001zlt.2_Nonsense_Mutation_p.R612*|BAHD1_uc010bbp.1_Nonsense_Mutation_p.R612*|BAHD1_uc001zlv.2_Nonsense_Mutation_p.R613*	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	613					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCAGCCATCCGAAAGAGCTA	0.542												
VPS18	57617	broad.mit.edu	37	15	41192112	41192112	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:41192112C>T	uc001zne.2	+	4	1435	c.1096C>T	c.(1096-1098)CTG>TTG	p.L366L		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	366					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ATTTGGGCCGCTGAAGCACAT	0.622												
CAPN3	825	broad.mit.edu	37	15	42680050	42680050	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:42680050T>A	uc001zpn.1	+	4	904	c.598T>A	c.(598-600)TTC>ATC	p.F200I	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.F113I|CAPN3_uc010udf.1_Missense_Mutation_p.F113I|CAPN3_uc010udg.1_Missense_Mutation_p.F113I|CAPN3_uc001zpo.1_Missense_Mutation_p.F200I|CAPN3_uc001zpp.1_Missense_Mutation_p.F200I	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	200	Calpain catalytic.		Missing (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCGCAATGAGTTCTGGAGTGC	0.498												
LRRC57	255252	broad.mit.edu	37	15	42839648	42839648	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:42839648C>T	uc001zqd.1	-	3	671	c.303G>A	c.(301-303)CCG>CCA	p.P101P	HAUS2_uc001zqe.2_5'Flank|HAUS2_uc010udi.1_5'Flank|HAUS2_uc001zqf.2_5'Flank|LRRC57_uc001zqc.2_Silent_p.P101P	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	101	LRR 3.										0		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		CAAAGGTAGACGGCAGCTCTC	0.478												
EPB42	2038	broad.mit.edu	37	15	43495432	43495432	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:43495432G>A	uc001zra.3	-	11	1960	c.1660C>T	c.(1660-1662)CGA>TGA	p.R554*	EPB42_uc001zqz.3_Nonsense_Mutation_p.R221*|EPB42_uc010bde.2_Intron|EPB42_uc001zrb.3_Nonsense_Mutation_p.R584*|EPB42_uc010udm.1_Nonsense_Mutation_p.R476*	NM_001114134	NP_001107606	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2 isoform 2	554					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			ovary(2)	2		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GGTGGGTTTCGCTCAAAATTG	0.478												
TP53BP1	7158	broad.mit.edu	37	15	43712857	43712857	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:43712857G>T	uc001zrs.2	-	21	4460	c.4312C>A	c.(4312-4314)CGT>AGT	p.R1438S	TP53BP1_uc010udp.1_Missense_Mutation_p.R1438S|TP53BP1_uc001zrq.3_Missense_Mutation_p.R1443S|TP53BP1_uc001zrr.3_Missense_Mutation_p.R1443S|TP53BP1_uc010udq.1_Missense_Mutation_p.R1443S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1438					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		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)		GGCACGACACGGCTGAAGGAT	0.532								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes				
DUOXA2	405753	broad.mit.edu	37	15	45408793	45408793	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:45408793G>A	uc001zuo.2	+	4	700	c.420G>A	c.(418-420)GCG>GCA	p.A140A	DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	dual oxidase activator 2	140	Extracellular (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane					0		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;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		ATTACGCCGCGGAGTACGCGA	0.607												
SLC12A1	6557	broad.mit.edu	37	15	48541850	48541850	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:48541850A>G	uc001zwn.3	+	14	1979	c.1763A>G	c.(1762-1764)CAT>CGT	p.H588R	SLC12A1_uc010uew.1_Missense_Mutation_p.H394R|SLC12A1_uc010bem.2_Missense_Mutation_p.H588R|SLC12A1_uc001zwq.3_Missense_Mutation_p.H359R|SLC12A1_uc001zwr.3_Missense_Mutation_p.H315R	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	588	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TCCTGCTTCCATGCCTCTTAT	0.378												
CYP19A1	1588	broad.mit.edu	37	15	51504687	51504687	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:51504687G>A	uc001zyz.3	-	10	1344	c.1093C>T	c.(1093-1095)CGG>TGG	p.R365W	CYP19A1_uc001zza.3_Missense_Mutation_p.R365W|CYP19A1_uc001zzb.2_Missense_Mutation_p.R365W	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	365			R -> Q (in AROD; 0.4% of wild-type activity).		estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GGCTGGTACCGCATGCTCTCA	0.388												
GLDN	342035	broad.mit.edu	37	15	51696626	51696626	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:51696626G>A	uc002aba.2	+	10	1500	c.1331G>A	c.(1330-1332)GGC>GAC	p.G444D	GLDN_uc002abb.2_Missense_Mutation_p.G320D	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	444	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGTGTGGACGGCTCGAGCATT	0.428												
ARPP19	10776	broad.mit.edu	37	15	52844160	52844160	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:52844160A>G	uc002acd.1	-	3	434	c.310T>C	c.(310-312)TCC>CCC	p.S104P	ARPP19_uc002ace.1_Missense_Mutation_p.S104P	NM_006628	NP_006619	P56211	ARP19_HUMAN	cyclic AMP phosphoprotein, 19 kD	104					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding				0						GCAACAAGGGACGGCTTCCGT	0.448												
WDR72	256764	broad.mit.edu	37	15	53957791	53957791	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:53957791A>G	uc002acj.2	-	14	1982	c.1940T>C	c.(1939-1941)CTG>CCG	p.L647P	WDR72_uc010bfi.1_Missense_Mutation_p.L647P	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	647										lung(1)|skin(1)	2				all cancers(107;0.0511)		CTCCACCTGCAGACCAGGGCA	0.423												
ZNF280D	54816	broad.mit.edu	37	15	56968897	56968897	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:56968897G>A	uc002adu.2	-	13	1598	c.1381C>T	c.(1381-1383)CCA>TCA	p.P461S	ZNF280D_uc002adv.2_Missense_Mutation_p.P448S|ZNF280D_uc010bfq.2_Missense_Mutation_p.P461S|ZNF280D_uc002adw.1_Missense_Mutation_p.P489S|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	461	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGCATATATGGTGTTGCAATT	0.318												
SLC24A1	9187	broad.mit.edu	37	15	65946326	65946326	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:65946326T>C	uc010ujf.1	+	10	3496	c.3209T>C	c.(3208-3210)CTG>CCG	p.L1070P	SLC24A1_uc010uje.1_Intron|SLC24A1_uc010ujg.1_Missense_Mutation_p.L1040P|SLC24A1_uc010ujh.1_Missense_Mutation_p.L1052P|SLC24A1_uc010uji.1_Missense_Mutation_p.L397P	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	1070	Helical; (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						AACAAGATCCTGGGCTTCACA	0.388												
DIS3L	115752	broad.mit.edu	37	15	66612978	66612978	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:66612978C>T	uc010ujm.1	+	9	1249	c.1234C>T	c.(1234-1236)CGT>TGT	p.R412C	DIS3L_uc010ujl.1_Missense_Mutation_p.R42C|DIS3L_uc002app.2_Missense_Mutation_p.R329C|DIS3L_uc002apq.2_Missense_Mutation_p.R412C|DIS3L_uc010bho.2_Missense_Mutation_p.R278C	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	412					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						ACATTTTGTGCGTGTTTTAGG	0.438												
KIF23	9493	broad.mit.edu	37	15	69728919	69728919	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:69728919C>T	uc002asb.2	+	14	1530	c.1413C>T	c.(1411-1413)GAC>GAT	p.D471D	KIF23_uc002asc.2_Silent_p.D471D|KIF23_uc010bii.2_Silent_p.D361D|KIF23_uc010ukc.1_Silent_p.D288D	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	471					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						TGGTTACTGACGTGGTTTTGC	0.383												
LRRC49	54839	broad.mit.edu	37	15	71300948	71300948	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:71300948A>C	uc002asw.2	+	12	1647	c.1400A>C	c.(1399-1401)AAT>ACT	p.N467T	LRRC49_uc002asu.2_Missense_Mutation_p.N457T|LRRC49_uc002asx.2_Missense_Mutation_p.N423T|LRRC49_uc010ukf.1_Missense_Mutation_p.N472T|LRRC49_uc002asy.2_Missense_Mutation_p.N173T|LRRC49_uc002asz.2_Missense_Mutation_p.N439T	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	467						cytoplasm|microtubule				ovary(1)	1						AAGTTTCCTAATTCTCTGGTA	0.333												
NR2E3	10002	broad.mit.edu	37	15	72109919	72109919	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:72109919C>T	uc002ati.2	+	9	1317	c.1127C>T	c.(1126-1128)CCG>CTG	p.P376L		NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	photoreceptor-specific nuclear receptor isoform	376					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0						CTGCTCCTCCCGTCTTTGAGG	0.517												
PML	5371	broad.mit.edu	37	15	74290466	74290466	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:74290466C>T	uc002awv.2	+	2	391	c.251C>T	c.(250-252)TCG>TTG	p.S84L	PML_uc002awm.2_Missense_Mutation_p.S84L|PML_uc002awl.2_Missense_Mutation_p.S84L|PML_uc002awj.1_Missense_Mutation_p.S84L|PML_uc002awk.2_Missense_Mutation_p.S84L|PML_uc002awn.2_Missense_Mutation_p.S84L|PML_uc002awo.2_Missense_Mutation_p.S84L|PML_uc002awp.2_Missense_Mutation_p.S84L|PML_uc002awq.2_Missense_Mutation_p.S84L|PML_uc002awr.2_Missense_Mutation_p.S84L|PML_uc002aws.2_Missense_Mutation_p.S84L|PML_uc002awt.2_Missense_Mutation_p.S84L|PML_uc002awu.2_Missense_Mutation_p.S84L|PML_uc010ule.1_Intron|PML_uc002aww.1_5'UTR	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	84	RING-type.				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						CTGGAGGCGTCGGGCATGCAG	0.642			T	RARA|PAX5	APL|ALL							
ISLR2	57611	broad.mit.edu	37	15	74427108	74427108	+	Silent	SNP	C	C	T	rs143526022		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:74427108C>T	uc002axd.2	+	4	2782	c.2013C>T	c.(2011-2013)GAC>GAT	p.D671D	ISLR2_uc002axe.2_Silent_p.D671D|ISLR2_uc010bjg.2_Silent_p.D671D|ISLR2_uc010bjf.2_Silent_p.D671D	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	671	Cytoplasmic (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						AGCCAGAGGACGTGCAGGGGG	0.677											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CLK3	1198	broad.mit.edu	37	15	74912508	74912508	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:74912508G>A	uc010uln.1	+	3	1216	c.755G>A	c.(754-756)CGC>CAC	p.R252H	CLK3_uc002ayg.3_Missense_Mutation_p.R104H|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R252H|CLK3_uc002ayj.3_Missense_Mutation_p.R104H|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	252	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						TACCGGACCCGCAAGCATGCC	0.622												
C15orf39	56905	broad.mit.edu	37	15	75498393	75498393	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:75498393G>A	uc002azp.3	+	2	324	c.4G>A	c.(4-6)GCA>ACA	p.A2T	C15orf39_uc002azq.3_Missense_Mutation_p.A2T|C15orf39_uc002azr.3_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	2											0						CACAGCGATGGCAGAGAAGCG	0.597												
C15orf39	56905	broad.mit.edu	37	15	75501053	75501053	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:75501053C>T	uc002azp.3	+	2	2984	c.2664C>T	c.(2662-2664)GCC>GCT	p.A888A	C15orf39_uc002azq.3_Silent_p.A888A|C15orf39_uc002azr.3_Silent_p.A286A	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	888											0						GGGAGCTCGCCCTGCCAGGCT	0.672												
CSPG4	1464	broad.mit.edu	37	15	75974714	75974714	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:75974714G>A	uc002baw.2	-	8	4963	c.4870C>T	c.(4870-4872)CGG>TGG	p.R1624W		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1624	Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11.				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						TGGGGGCCCCGCACCACACGG	0.662												
CHRNA3	1136	broad.mit.edu	37	15	78894268	78894268	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:78894268C>T	uc002bec.2	-	5	902	c.716G>A	c.(715-717)CGC>CAC	p.R239H	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.R239H	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	239	Extracellular (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4						CAAGGGCAGGCGCCGGATGTA	0.557												
RASGRF1	5923	broad.mit.edu	37	15	79290463	79290463	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:79290463G>A	uc002beq.2	-	20	3364	c.2989C>T	c.(2989-2991)CGG>TGG	p.R997W	RASGRF1_uc002bep.2_Missense_Mutation_p.R981W|RASGRF1_uc010blm.1_Missense_Mutation_p.R906W|RASGRF1_uc002ber.3_Missense_Mutation_p.R981W|RASGRF1_uc010unh.1_Missense_Mutation_p.R392W|RASGRF1_uc002beo.2_Missense_Mutation_p.R213W	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	999					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						GCAGCCTTCCGCTCCTGGGTC	0.587												
RASGRF1	5923	broad.mit.edu	37	15	79339295	79339295	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:79339295G>A	uc002beq.2	-	5	1046	c.671C>T	c.(670-672)ACC>ATC	p.T224I	RASGRF1_uc002bep.2_Missense_Mutation_p.T224I|RASGRF1_uc010blm.1_Missense_Mutation_p.T146I|RASGRF1_uc002ber.3_Missense_Mutation_p.T224I	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	224	IQ.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						CTGGATGATGGTCTTCCACTT	0.617												
MTHFS	10588	broad.mit.edu	37	15	80181594	80181594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:80181594G>A	uc002bex.3	-	2	260	c.220C>T	c.(220-222)CGA>TGA	p.R74*		NM_006441	NP_006432	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase	74					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding				0				all cancers(203;0.00467)		ATTTTGCCTCGTTGGAAAATG	0.413												
TMC3	342125	broad.mit.edu	37	15	81625552	81625552	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:81625552C>T	uc002bgo.1	-	22	2511	c.2511G>A	c.(2509-2511)TCG>TCA	p.S837S	TMC3_uc010blr.1_RNA	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	837	Cytoplasmic (Potential).					integral to membrane				ovary(1)|liver(1)	2						TAGGTGTGCGCGATCTGTTCC	0.512												
ZSCAN2	54993	broad.mit.edu	37	15	85147393	85147393	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:85147393C>T	uc002bkr.2	+	2	461	c.235C>T	c.(235-237)CGC>TGC	p.R79C	ZSCAN2_uc002bkp.2_Missense_Mutation_p.R79C|ZSCAN2_uc002bkq.2_Missense_Mutation_p.R79C|ZSCAN2_uc010bmz.1_Missense_Mutation_p.R78C|ZSCAN2_uc010bna.2_Intron|ZSCAN2_uc010uox.1_Missense_Mutation_p.R78C|ZSCAN2_uc010uoy.1_Missense_Mutation_p.R78C|ZSCAN2_uc010uoz.1_Missense_Mutation_p.R78C	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	79	SCAN box.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		TGCACTCGGCCGCCTCCGAGA	0.632												
DET1	55070	broad.mit.edu	37	15	89074383	89074383	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:89074383C>T	uc002bmr.2	-	2	706	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.R196Q	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	185						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TAGAGGGGACCGTGGGTTGGG	0.527												
FURIN	5045	broad.mit.edu	37	15	91422181	91422181	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:91422181G>A	uc002bpu.1	+	9	1244	c.1028G>A	c.(1027-1029)AGT>AAT	p.S343N		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	343					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACCTACAGCAGTGGCAACCAG	0.607												
SV2B	9899	broad.mit.edu	37	15	91801724	91801724	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:91801724C>A	uc002bqv.2	+	4	1249	c.858C>A	c.(856-858)CCC>CCA	p.P286P	SV2B_uc002bqt.2_Silent_p.P286P|SV2B_uc010uqv.1_Silent_p.P135P|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	286	Helical; (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTGCTCTGCCCTGCACCGTGT	0.542												
CHD2	1106	broad.mit.edu	37	15	93567925	93567925	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:93567925G>A	uc002bsp.2	+	39	6052	c.5477G>A	c.(5476-5478)CGG>CAG	p.R1826Q		NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1826					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGGAATGTTCGGAAAACATAA	0.428												
TTC23	64927	broad.mit.edu	37	15	99740199	99740199	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:99740199T>C	uc002bur.2	-	8	1215	c.684A>G	c.(682-684)GTA>GTG	p.V228V	TTC23_uc002bus.2_Silent_p.V228V|TTC23_uc002but.2_Silent_p.V228V|TTC23_uc002buu.2_Silent_p.V228V|TTC23_uc002buv.2_Silent_p.V228V|TTC23_uc002bux.2_Silent_p.V228V|TTC23_uc002buw.2_Silent_p.V228V|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Silent_p.V228V|TTC23_uc010bor.2_Silent_p.V228V|TTC23_uc002buz.2_Silent_p.V228V	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	228							binding				0	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TCAATATGGGTACACACTCAC	0.453												
RHBDL1	9028	broad.mit.edu	37	16	727934	727934	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:727934G>A	uc002cis.1	+	7	1226	c.1199G>A	c.(1198-1200)CGG>CAG	p.R400Q	RHBDL1_uc002cir.1_Missense_Mutation_p.R335Q|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.2_5'Flank|STUB1_uc002ciu.2_5'Flank|STUB1_uc010bqz.2_5'Flank|STUB1_uc002civ.2_5'Flank	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	400					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				GAGCGCCTGCGGGACCAGTGC	0.697												
WDR24	84219	broad.mit.edu	37	16	736817	736817	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:736817G>A	uc002ciz.1	-	3	2019	c.1259C>T	c.(1258-1260)GCG>GTG	p.A420V	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	550										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				GCCAGCCAGCGCATAACGCTC	0.657												
C16orf91	283951	broad.mit.edu	37	16	1478472	1478472	+	Missense_Mutation	SNP	C	C	T	rs137919651		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:1478472C>T	uc010uvd.1	-	2	179	c.179G>A	c.(178-180)CGG>CAG	p.R60Q		NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	hypothetical protein LOC283951	Error:Variant_position_missing_in_Q4G0I0_after_alignment						integral to membrane					0						CACCTGCGCCCGAAGCCTGGG	0.672												
SPSB3	90864	broad.mit.edu	37	16	1828472	1828472	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:1828472G>A	uc002cmr.2	-	2	301	c.268C>T	c.(268-270)CGG>TGG	p.R90W	SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Missense_Mutation_p.R90W|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Missense_Mutation_p.R145W	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	90	B30.2/SPRY.				intracellular signal transduction						0						TCCCTGCCCCGGTGGGCCGAG	0.711												
IGFALS	3483	broad.mit.edu	37	16	1842221	1842221	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:1842221C>T	uc002cmy.2	-	2	279	c.198G>A	c.(196-198)ACG>ACA	p.T66T	IGFALS_uc010uvn.1_Silent_p.T104T|IGFALS_uc010uvo.1_5'UTR	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	66	LRRNT.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0						CAGGCAGGCGCGTGAGGTTCC	0.692												
TSC2	7249	broad.mit.edu	37	16	2110801	2110801	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:2110801T>G	uc002con.2	+	11	1212	c.1106T>G	c.(1105-1107)CTT>CGT	p.L369R	TSC2_uc010bsd.2_Missense_Mutation_p.L369R|TSC2_uc002coo.2_Missense_Mutation_p.L369R|TSC2_uc010uvv.1_Missense_Mutation_p.L332R|TSC2_uc010uvw.1_Missense_Mutation_p.L320R|TSC2_uc002cop.2_Missense_Mutation_p.L169R	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	369	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				GAACGGCTCCTTCAGCAGCTC	0.602			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
TBC1D24	57465	broad.mit.edu	37	16	2546177	2546177	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:2546177G>A	uc002cql.2	+	2	168	c.28G>A	c.(28-30)GTG>ATG	p.V10M	TBC1D24_uc002cqk.2_Missense_Mutation_p.V10M|TBC1D24_uc002cqm.2_Missense_Mutation_p.V10M|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	10					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						CAACTGCTTCGTGGACAAAGA	0.622												
OR2C1	4993	broad.mit.edu	37	16	3406271	3406271	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:3406271G>A	uc002cuw.1	+	1	383	c.331G>A	c.(331-333)GAG>AAG	p.E111K		NM_012368	NP_036500	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGGGGCCACCGAGTGCATCCT	0.587												
ZNF174	7727	broad.mit.edu	37	16	3452239	3452239	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:3452239C>T	uc002cvc.2	+	1	1050	c.235C>T	c.(235-237)CTG>TTG	p.L79L	ZNF434_uc002cux.3_5'Flank|ZNF434_uc010uwx.1_5'Flank|ZNF434_uc002cuy.3_5'Flank|ZNF434_uc002cuz.2_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Silent_p.L79L|ZNF174_uc002cvb.2_Silent_p.L79L	NM_003450	NP_003441	Q15697	ZN174_HUMAN	zinc finger protein 174 isoform a	79	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0						GCAACCCGAGCTGCACACCAA	0.582												
TFAP4	7023	broad.mit.edu	37	16	4310529	4310529	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:4310529T>A	uc010uxg.1	-	5	847	c.593A>T	c.(592-594)CAG>CTG	p.Q198L		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	198	Gln-rich.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						ctgctgctgctgcagctgcac	0.383												
TFAP4	7023	broad.mit.edu	37	16	4310532	4310532	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:4310532A>T	uc010uxg.1	-	5	844	c.590T>A	c.(589-591)CTG>CAG	p.L197Q		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	197	Gln-rich.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						ctgctgctgcagctgcacctg	0.383												
UBN1	29855	broad.mit.edu	37	16	4920883	4920883	+	Missense_Mutation	SNP	G	G	A	rs143382224		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:4920883G>A	uc002cyb.2	+	11	1808	c.1469G>A	c.(1468-1470)CGG>CAG	p.R490Q	UBN1_uc010uxw.1_Missense_Mutation_p.R490Q|UBN1_uc002cyc.2_Missense_Mutation_p.R490Q	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	490	Potential.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						CAGAGGGACCGGATTTGTTCG	0.537												
ATF7IP2	80063	broad.mit.edu	37	16	10524868	10524868	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:10524868A>G	uc002czu.2	+	3	618	c.391A>G	c.(391-393)ACA>GCA	p.T131A	ATF7IP2_uc002czv.2_Missense_Mutation_p.T131A|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.T131A|ATF7IP2_uc010uyq.1_RNA	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CAGAGTCTTCACAGAAGAGGC	0.403												
GPRC5B	51704	broad.mit.edu	37	16	19873222	19873222	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:19873222G>A	uc002dgt.2	-	3	1212	c.1104C>T	c.(1102-1104)AGC>AGT	p.S368S	GPRC5B_uc010vav.1_Silent_p.S394S	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	368	Cytoplasmic (Potential).									lung(1)|breast(1)|skin(1)	3						TAAACGGAGCGCTGGGTCTTT	0.557												
USP31	57478	broad.mit.edu	37	16	23080765	23080765	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:23080765C>T	uc002dll.2	-	16	2661	c.2661G>A	c.(2659-2661)TCG>TCA	p.S887S	USP31_uc002dlk.2_Silent_p.S159S|USP31_uc010vca.1_Silent_p.S190S|USP31_uc010bxm.2_Silent_p.S175S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	887	Ser-rich.				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)		TGTGAATTGGCGAATCCCCTG	0.517												
PALB2	79728	broad.mit.edu	37	16	23641345	23641345	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:23641345C>T	uc002dlx.1	-	5	2330	c.2130G>A	c.(2128-2130)ACG>ACA	p.T710T		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	710					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)		CAGGCGCAACCGTATTTAAAG	0.463			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			
ARHGAP17	55114	broad.mit.edu	37	16	24971014	24971014	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:24971014G>A	uc002dnb.2	-	9	795	c.702C>T	c.(700-702)CTC>CTT	p.L234L	ARHGAP17_uc002dna.2_5'Flank|ARHGAP17_uc002dnc.2_Silent_p.L234L|ARHGAP17_uc010vcf.1_Silent_p.L55L|ARHGAP17_uc002dnf.2_Silent_p.L142L|ARHGAP17_uc002dng.1_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	234	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GCATTTCGGGGAGGGTCTTTT	0.483												
GTF3C1	2975	broad.mit.edu	37	16	27540017	27540017	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:27540017C>T	uc002dov.1	-	6	915	c.875G>A	c.(874-876)CGT>CAT	p.R292H	GTF3C1_uc002dou.2_Missense_Mutation_p.R292H	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	292						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CTGGTACAGACGCTTAAACGT	0.448												
KIAA0556	23247	broad.mit.edu	37	16	27789260	27789260	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:27789260G>A	uc002dow.2	+	27	4795	c.4771G>A	c.(4771-4773)GCG>ACG	p.A1591T	KIAA0556_uc010vco.1_Missense_Mutation_p.A93T	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1591										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CATTACCAACGCGAAACGGAA	0.507												
TAOK2	9344	broad.mit.edu	37	16	29994071	29994071	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:29994071G>A	uc002dva.1	+	11	1631	c.848G>A	c.(847-849)CGG>CAG	p.R283Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.R283Q|TAOK2_uc002dvc.1_Missense_Mutation_p.R283Q|TAOK2_uc010bzm.1_Missense_Mutation_p.R283Q|TAOK2_uc002dvd.1_Missense_Mutation_p.R110Q	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	283					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						TTTGTGCTCCGGGAGCGGCCA	0.622												
ITGAL	3683	broad.mit.edu	37	16	30507871	30507871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:30507871C>T	uc002dyi.3	+	15	1992	c.1816C>T	c.(1816-1818)CAG>TAG	p.Q606*	ITGAL_uc002dyj.3_Nonsense_Mutation_p.Q523*|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	606	FG-GAP 7.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	GGCTGAGAGCCAGATGATCGT	0.478												
STX4	6810	broad.mit.edu	37	16	31046335	31046335	+	Missense_Mutation	SNP	G	G	A	rs140610940		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:31046335G>A	uc002eal.2	+	5	576	c.352G>A	c.(352-354)GTC>ATC	p.V118I	STX4_uc002eak.2_Missense_Mutation_p.V116I|STX4_uc002eam.2_Missense_Mutation_p.V40I	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	118	Cytoplasmic (Potential).|Potential.				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity				0						CTATAACTCCGTCAACACAAG	0.423												
VKORC1	79001	broad.mit.edu	37	16	31104662	31104662	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:31104662C>G	uc002eas.2	-	2	480	c.254G>C	c.(253-255)TGC>TCC	p.C85S	PRSS53_uc002ear.2_5'UTR|VKORC1_uc002eat.2_Intron|VKORC1_uc002eau.2_Missense_Mutation_p.C85S	NM_024006	NP_076869	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	85	Cytoplasmic (Potential).				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity				0					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GTAGAAGATGCAACCGAATAT	0.378												
ABCC11	85320	broad.mit.edu	37	16	48210854	48210854	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:48210854G>A	uc002eff.1	-	24	3869	c.3519C>T	c.(3517-3519)ATC>ATT	p.I1173I	ABCC11_uc002efg.1_Silent_p.I1173I|ABCC11_uc002efh.1_Silent_p.I1173I|ABCC11_uc010cbg.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1173	ABC transporter 2.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCCTTCCCACGATGCCCACCA	0.547									Cerumen_Type			
ADCY7	113	broad.mit.edu	37	16	50345665	50345665	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:50345665T>C	uc002egd.1	+	19	2684	c.2416T>C	c.(2416-2418)TTC>CTC	p.F806L		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	806	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCTGGTCCTGTTCTACATCAC	0.562												
BRD7	29117	broad.mit.edu	37	16	50388379	50388379	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:50388379G>A	uc002egf.1	-	5	470	c.403C>T	c.(403-405)CCC>TCC	p.P135S	BRD7_uc002ege.1_Missense_Mutation_p.P135S	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	135					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				TCTTGAAGGGGTGTCTGTTCT	0.308												
NOD2	64127	broad.mit.edu	37	16	50745609	50745609	+	Missense_Mutation	SNP	C	C	T	rs142077546		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:50745609C>T	uc002egm.1	+	4	1892	c.1787C>T	c.(1786-1788)ACG>ATG	p.T596M	NOD2_uc010cbk.1_Missense_Mutation_p.T569M|NOD2_uc002egl.1_Missense_Mutation_p.T374M|NOD2_uc010cbl.1_Missense_Mutation_p.T374M|NOD2_uc010cbm.1_Missense_Mutation_p.T374M|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	596	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				CCAGGGAGTACGGCGCCCCTG	0.572												
NOD2	64127	broad.mit.edu	37	16	50745900	50745900	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:50745900G>A	uc002egm.1	+	4	2183	c.2078G>A	c.(2077-2079)TGC>TAC	p.C693Y	NOD2_uc010cbk.1_Missense_Mutation_p.C666Y|NOD2_uc002egl.1_Missense_Mutation_p.C471Y|NOD2_uc010cbl.1_Missense_Mutation_p.C471Y|NOD2_uc010cbm.1_Missense_Mutation_p.C471Y|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	693					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				CTGGCTGAGTGCCAGACATCT	0.667												
SALL1	6299	broad.mit.edu	37	16	51174602	51174602	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:51174602A>G	uc010vgs.1	-	2	1562	c.1531T>C	c.(1531-1533)TAT>CAT	p.Y511H	SALL1_uc010vgr.1_Missense_Mutation_p.Y414H|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	511					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCACAGGATAGGGGTTCATC	0.517												
MMP2	4313	broad.mit.edu	37	16	55516934	55516934	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:55516934T>C	uc002ehz.3	+	2	578	c.267T>C	c.(265-267)CTT>CTC	p.L89L	MMP2_uc010vhd.1_Silent_p.L13L|MMP2_uc010ccc.2_Silent_p.L39L	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	89					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CAGGTGATCTTGACCAGAATA	0.537												
CES7	221223	broad.mit.edu	37	16	55907848	55907848	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:55907848C>T	uc002eip.2	-	2	324	c.175G>A	c.(175-177)GGA>AGA	p.G59R	CES7_uc002eio.2_Missense_Mutation_p.G59R|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_5'UTR	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	59						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)		AAGGGGACTCCGAGGAACACG	0.602												
ZNF319	57567	broad.mit.edu	37	16	58030556	58030556	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:58030556G>A	uc002emx.1	-	2	2237	c.1614C>T	c.(1612-1614)CGC>CGT	p.R538R		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACTGCTGCTCGCGGGCGTGCA	0.657												
NOL3	8996	broad.mit.edu	37	16	67208145	67208145	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:67208145G>A	uc010vjd.1	+	2	266	c.259G>A	c.(259-261)GCG>ACG	p.A87T	NOL3_uc010vjc.1_Missense_Mutation_p.A87T|NOL3_uc002erp.2_Missense_Mutation_p.A25T			O60936	NOL3_HUMAN	RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;	25	CARD.				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GACGCTGCAGGCGGACTCGGG	0.677												
PSKH1	5681	broad.mit.edu	37	16	67961375	67961375	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:67961375C>T	uc002euv.2	+	3	1275	c.1105C>T	c.(1105-1107)CGC>TGC	p.R369C		NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	369						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GAACCTGCACCGCTCCATATC	0.607												
CLEC18C	283971	broad.mit.edu	37	16	70219800	70219800	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:70219800C>T	uc002exy.2	+	12	1344	c.1224C>T	c.(1222-1224)TGC>TGT	p.C408C	CLEC18C_uc010vlt.1_Silent_p.C408C|CLEC18C_uc002eyk.2_Silent_p.C408C	NM_182619	NP_872425	Q8NCF0	CL18C_HUMAN	secretory protein LOC348174 precursor	408	C-type lectin.					extracellular region	sugar binding				0						TTGGCAACTGCGTGGAGCTGC	0.587												
CALB2	794	broad.mit.edu	37	16	71408718	71408718	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:71408718G>T	uc002faa.3	+	3	312	c.242G>T	c.(241-243)GGG>GTG	p.G81V	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.G81V	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	81	EF-hand 2.|2; possibly ancestral (Probable).						calcium ion binding				0		Ovarian(137;0.125)				AACTCAGATGGGAAAATCGAG	0.507												
DHODH	1723	broad.mit.edu	37	16	72055072	72055072	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:72055072C>T	uc002fbp.2	+	5	588	c.567C>T	c.(565-567)GAC>GAT	p.D189D	DHODH_uc010cgk.2_RNA	NM_001361	NP_001352	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase precursor	189	Mitochondrial intermembrane (By similarity).				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity				0		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CCTCAGTGGACGCCGCGGAGG	0.647												
HPR	3250	broad.mit.edu	37	16	72110827	72110827	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:72110827C>T	uc002fby.2	+	5	924	c.894C>T	c.(892-894)GGC>GGT	p.G298G	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	298	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)				GCGATGCGGGCAGTGCCTTTG	0.562												
DHX38	9785	broad.mit.edu	37	16	72131672	72131672	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:72131672G>A	uc002fcb.2	+	4	963	c.608G>A	c.(607-609)CGA>CAA	p.R203Q	DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	203					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)				CCACGACATCGACCTAAAGGT	0.498												
CHST5	23563	broad.mit.edu	37	16	75563424	75563424	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:75563424G>A	uc002fei.2	-	3	2254	c.859C>T	c.(859-861)CGC>TGC	p.R287C	CHST5_uc002fej.1_Missense_Mutation_p.R293C	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	287	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						TAGCGGCCGCGCAGGAAGGGT	0.716												
TERF2IP	54386	broad.mit.edu	37	16	75681914	75681914	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:75681914T>C	uc002fet.1	+	1	231	c.134T>C	c.(133-135)CTC>CCC	p.L45P	KARS_uc002fer.2_5'Flank|KARS_uc002feq.2_5'Flank|KARS_uc002fes.2_5'Flank|KARS_uc010cha.1_Intron	NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	45					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1						CTGTCGACGCTCATCCTGCAC	0.711												
MBTPS1	8720	broad.mit.edu	37	16	84132786	84132786	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:84132786G>T	uc002fhi.2	-	3	795	c.293C>A	c.(292-294)CCT>CAT	p.P98H		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	98					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2						AAAATCACTAGGGTAGTCACT	0.413												
FBXO31	79791	broad.mit.edu	37	16	87393913	87393913	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:87393913C>T	uc002fjw.2	-	2	444	c.400G>A	c.(400-402)GTC>ATC	p.V134I	FBXO31_uc010vot.1_5'UTR|FBXO31_uc002fjv.2_Missense_Mutation_p.V26I	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	134					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TTCGCATAGACGTCCCGACAA	0.398												
JPH3	57338	broad.mit.edu	37	16	87678559	87678559	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:87678559C>T	uc002fkd.2	+	2	1332	c.1078C>T	c.(1078-1080)CGC>TGC	p.R360C	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	360	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CAGCAAGATCCGCGAGAAGGT	0.672												
ZNF778	197320	broad.mit.edu	37	16	89294382	89294382	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:89294382A>G	uc002fmv.2	+	6	1941	c.1602A>G	c.(1600-1602)ATA>ATG	p.I534M	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.I492M|ZNF778_uc010vpg.1_Missense_Mutation_p.I297M	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	534	C2H2-type 12.			I -> T (in Ref. 1; BAB71183).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGCCCTTTATATGTACGGTAT	0.423												
CPNE7	27132	broad.mit.edu	37	16	89644042	89644042	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:89644042C>T	uc002fnp.2	+	2	400	c.270C>T	c.(268-270)CGC>CGT	p.R90R	CPNE7_uc002fnq.2_Silent_p.R90R	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	90	C2 1.				lipid metabolic process		transporter activity				0		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		AGAGGCTGCGCTTTGAGGTGT	0.637												
C16orf7	9605	broad.mit.edu	37	16	89776997	89776997	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:89776997C>T	uc002fom.1	-	10	1380	c.1255G>A	c.(1255-1257)GTA>ATA	p.V419I	C16orf7_uc002fol.1_Missense_Mutation_p.V349I|uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	419					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCCTCACCTACGGCATTGTGG	0.647												
TUBB3	10381	broad.mit.edu	37	16	89986352	89986352	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:89986352G>A	uc002fpf.2	+	1	1094	c.686G>A	c.(685-687)CGC>CAC	p.R229H	MC1R_uc002fpe.3_Missense_Mutation_p.R229H|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'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)		AAGAGGCAGCGCCCGGTCCAC	0.642												
GAS8	2622	broad.mit.edu	37	16	90106801	90106801	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:90106801C>T	uc002fqi.1	+	9	1227	c.1105C>T	c.(1105-1107)CGC>TGC	p.R369C	GAS8_uc010vps.1_Missense_Mutation_p.R344C|GAS8_uc002fqh.2_Missense_Mutation_p.R286C|GAS8_uc010vpv.1_Missense_Mutation_p.R340C|GAS8_uc010cjc.1_Missense_Mutation_p.R286C|GAS8_uc010vpw.1_Missense_Mutation_p.R286C|GAS8_uc002fqj.1_Missense_Mutation_p.R177C|LOC100130015_uc002fql.2_Missense_Mutation_p.V159I|uc002fqm.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	369	Potential.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CGTGCTAGAACGCAAGCTGCA	0.607												
PRPF8	10594	broad.mit.edu	37	17	1559716	1559716	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:1559716G>A	uc002fte.2	-	36	5877	c.5763C>T	c.(5761-5763)GAC>GAT	p.D1921D		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1921	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGAGCCAGTCGTCATAGAGGT	0.502												
HIC1	3090	broad.mit.edu	37	17	1961160	1961160	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:1961160G>A	uc010cjy.2	+	2	1233	c.1233G>A	c.(1231-1233)CCG>CCA	p.P411P	HIC1_uc002fty.3_Silent_p.P392P|HIC1_uc002ftz.3_Silent_p.P392P	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	411					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		ACCCCAGCCCGCCTGGCGGCC	0.687												
SMG6	23293	broad.mit.edu	37	17	2139842	2139842	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:2139842C>T	uc002fub.1	-	10	2868	c.2813G>A	c.(2812-2814)CGC>CAC	p.R938H	SMG6_uc010vqv.1_Missense_Mutation_p.R30H|uc002fuc.1_5'Flank	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	938					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						CTGCAGCATGCGGGTACTTCC	0.473												
TRPV3	162514	broad.mit.edu	37	17	3448468	3448468	+	Missense_Mutation	SNP	G	G	A	rs142677176		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:3448468G>A	uc002fvt.1	-	3	539	c.217C>T	c.(217-219)CGG>TGG	p.R73W	TRPV3_uc010vrh.1_Missense_Mutation_p.R57W|TRPV3_uc010vri.1_Missense_Mutation_p.R57W|TRPV3_uc010vrj.1_Missense_Mutation_p.R57W|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.R57W|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.R73W|TRPV3_uc002fvu.2_Missense_Mutation_p.R73W	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	73	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	CACCACTGCCGGATGTTGGAA	0.448												
GSG2	83903	broad.mit.edu	37	17	3629191	3629191	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:3629191C>T	uc002fwp.2	+	1	1995	c.1962C>T	c.(1960-1962)AAC>AAT	p.N654N	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	654	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						ACTGGGGGAACGTGCTCTTAA	0.527												
ANKFY1	51479	broad.mit.edu	37	17	4075853	4075853	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:4075853G>A	uc002fxq.1	-	22	3175	c.3137C>T	c.(3136-3138)ACG>ATG	p.T1046M	ANKFY1_uc002fxn.2_Missense_Mutation_p.T1088M|ANKFY1_uc002fxo.2_Missense_Mutation_p.T1047M|ANKFY1_uc002fxp.2_Missense_Mutation_p.T1045M|ANKFY1_uc010ckp.2_Missense_Mutation_p.T988M	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1046	ANK 21.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						GTACACACCCGTGCTGCCGTC	0.562												
TM4SF5	9032	broad.mit.edu	37	17	4686188	4686188	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:4686188C>T	uc002fyw.1	+	4	466	c.435C>T	c.(433-435)TGC>TGT	p.C145C		NM_003963	NP_003954	O14894	T4S5_HUMAN	transmembrane 4 superfamily member 5	145	Extracellular (Potential).					integral to plasma membrane				ovary(1)	1						GGGATCGGTGCGAGGCGCCCC	0.667												
SLC25A11	8402	broad.mit.edu	37	17	4841682	4841682	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:4841682C>T	uc002fzo.1	-	5	702	c.589G>A	c.(589-591)GCC>ACC	p.A197T	SLC25A11_uc002fzp.1_Missense_Mutation_p.A193T|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	solute carrier family 25 member 11 isoform 1	197	Helical; Name=4; (Potential).|Solcar 2.				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity				0						GCGAGCTGGGCAGCATTGACG	0.617												
DVL2	1856	broad.mit.edu	37	17	7132707	7132707	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7132707C>T	uc002gez.1	-	7	1089	c.807G>A	c.(805-807)ACG>ACA	p.T269T	DVL2_uc010vtr.1_Silent_p.T263T|DVL2_uc010vts.1_Missense_Mutation_p.A181T|DVL2_uc010clz.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	269	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						CCATGTTTAGCGTGACTGTGA	0.562												
KCTD11	147040	broad.mit.edu	37	17	7256302	7256302	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7256302C>T	uc002gge.3	+	1	1095	c.41C>T	c.(40-42)CCC>CTC	p.P14L	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	potassium channel tetramerisation domain	14	BTB.				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		Prostate(122;0.157)				CCCATGCCCCCCAACCTCAAT	0.612												
FXR2	9513	broad.mit.edu	37	17	7499231	7499231	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7499231C>T	uc002gia.1	-	8	969	c.742G>A	c.(742-744)GGT>AGT	p.G248S	FXR2_uc010vud.1_Missense_Mutation_p.G248S	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	248	KH 1.					cytosolic large ribosomal subunit	protein binding|RNA binding				0				READ - Rectum adenocarcinoma(115;0.17)		ATGTTGGCACCGTGAGTCCCA	0.552												
DNAH2	146754	broad.mit.edu	37	17	7734442	7734442	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7734442G>A	uc002giu.1	+	79	12283	c.12269G>A	c.(12268-12270)GGC>GAC	p.G4090D	DNAH2_uc010cnm.1_Missense_Mutation_p.G1028D	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	4090	TPR 4.				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)				CCCAAGGATGGCAGCCTCGCT	0.532												
KDM6B	23135	broad.mit.edu	37	17	7750706	7750706	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7750706C>G	uc002giw.1	+	10	1569	c.1193C>G	c.(1192-1194)ACC>AGC	p.T398S	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	398	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						GGCACCACCACcagcagcagc	0.582												
MYH10	4628	broad.mit.edu	37	17	8396256	8396256	+	Silent	SNP	C	C	T	rs35712248	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:8396256C>T	uc002gll.2	-	31	4299	c.4203G>A	c.(4201-4203)GCG>GCA	p.A1401A	MYH10_uc002glm.2_Silent_p.A1432A|MYH10_uc010cnx.2_Silent_p.A1410A	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1401	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						TCAGGGCCTCCGCGTCCTTCA	0.537												
USP43	124739	broad.mit.edu	37	17	9632150	9632150	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:9632150T>C	uc010cod.2	+	15	3215	c.3215T>C	c.(3214-3216)CTC>CCC	p.L1072P	USP43_uc002gma.3_Missense_Mutation_p.L761P|USP43_uc010vva.1_Missense_Mutation_p.L1067P|USP43_uc010coe.2_Missense_Mutation_p.L869P|USP43_uc002gmc.3_Missense_Mutation_p.L584P	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	1072					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TCTCTCCGCCTCCCTCGTAAA	0.652												
DNAH9	1770	broad.mit.edu	37	17	11597638	11597638	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:11597638A>T	uc002gne.2	+	22	4814	c.4746A>T	c.(4744-4746)AGA>AGT	p.R1582S	DNAH9_uc010coo.2_Missense_Mutation_p.R876S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1582	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGCCCTCAGATTGTGCCTGT	0.453												
DNAH9	1770	broad.mit.edu	37	17	11607737	11607737	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:11607737T>C	uc002gne.2	+	25	5437	c.5369T>C	c.(5368-5370)GTA>GCA	p.V1790A	DNAH9_uc010coo.2_Missense_Mutation_p.V1084A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1790	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGGGATGTGGTAGCCAAGATG	0.502												
DNAH9	1770	broad.mit.edu	37	17	11833395	11833395	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:11833395G>A	uc002gne.2	+	63	12158	c.12090G>A	c.(12088-12090)CTG>CTA	p.L4030L	DNAH9_uc010coo.2_Intron|DNAH9_uc002gnf.2_Silent_p.L342L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4030	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACAAGGCCCTGGACAACTTCA	0.597												
ZNF18	7566	broad.mit.edu	37	17	11896029	11896029	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:11896029C>T	uc002gng.1	-	4	723	c.118G>A	c.(118-120)GCA>ACA	p.A40T	ZNF18_uc002gnh.1_Missense_Mutation_p.A40T|ZNF18_uc002gni.1_Missense_Mutation_p.A40T	NM_144680	NP_653281	P17022	ZNF18_HUMAN	zinc finger protein 18	40					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGCTGGCGTGCGGTCTCAGGG	0.582												
RICH2	9912	broad.mit.edu	37	17	12847430	12847430	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:12847430C>T	uc002gnr.3	+	10	1105	c.778C>T	c.(778-780)CAC>TAC	p.H260Y	RICH2_uc010vvk.1_Missense_Mutation_p.H260Y|RICH2_uc010vvl.1_Missense_Mutation_p.H260Y|RICH2_uc002gns.3_Missense_Mutation_p.H60Y|RICH2_uc010vvm.1_Missense_Mutation_p.H260Y|RICH2_uc010vvn.1_RNA|RICH2_uc002gnt.1_5'UTR	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	260	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						GCTGGAGGAGCACCTCACCAT	0.602												
COX10	1352	broad.mit.edu	37	17	14110514	14110514	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:14110514G>T	uc002gof.3	+	7	1520	c.1316G>T	c.(1315-1317)GGG>GTG	p.G439V	COX10_uc010vvs.1_Missense_Mutation_p.G222V|COX10_uc010vvt.1_Missense_Mutation_p.G247V	NM_001303	NP_001294	Q12887	COX10_HUMAN	heme A:farnesyltransferase precursor	439					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity				0		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GGGGACGCAGGGCCCCCTCCC	0.642												
RAI1	10743	broad.mit.edu	37	17	17699623	17699623	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:17699623A>G	uc002grm.2	+	3	3830	c.3361A>G	c.(3361-3363)AGC>GGC	p.S1121G	RAI1_uc002grn.1_Missense_Mutation_p.S1121G	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1121						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GGCCTCCGACAGCAGCCCGAT	0.672												
DRG2	1819	broad.mit.edu	37	17	18004893	18004893	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:18004893C>T	uc002gsh.1	+	8	773	c.718C>T	c.(718-720)CCC>TCC	p.P240S	DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.P240S	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	240					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					GGTGTACATGCCCTGCCTGTA	0.572												
ALDOC	230	broad.mit.edu	37	17	26900838	26900838	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:26900838G>A	uc002hbp.2	-	8	1059	c.914C>T	c.(913-915)GCC>GTC	p.A305V	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Missense_Mutation_p.A277V	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	305					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					GGCTTGCAGGGCACGCCCATA	0.612												
KIAA0100	9703	broad.mit.edu	37	17	26943948	26943948	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:26943948G>A	uc002hbu.2	-	34	6079	c.5980C>T	c.(5980-5982)CGG>TGG	p.R1994W	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_RNA|KIAA0100_uc002hbt.2_Missense_Mutation_p.R323W	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1994						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ACAGGGGGCCGAACTTTGCTG	0.542												
KIAA0100	9703	broad.mit.edu	37	17	26961787	26961787	+	Missense_Mutation	SNP	G	G	A	rs117034424		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:26961787G>A	uc002hbu.2	-	16	2917	c.2818C>T	c.(2818-2820)CGC>TGC	p.R940C		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	940						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					ATGTTTTTGCGTTCCAAAGAG	0.527												
PHF12	57649	broad.mit.edu	37	17	27240131	27240131	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:27240131T>C	uc002hdg.1	-	9	1988	c.1458A>G	c.(1456-1458)ACA>ACG	p.T486T	PHF12_uc010wbb.1_Silent_p.T468T|PHF12_uc002hdi.1_Silent_p.T482T|PHF12_uc002hdj.1_Silent_p.T486T|PHF12_uc010crw.1_Silent_p.T189T|PHF12_uc002hdh.1_Silent_p.T269T	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	486	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)			AAGGTGTAGGTGTCTTGTCAG	0.547												
SEZ6	124925	broad.mit.edu	37	17	27308950	27308950	+	Missense_Mutation	SNP	C	C	T	rs61737975	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:27308950C>T	uc002hdp.2	-	2	357	c.163G>A	c.(163-165)GTC>ATC	p.V55I	SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.V55I|SEZ6_uc002hdq.1_5'UTR|SEZ6_uc010crz.1_Missense_Mutation_p.V55I	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	55	Extracellular (Potential).					integral to membrane|plasma membrane				large_intestine(1)|central_nervous_system(1)	2	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ACAAAGTGGACGCCTCGTTCT	0.592												
C17orf79	55352	broad.mit.edu	37	17	30180010	30180010	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:30180010C>T	uc002hgp.2	-	3	314	c.206G>A	c.(205-207)CGG>CAG	p.R69Q	C17orf79_uc010css.2_RNA	NM_018405	NP_060875	Q9NQ92	COPR5_HUMAN	chromosome 17 open reading frame 79	69					histone H4-R3 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding				0		all_cancers(10;4.54e-07)|all_hematologic(16;0.0216)|Acute lymphoblastic leukemia(14;0.0255)|Myeloproliferative disorder(56;0.0393)|Ovarian(249;0.1)				GCCCTCACCCCGGGCAGGACT	0.512												
UTP6	55813	broad.mit.edu	37	17	30213045	30213045	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:30213045G>A	uc002hgr.2	-	9	740	c.657C>T	c.(655-657)GGC>GGT	p.G219G	UTP6_uc002hgq.2_Silent_p.G35G|UTP6_uc010cst.2_Silent_p.G68G|UTP6_uc010wbw.1_Silent_p.G219G	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	219					rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				ATGCCAACTCGCCCTTAAGGA	0.338												
TMEM132E	124842	broad.mit.edu	37	17	32908129	32908129	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:32908129G>A	uc002hif.2	+	1	362	c.34G>A	c.(34-36)GCC>ACC	p.A12T	C17orf102_uc002hie.1_5'Flank	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	12						integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		cggcggcgccgcccTGCTCTG	0.637												
SLFN11	91607	broad.mit.edu	37	17	33690360	33690360	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:33690360C>T	uc010ctp.2	-	4	909	c.467G>A	c.(466-468)AGG>AAG	p.R156K	SLFN11_uc010ctq.2_Missense_Mutation_p.R156K|SLFN11_uc002hjh.3_Missense_Mutation_p.R156K|SLFN11_uc002hjg.3_Missense_Mutation_p.R156K|SLFN11_uc010ctr.2_Missense_Mutation_p.R156K	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	156						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTTGGCTTCCTTTTGGTCTT	0.478												
GAS2L2	246176	broad.mit.edu	37	17	34074067	34074067	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:34074067C>T	uc002hjv.1	-	5	1081	c.1053G>A	c.(1051-1053)ACG>ACA	p.T351T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	351					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGAGGCCCCCGTCCCTGCTC	0.607												
LHX1	3975	broad.mit.edu	37	17	35298007	35298007	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:35298007G>A	uc002hnh.1	+	3	1494	c.498G>A	c.(496-498)GCG>GCA	p.A166A	LHX1_uc010cux.1_Silent_p.A74A	NM_005568	NP_005559	P48742	LHX1_HUMAN	LIM homeobox protein 1	166					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(25;0.00607)				ACAAGGAAGCGGGTAGCAACG	0.647												
SYNRG	11276	broad.mit.edu	37	17	35902432	35902432	+	Silent	SNP	C	C	T	rs148591048	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:35902432C>T	uc002hoa.2	-	15	2927	c.2844G>A	c.(2842-2844)ACG>ACA	p.T948T	SYNRG_uc010wde.1_Silent_p.T870T|SYNRG_uc010wdf.1_Silent_p.T870T|SYNRG_uc002hoc.2_Silent_p.T869T|SYNRG_uc002hoe.2_Silent_p.T870T|SYNRG_uc002hod.2_Silent_p.T825T|SYNRG_uc010wdg.1_Silent_p.T742T|SYNRG_uc002hob.2_Silent_p.T948T|SYNRG_uc002hof.2_Silent_p.T614T	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	948					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						TTACAAAGGTCGTTACTTTGG	0.443												
GPR179	440435	broad.mit.edu	37	17	36486853	36486853	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:36486853T>A	uc002hpz.2	-	11	2620	c.2599A>T	c.(2599-2601)AAG>TAG	p.K867*		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	867	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCCGCTCCTTTGCTTGCCGG	0.677												
MED24	9862	broad.mit.edu	37	17	38182512	38182512	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:38182512C>T	uc002htt.2	-	19	2195	c.1882G>A	c.(1882-1884)GTC>ATC	p.V628I	MED24_uc010wer.1_5'Flank|MED24_uc010wes.1_Missense_Mutation_p.V488I|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.V653I|MED24_uc002htu.2_Missense_Mutation_p.V615I|MED24_uc010cwn.2_Missense_Mutation_p.V615I|MED24_uc010weu.1_Missense_Mutation_p.V538I|MED24_uc010wev.1_Missense_Mutation_p.V578I|MED24_uc010wew.1_Missense_Mutation_p.V569I|SNORD124_uc010wey.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	628					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					AGCATCCGGACGTGGGCCACA	0.552												
JUP	3728	broad.mit.edu	37	17	39923746	39923746	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:39923746C>T	uc002hxq.2	-	5	1071	c.794G>A	c.(793-795)CGC>CAC	p.R265H	JUP_uc010wfs.1_Missense_Mutation_p.R265H|JUP_uc002hxr.2_Missense_Mutation_p.R265H|JUP_uc002hxs.2_Missense_Mutation_p.R265H	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	265	ARM 3.			VRLADGL -> CAGRRA (in Ref. 1; AAA64895).	adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GTCGGCCAGGCGCACGGCCAT	0.647												
DHX58	79132	broad.mit.edu	37	17	40255769	40255769	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:40255769T>C	uc002hyw.3	-	12	1834	c.1611A>G	c.(1609-1611)GCA>GCG	p.A537A	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Silent_p.A530A	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	537	Potential.				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)		CCCGCTGGGCTGCCTGGGCCG	0.652												
KAT2A	2648	broad.mit.edu	37	17	40265758	40265758	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:40265758T>C	uc002hyx.2	-	18	2483	c.2423A>G	c.(2422-2424)AAC>AGC	p.N808S	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	808	Bromo.				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						GTCCGGGGGGTTGTACTCGCG	0.597												
RAB5C	5878	broad.mit.edu	37	17	40282409	40282409	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:40282409C>T	uc002hyz.2	-	3	429	c.112G>A	c.(112-114)GTC>ATC	p.V38I	RAB5C_uc002hza.2_Missense_Mutation_p.V38I|RAB5C_uc010cxx.2_Missense_Mutation_p.V71I|RAB5C_uc010cxy.2_Intron	NM_201434	NP_958842	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family isoform a	38					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|skin(1)	2		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AAGCGGAGGACGAGGCTGGAT	0.577												
WNK4	65266	broad.mit.edu	37	17	40936457	40936457	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:40936457G>C	uc002ibj.2	+	4	1051	c.1030G>C	c.(1030-1032)GCC>CCC	p.A344P	WNK4_uc010wgx.1_Missense_Mutation_p.W37C|WNK4_uc002ibk.1_Missense_Mutation_p.A116P|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	344	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGAATTCATGGCCCCCGAGAT	0.612												
MEOX1	4222	broad.mit.edu	37	17	41720878	41720878	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:41720878T>C	uc002idz.2	-	2	649	c.620A>G	c.(619-621)AAC>AGC	p.N207S	MEOX1_uc002iea.2_Intron|MEOX1_uc002ieb.2_Missense_Mutation_p.N92S	NM_004527	NP_004518	P50221	MEOX1_HUMAN	mesenchyme homeobox 1 isoform 1	207	Homeobox.					nucleus	sequence-specific DNA binding				0		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GAGGTCCAGGTTTACCGCAAT	0.423												
EFTUD2	9343	broad.mit.edu	37	17	42937314	42937314	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:42937314G>T	uc002ihn.2	-	18	2080	c.1819C>A	c.(1819-1821)CTG>ATG	p.L607M	EFTUD2_uc010wje.1_Missense_Mutation_p.L572M|EFTUD2_uc010wjf.1_Missense_Mutation_p.L597M	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	607						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				ACCTTGCGCAGGCCATCAAGC	0.552												
KIF18B	146909	broad.mit.edu	37	17	43006324	43006324	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:43006324G>A	uc010wji.1	-	12	1723	c.1622C>T	c.(1621-1623)ACG>ATG	p.T541M	KIF18B_uc002iht.2_Missense_Mutation_p.T541M|KIF18B_uc010wjh.1_Missense_Mutation_p.T529M	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				CATGTCGGGCGTCAGGAGGTT	0.587												
PLCD3	113026	broad.mit.edu	37	17	43198673	43198673	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:43198673C>T	uc002iib.2	-	2	344	c.230G>A	c.(229-231)CGC>CAC	p.R77H		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	77	PH.|Substrate binding (By similarity).				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	GTGCCACGTGCGCGAGCGGAT	0.731												
WNT3	7473	broad.mit.edu	37	17	44847269	44847269	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:44847269G>A	uc002ikv.2	-	3	587	c.468C>T	c.(466-468)GGC>GGT	p.G156G		NM_030753	NP_110380	P56703	WNT3_HUMAN	wingless-type MMTV integration site family,	156					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CGCTGCAGCCGCCCCACTTCC	0.672												
HOXB8	3218	broad.mit.edu	37	17	46691692	46691692	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:46691692G>A	uc002inw.2	-	1	610	c.375C>T	c.(373-375)TCC>TCT	p.S125S		NM_024016	NP_076921	P17481	HXB8_HUMAN	homeobox B8	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGCTCTGCTCGGAGCCCTCGG	0.701												
B4GALNT2	124872	broad.mit.edu	37	17	47247085	47247085	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:47247085G>A	uc002ion.2	+	11	1755	c.1696G>A	c.(1696-1698)GCA>ACA	p.A566T	B4GALNT2_uc010wlt.1_Missense_Mutation_p.A480T|B4GALNT2_uc010wlu.1_Missense_Mutation_p.A506T	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	566	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			CCAATGTGCCGCATAAAGGTG	0.512												
DLX3	1747	broad.mit.edu	37	17	48069029	48069029	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:48069029G>A	uc002ipy.2	-	3	942	c.716C>T	c.(715-717)GCC>GTC	p.A239V		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	239						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTGGGGGAGGCACTGTATGG	0.667												
ITGA3	3675	broad.mit.edu	37	17	48154746	48154746	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:48154746G>A	uc010dbl.2	+	16	2538	c.2074G>A	c.(2074-2076)GGG>AGG	p.G692R	ITGA3_uc010dbm.2_Missense_Mutation_p.G692R	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	692	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						TCCTCAGCCCGGGGCCTGCCA	0.592												
CACNA1G	8913	broad.mit.edu	37	17	48655834	48655834	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:48655834G>A	uc002irk.1	+	9	2582	c.2210G>A	c.(2209-2211)CGA>CAA	p.R737Q	CACNA1G_uc002iri.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irj.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R737Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R737Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R737Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R650Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R650Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R650Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R650Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R650Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R650Q	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	737	Cytoplasmic (Potential).|II.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GACACCTTCCGAAAGATTGTG	0.597												
ANKRD40	91369	broad.mit.edu	37	17	48777241	48777241	+	Missense_Mutation	SNP	A	A	T	rs145395652		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:48777241A>T	uc002iso.2	-	3	552	c.297T>A	c.(295-297)GAT>GAA	p.D99E		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	99	Poly-Asp.										0			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			catcatcatcatcTTCTTCTT	0.358												
WFIKKN2	124857	broad.mit.edu	37	17	48918270	48918270	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:48918270C>T	uc002isv.3	+	2	2315	c.1621C>T	c.(1621-1623)CGC>TGC	p.R541C	WFIKKN2_uc010dbu.2_Missense_Mutation_p.R448C	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	541	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCCATGCTGCGCCCCGATAG	0.622												
COX11	1353	broad.mit.edu	37	17	53045966	53045966	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:53045966G>T	uc010wng.1	-	1	99	c.42C>A	c.(40-42)TTC>TTA	p.F14L	STXBP4_uc010dcc.1_5'Flank|STXBP4_uc002iuf.1_5'Flank|STXBP4_uc010dcd.1_5'Flank|COX11_uc010wne.1_RNA|COX11_uc010wnf.1_RNA|COX11_uc002iue.2_RNA|COX11_uc010wnh.1_Missense_Mutation_p.F14L	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	COX11 homolog, cytochrome c oxidase assembly	14					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			ovary(1)	1						GCCAGCCACAGAAAGGAACGC	0.617												
TMEM100	55273	broad.mit.edu	37	17	53798224	53798224	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:53798224C>T	uc002iuj.3	-	2	519	c.208G>A	c.(208-210)GTG>ATG	p.V70M	TMEM100_uc002iuk.3_Missense_Mutation_p.V70M	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	70	Helical; (Potential).					integral to membrane					0						GCGGTGACCACGATGCCGGCG	0.527												
AKAP1	8165	broad.mit.edu	37	17	55184399	55184399	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:55184399C>T	uc002iux.2	+	2	1805	c.1574C>T	c.(1573-1575)TCG>TTG	p.S525L	AKAP1_uc010wnl.1_Missense_Mutation_p.S525L|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.S525L	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	525					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					GAGACCAGCTCGAGCCCCAGG	0.572												
BZRAP1	9256	broad.mit.edu	37	17	56386100	56386100	+	Silent	SNP	G	G	A	rs138510032		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:56386100G>A	uc002ivx.3	-	22	5404	c.4533C>T	c.(4531-4533)AGC>AGT	p.S1511S	BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Silent_p.S1451S|BZRAP1_uc010wnt.1_Silent_p.S1511S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1511						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGATGCCCCCGCTGCCCGCCT	0.637												
C17orf47	284083	broad.mit.edu	37	17	56620563	56620563	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:56620563T>C	uc002iwq.1	-	1	1121	c.985A>G	c.(985-987)AGC>GGC	p.S329G	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	329										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAACCTCGCTGTTTCCTCGG	0.537												
RNFT1	51136	broad.mit.edu	37	17	58040394	58040394	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:58040394A>G	uc002iya.2	-	2	401	c.308T>C	c.(307-309)GTC>GCC	p.V103A	uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.V103A|RNFT1_uc002iyd.3_Missense_Mutation_p.V103A	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	PTD016 protein	103						integral to membrane	zinc ion binding				0	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			ACAGCTATGGACACCTGACCT	0.473												
TEX2	55852	broad.mit.edu	37	17	62290289	62290289	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:62290289G>A	uc002jec.2	-	2	1462	c.1289C>T	c.(1288-1290)ACG>ATG	p.T430M	TEX2_uc002jed.2_Missense_Mutation_p.T430M|TEX2_uc002jee.2_Missense_Mutation_p.T430M	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	430					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTCCCCCTCCGTTTCCAAATC	0.468												
CACNG1	786	broad.mit.edu	37	17	65040940	65040940	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:65040940G>A	uc002jfu.2	+	1	235	c.164G>A	c.(163-165)CGG>CAG	p.R55Q		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	55					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GGCCTCTGGCGGATTTGTACC	0.657												
ABCA5	23461	broad.mit.edu	37	17	67287378	67287378	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:67287378C>T	uc002jif.2	-	11	2803	c.1585G>A	c.(1585-1587)GGA>AGA	p.G529R	ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.G529R|ABCA5_uc002jih.2_Missense_Mutation_p.G529R|ABCA5_uc010dfe.2_Missense_Mutation_p.G529R	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	529	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					GGGCAGAGTCCACAAAGAATA	0.338												
KIF19	124602	broad.mit.edu	37	17	72348411	72348411	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:72348411C>T	uc002jkm.3	+	14	2050	c.1912C>T	c.(1912-1914)CGG>TGG	p.R638W	KIF19_uc002jkl.2_Missense_Mutation_p.R596W	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	kinesin family member 19	638					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0						AGTGTACCTGCGGGAGCTGGA	0.697												
BTBD17	388419	broad.mit.edu	37	17	72353317	72353317	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:72353317C>T	uc002jkn.2	-	3	916	c.916G>A	c.(916-918)GTC>ATC	p.V306I		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	306						extracellular region					0						CTGCCGTTGACGTCGAAGAAC	0.726												
C17orf28	283987	broad.mit.edu	37	17	72954478	72954478	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:72954478G>A	uc002jmj.3	-	11	1485	c.1336C>T	c.(1336-1338)CGC>TGC	p.R446C	C17orf28_uc010wrs.1_Missense_Mutation_p.R245C	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	446						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					ATGGGCACGCGGATTGAGTAG	0.642											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CASKIN2	57513	broad.mit.edu	37	17	73502463	73502463	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:73502463G>A	uc002joc.2	-	8	1199	c.649C>T	c.(649-651)CGC>TGC	p.R217C	CASKIN2_uc010wsc.1_Missense_Mutation_p.R135C|CASKIN2_uc002jod.2_Missense_Mutation_p.R217C	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	217	ANK 5.					cytoplasm				pancreas(1)	1	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;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGTCTGGCGGTTGATCTCG	0.677												
ITGB4	3691	broad.mit.edu	37	17	73746884	73746884	+	Missense_Mutation	SNP	G	G	A	rs75129664	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:73746884G>A	uc002jpg.2	+	29	3785	c.3598G>A	c.(3598-3600)GGG>AGG	p.G1200R	ITGB4_uc002jph.2_Missense_Mutation_p.G1200R|ITGB4_uc002jpi.3_Missense_Mutation_p.G1200R|ITGB4_uc002jpj.2_Missense_Mutation_p.G1200R	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1200	Fibronectin type-III 1.|Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGCGCCTACGGGGCTCAGGG	0.627												
EVPL	2125	broad.mit.edu	37	17	74015720	74015720	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:74015720G>A	uc002jqi.2	-	10	1254	c.1026C>T	c.(1024-1026)GCC>GCT	p.A342A	EVPL_uc010wss.1_Silent_p.A342A|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	342	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TGACTGAGTCGGCCTCTTCCT	0.617												
UBE2O	63893	broad.mit.edu	37	17	74401599	74401599	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:74401599G>C	uc002jrm.3	-	2	538	c.473C>G	c.(472-474)TCC>TGC	p.S158C	UBE2O_uc002jrn.3_Missense_Mutation_p.S158C	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	158							ATP binding|ubiquitin-protein ligase activity			breast(2)|skin(2)|lung(1)	5						ACTCACGGTGGATCGCATGTG	0.602												
SEPT9	10801	broad.mit.edu	37	17	75483595	75483595	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:75483595C>T	uc002jts.3	+	5	1129	c.1003C>T	c.(1003-1005)CGC>TGC	p.R335C	SEPT9_uc010wtk.1_Missense_Mutation_p.R316C|SEPT9_uc002jtt.3_Missense_Mutation_p.R171C|SEPT9_uc002jtu.3_Missense_Mutation_p.R317C|SEPT9_uc002jtv.2_Missense_Mutation_p.R328C|SEPT9_uc002jtw.2_Missense_Mutation_p.R171C|SEPT9_uc010wtl.1_Missense_Mutation_p.R111C|SEPT9_uc002jty.3_Missense_Mutation_p.R84C|SEPT9_uc010wtm.1_Missense_Mutation_p.R84C|SEPT9_uc010wtn.1_Missense_Mutation_p.R84C|SEPT9_uc010dhd.2_Missense_Mutation_p.R223C	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	335					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)			CTCAGAGGAGCGCATCCCCAA	0.612												
DNAH17	8632	broad.mit.edu	37	17	76565605	76565605	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:76565605C>T	uc002jvv.1	-	4	261	c.155G>A	c.(154-156)CGA>CAA	p.R52Q						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGAAGGTTCGTGTCTGGGC	0.557												
TBC1D16	125058	broad.mit.edu	37	17	77926509	77926509	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:77926509G>A	uc002jxj.2	-	4	1004	c.888C>T	c.(886-888)TGC>TGT	p.C296C	TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	296						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGAACACGCCGCAAATCTGCT	0.677												
C17orf56	146705	broad.mit.edu	37	17	79203003	79203003	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:79203003C>T	uc002jzu.1	-	12	1325	c.1303G>A	c.(1303-1305)GAG>AAG	p.E435K	C17orf56_uc002jzr.1_Missense_Mutation_p.E105K|C17orf56_uc002jzs.1_Missense_Mutation_p.E351K|C17orf56_uc002jzt.1_Missense_Mutation_p.E351K|C17orf56_uc002jzv.1_Missense_Mutation_p.E283K|uc002jzw.1_RNA	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	435						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGTCTGGCCTCGGCCTCGCTG	0.701												
BAHCC1	57597	broad.mit.edu	37	17	79426602	79426602	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:79426602A>G	uc002kaf.2	+	21	5877	c.5877A>G	c.(5875-5877)CGA>CGG	p.R1959R	BAHCC1_uc002kae.2_Silent_p.R1189R	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	1959							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			AGAAGTCTCGATGTCTGTACC	0.667												
DUS1L	64118	broad.mit.edu	37	17	80019777	80019777	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:80019777C>T	uc002kdq.2	-	5	1012	c.593G>A	c.(592-594)CGG>CAG	p.R198Q	DUS1L_uc002kdp.2_Missense_Mutation_p.R67Q|DUS1L_uc002kdr.2_Missense_Mutation_p.R198Q|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA|DUS1L_uc010wvi.1_Missense_Mutation_p.R181Q	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	198					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ACCCACTCACCGCACAGCCTT	0.652												
ZNF750	79755	broad.mit.edu	37	17	80789298	80789298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:80789298G>A	uc002kga.2	-	2	1344	c.1033C>T	c.(1033-1035)CAG>TAG	p.Q345*	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	345						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGAGCTCTGATCTCGGGTG	0.537												
ENOSF1	55556	broad.mit.edu	37	18	677834	677834	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:677834C>T	uc002kku.3	-	13	1032	c.957G>A	c.(955-957)GCG>GCA	p.A319A	ENOSF1_uc002kkt.3_Silent_p.A237A|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Silent_p.A326A|ENOSF1_uc002kkv.3_Silent_p.A306A|ENOSF1_uc002kkw.3_Silent_p.A138A|ENOSF1_uc002kkx.3_Silent_p.A243A	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	319					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						GCAGGGCCTTCGCCTGTAGGA	0.448												
LAMA1	284217	broad.mit.edu	37	18	6948434	6948434	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:6948434G>A	uc002knm.2	-	60	8772	c.8678C>T	c.(8677-8679)ACA>ATA	p.T2893I	LAMA1_uc002knk.2_Missense_Mutation_p.T223I|LAMA1_uc002knl.2_Missense_Mutation_p.T346I|LAMA1_uc010wzj.1_Missense_Mutation_p.T2369I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2893	Laminin G-like 5.				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)	GTCAAAGTATGTTCCTTCCTG	0.527												
VAPA	9218	broad.mit.edu	37	18	9931900	9931900	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:9931900G>A	uc002kok.2	+	2	472	c.173G>A	c.(172-174)CGG>CAG	p.R58Q	VAPA_uc002koj.2_Missense_Mutation_p.R58Q	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN	vesicle-associated membrane protein-associated	58	Cytoplasmic (Potential).|MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity				0						GCACCTCGCCGGTACTGTGTG	0.413												
TUBB6	84617	broad.mit.edu	37	18	12326000	12326000	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:12326000T>C	uc002kqw.2	+	4	1257	c.1212T>C	c.(1210-1212)GAT>GAC	p.D404D	TUBB6_uc002kqv.2_Silent_p.D332D|TUBB6_uc002kqx.2_Silent_p.D367D|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	404					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		AGGGCATGGATGAAATGGAGT	0.587												
ABHD3	171586	broad.mit.edu	37	18	19263897	19263897	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:19263897G>A	uc002ktl.2	-	4	679	c.539C>T	c.(538-540)GCG>GTG	p.A180V	ABHD3_uc002ktm.2_Intron|ABHD3_uc010xao.1_RNA	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	180						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						ATTCTCCCCCGCCACTCCTCT	0.279												
NPC1	4864	broad.mit.edu	37	18	21123487	21123487	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:21123487C>A	uc002kum.3	-	14	2451	c.2177G>T	c.(2176-2178)AGG>ATG	p.R726M	NPC1_uc010xaz.1_Missense_Mutation_p.R459M|NPC1_uc010xba.1_Missense_Mutation_p.R571M	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	726	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCTAGGACCCTGCCCAGCTG	0.398												
ASXL3	80816	broad.mit.edu	37	18	31326159	31326159	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:31326159C>T	uc010dmg.1	+	12	6402	c.6347C>T	c.(6346-6348)GCG>GTG	p.A2116V	ASXL3_uc002kxq.2_Missense_Mutation_p.A1823V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AAAGCATTCGCGCTAAAAAGT	0.418												
ZNF397OS	100101467	broad.mit.edu	37	18	32843953	32843953	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:32843953T>C	uc002kym.2	-	2	592	c.364A>G	c.(364-366)ATG>GTG	p.M122V	ZNF397_uc010dmr.2_Intron|ZNF397OS_uc010xce.1_Missense_Mutation_p.M122V|ZNF397OS_uc002kyn.1_Missense_Mutation_p.M122V	NM_001112734	NP_001106205	Q86W11	ZSC30_HUMAN	zinc finger protein 397 opposite strand	122	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCCTCCAGCATAGTCACAGCT	0.493												
GALNT1	2589	broad.mit.edu	37	18	33243648	33243648	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:33243648G>A	uc010dmu.2	+	3	249	c.196G>A	c.(196-198)GTC>ATC	p.V66I	GALNT1_uc002kyz.3_Missense_Mutation_p.V6I|GALNT1_uc002kza.2_Missense_Mutation_p.V66I|GALNT1_uc002kzb.2_Missense_Mutation_p.V66I	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	66	Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						GAAACCAGTCGTCATTCCTAA	0.358												
CELF4	56853	broad.mit.edu	37	18	34854292	34854292	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:34854292G>A	uc002lae.2	-	6	1179	c.783C>T	c.(781-783)TAC>TAT	p.Y261Y	CELF4_uc010dnd.1_Silent_p.Y260Y|CELF4_uc002lag.2_Silent_p.Y251Y|CELF4_uc002laf.2_Silent_p.Y256Y|CELF4_uc002lai.2_Silent_p.Y246Y|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.R97W	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	261	Sufficient for RNA-binding and MSE- dependent splicing activity.|Ala-rich.				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						CGTAGGCGCCGTAGGCCCCGA	0.622												
ZBTB7C	201501	broad.mit.edu	37	18	45555704	45555704	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:45555704G>A	uc002lda.2	-	2	1803	c.1787C>T	c.(1786-1788)GCC>GTC	p.A596V	ZBTB7C_uc002ldb.2_Missense_Mutation_p.A596V|ZBTB7C_uc010dnu.2_Missense_Mutation_p.A605V|ZBTB7C_uc010dnv.2_Missense_Mutation_p.A618V|ZBTB7C_uc010dnw.2_Missense_Mutation_p.A596V	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	596						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						CAGGCCGGCGGCCCAAGGGTC	0.736												
LIPG	9388	broad.mit.edu	37	18	47095891	47095891	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:47095891G>A	uc002ldv.2	+	4	796	c.544G>A	c.(544-546)GTG>ATG	p.V182M	LIPG_uc002ldu.1_Missense_Mutation_p.V182M|LIPG_uc010xdh.1_Missense_Mutation_p.V182M	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	182					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						AGGCAACTTCGTGAAAGGAAC	0.557												
MYO5B	4645	broad.mit.edu	37	18	47402095	47402095	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:47402095G>A	uc002leb.2	-	26	3787	c.3499C>T	c.(3499-3501)CTG>TTG	p.L1167L	MYO5B_uc002lea.2_Silent_p.L308L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1167	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CTCTTCTCCAGCTGCACTTGC	0.527												
MBD2	8932	broad.mit.edu	37	18	51750524	51750524	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:51750524G>A	uc002lfg.1	-	1	635	c.406C>T	c.(406-408)CCG>TCG	p.P136S	MBD2_uc002lfh.1_Missense_Mutation_p.P136S|SNORA37_uc002lfi.1_5'Flank	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	136	Gly-rich.				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CTGGGCCCCGGCCCCGCGCTC	0.527												
WDR7	23335	broad.mit.edu	37	18	54358982	54358982	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:54358982G>A	uc002lgk.1	+	9	1111	c.900G>A	c.(898-900)GTG>GTA	p.V300V	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.V300V	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	300										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		GCAGTGATGTGGGGAAGGCAG	0.323												
ONECUT2	9480	broad.mit.edu	37	18	55143924	55143924	+	Missense_Mutation	SNP	C	C	T	rs3745073		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:55143924C>T	uc002lgo.2	+	2	1516	c.1484C>T	c.(1483-1485)TCG>TTG	p.S495L		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	495					organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GGGGGCTCCTCGTCCACCTCC	0.557												
NEDD4L	23327	broad.mit.edu	37	18	56001085	56001085	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:56001085T>C	uc002lgy.2	+	12	1300	c.1026T>C	c.(1024-1026)AGT>AGC	p.S342S	NEDD4L_uc002lgz.2_Silent_p.S342S|NEDD4L_uc002lgx.2_Silent_p.S342S|NEDD4L_uc010xee.1_Silent_p.S221S|NEDD4L_uc002lhc.2_Silent_p.S334S|NEDD4L_uc002lhd.2_Silent_p.S221S|NEDD4L_uc002lhb.2_Silent_p.S221S|NEDD4L_uc002lhe.2_Silent_p.S334S|NEDD4L_uc002lhf.2_Silent_p.S221S|NEDD4L_uc002lhg.2_Silent_p.S221S|NEDD4L_uc002lhh.2_Silent_p.S221S|NEDD4L_uc010dpm.1_Silent_p.S193S	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	342					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	p.S342I(1)		lung(4)	4						GGTCATGCAGTGTCACCGACG	0.438												
NEDD4L	23327	broad.mit.edu	37	18	56052795	56052795	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:56052795A>G	uc002lgy.2	+	26	2738	c.2464A>G	c.(2464-2466)AAG>GAG	p.K822E	NEDD4L_uc002lgz.2_Missense_Mutation_p.K758E|NEDD4L_uc002lgx.2_Missense_Mutation_p.K802E|NEDD4L_uc010xee.1_Missense_Mutation_p.K701E|NEDD4L_uc002lhc.2_Missense_Mutation_p.K814E|NEDD4L_uc002lhd.2_Missense_Mutation_p.K701E|NEDD4L_uc002lhb.2_Missense_Mutation_p.K681E|NEDD4L_uc002lhe.2_Missense_Mutation_p.K794E|NEDD4L_uc002lhf.2_Missense_Mutation_p.K681E|NEDD4L_uc002lhg.2_Missense_Mutation_p.K701E|NEDD4L_uc002lhh.2_Missense_Mutation_p.K597E|NEDD4L_uc010dpn.2_Missense_Mutation_p.K25E	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally	822	HECT.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4						CAGGGTCCAGAAGCAGATGAA	0.532												
ZNF532	55205	broad.mit.edu	37	18	56586743	56586743	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:56586743G>A	uc002lho.2	+	4	1771	c.1224G>A	c.(1222-1224)TCG>TCA	p.S408S	ZNF532_uc002lhp.2_Silent_p.S406S|ZNF532_uc010xeg.1_Silent_p.S406S|ZNF532_uc002lhr.2_Silent_p.S406S|ZNF532_uc002lhs.2_Silent_p.S406S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						CCCTTCTGTCGTCTCCAGCAT	0.587												
SERPINB4	6318	broad.mit.edu	37	18	61305210	61305210	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:61305210T>C	uc002ljf.2	-	8	1002	c.916A>G	c.(916-918)AAT>GAT	p.N306D	SERPINB4_uc002lje.2_Missense_Mutation_p.N285D|SERPINB4_uc002ljg.2_Missense_Mutation_p.N306D	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	306					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						TTGAAGATATTCACCATTCCC	0.478												
CDH7	1005	broad.mit.edu	37	18	63547804	63547804	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:63547804C>A	uc002ljz.2	+	12	2357	c.2032C>A	c.(2032-2034)CGA>AGA	p.R678R	CDH7_uc002lkb.2_Silent_p.R678R	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	678	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CAACGTCATCCGAGACACCAA	0.473												
DSEL	92126	broad.mit.edu	37	18	65181597	65181597	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:65181597A>G	uc002lke.1	-	2	1503	c.279T>C	c.(277-279)CAT>CAC	p.H93H		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	83						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				AAAGATGCAAATGGCTTGCAC	0.418												
RTTN	25914	broad.mit.edu	37	18	67684750	67684750	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:67684750A>G	uc002lkp.2	-	46	6382	c.6314T>C	c.(6313-6315)CTA>CCA	p.L2105P	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L1193P|RTTN_uc002lkn.2_Missense_Mutation_p.L95P|RTTN_uc010dqp.2_Missense_Mutation_p.L357P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	2105							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CATCTCTGTTAGTAAGTCTAG	0.393												
CNDP2	55748	broad.mit.edu	37	18	72173217	72173217	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:72173217G>A	uc002llm.1	+	4	500	c.338G>A	c.(337-339)AGC>AAC	p.S113N	CNDP2_uc002lln.1_Intron|CNDP2_uc002llo.2_Missense_Mutation_p.S113N|CNDP2_uc002llp.1_5'Flank	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	113						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGCTGGGACAGCGAGCCCTTC	0.617												
ZNF516	9658	broad.mit.edu	37	18	74091456	74091456	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:74091456C>T	uc010dqx.1	-	3	2849	c.2614G>A	c.(2614-2616)GGA>AGA	p.G872R	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CAGGGACCTCCGGAATGGCTC	0.642												
ZNF236	7776	broad.mit.edu	37	18	74561514	74561514	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:74561514A>G	uc002lmi.2	+	2	280	c.82A>G	c.(82-84)AAT>GAT	p.N28D	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.N28D	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	28					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGAGAACACTAATTATGCCTA	0.338												
SALL3	27164	broad.mit.edu	37	18	76753350	76753350	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:76753350C>T	uc002lmt.2	+	2	1359	c.1359C>T	c.(1357-1359)TGC>TGT	p.C453C	SALL3_uc010dra.2_Silent_p.C60C	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	453	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAACATCTGCGGGAACCGCT	0.607												
SALL3	27164	broad.mit.edu	37	18	76754298	76754298	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:76754298G>A	uc002lmt.2	+	2	2307	c.2307G>A	c.(2305-2307)ACG>ACA	p.T769T	SALL3_uc010dra.2_Silent_p.T376T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCCCAACACGCCGCTGCCGG	0.632												
CTDP1	9150	broad.mit.edu	37	18	77475506	77475506	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:77475506G>A	uc002lnh.1	+	8	2193	c.2046G>A	c.(2044-2046)ACG>ACA	p.T682T	CTDP1_uc002lni.1_Silent_p.T682T|CTDP1_uc010drd.1_Silent_p.T682T	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	682	BRCT.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACAGGGCCACGCACCTGATCG	0.672												
LPPR3	79948	broad.mit.edu	37	19	813080	813080	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:813080C>T	uc002lpx.1	-	8	1711	c.1647G>A	c.(1645-1647)CCG>CCA	p.P549P	LPPR3_uc010dru.1_Intron|LPPR3_uc002lpw.1_Silent_p.P577P|LPPR3_uc002lpy.1_Silent_p.P330P|hsa-mir-3187|MI0014231_5'Flank	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	549						integral to membrane	phosphatidate phosphatase activity				0						CCTTGGGGCCCGGCGCGCCCG	0.721												
LPPR3	79948	broad.mit.edu	37	19	813181	813181	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:813181G>A	uc002lpx.1	-	8	1610	c.1546C>T	c.(1546-1548)CGC>TGC	p.R516C	LPPR3_uc010dru.1_Missense_Mutation_p.R428C|LPPR3_uc002lpw.1_Missense_Mutation_p.R544C|LPPR3_uc002lpy.1_Missense_Mutation_p.R297C|hsa-mir-3187|MI0014231_5'Flank	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	516						integral to membrane	phosphatidate phosphatase activity				0						CACTTGGCGCGCACCCCGGCG	0.647												
AZU1	566	broad.mit.edu	37	19	830738	830738	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:830738G>A	uc002lpz.1	+	4	407	c.391G>A	c.(391-393)GTG>ATG	p.V131M		NM_001700	NP_001691	P20160	CAP7_HUMAN	azurocidin 1 preproprotein	131	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			pancreas(1)	1		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;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAGCAGCGTGACGATACT	0.682												
ABCA7	10347	broad.mit.edu	37	19	1043781	1043781	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:1043781A>G	uc002lqw.3	+	10	1219	c.988A>G	c.(988-990)ATG>GTG	p.M330V	ABCA7_uc010dsb.1_Missense_Mutation_p.M192V	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	330	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		GGTGTGGGAGATGCTGGGACC	0.632												
HMHA1	23526	broad.mit.edu	37	19	1080261	1080261	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:1080261G>A	uc002lqz.1	+	14	1942	c.1711G>A	c.(1711-1713)GTC>ATC	p.V571I	HMHA1_uc010xgd.1_Missense_Mutation_p.V587I|HMHA1_uc010xge.1_Missense_Mutation_p.V411I|HMHA1_uc002lra.1_Missense_Mutation_p.V411I|HMHA1_uc002lrb.1_Missense_Mutation_p.V454I|HMHA1_uc002lrc.1_Missense_Mutation_p.V206I|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	571					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)		TAGGTCCCCCGTCATGCGTGC	0.657												
HMHA1	23526	broad.mit.edu	37	19	1085954	1085954	+	Silent	SNP	C	C	T	rs140144151		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:1085954C>T	uc002lqz.1	+	23	3591	c.3360C>T	c.(3358-3360)GGC>GGT	p.G1120G	HMHA1_uc010xgd.1_Silent_p.G1136G|HMHA1_uc010xge.1_Silent_p.G988G|HMHA1_uc002lra.1_Silent_p.G960G|HMHA1_uc002lrb.1_Silent_p.G1003G|HMHA1_uc002lrc.1_Silent_p.G755G|HMHA1_uc002lrd.1_Silent_p.G196G|HMHA1_uc010dsd.1_Silent_p.G226G	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	1120					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)		GGCTCCGTGGCGGGCGGATGA	0.662												
APC2	10297	broad.mit.edu	37	19	1461988	1461988	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:1461988C>T	uc002lsr.1	+	14	1873	c.1665C>T	c.(1663-1665)AGC>AGT	p.S555S	APC2_uc002lss.1_Silent_p.S137S|APC2_uc002lst.1_Silent_p.S555S|APC2_uc002lsu.1_Silent_p.S554S|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	555	ARM 3.				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)		GCGTGCTGAGCGCCCTGTGGA	0.647												
MEX3D	399664	broad.mit.edu	37	19	1556729	1556729	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:1556729G>A	uc010dsn.2	-	2	789	c.789C>T	c.(787-789)GCC>GCT	p.A263A		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	263					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			lung(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)		GGCCCTGGGCGGCGCCGGGCA	0.711												
PIP5K1C	23396	broad.mit.edu	37	19	3633467	3633467	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:3633467C>G	uc002lyj.1	-	17	2029	c.1972G>C	c.(1972-1974)GCC>CCC	p.A658P	PIP5K1C_uc010xhq.1_Intron	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	658	Mediates interaction with TLN2.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCGGGGGGGCCTGGGCGCTA	0.706												
ZNRF4	148066	broad.mit.edu	37	19	5456475	5456475	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:5456475C>A	uc002mca.3	+	1	1050	c.973C>A	c.(973-975)CTG>ATG	p.L325M		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	325	RING-type; atypical.|Cytoplasmic (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACTCAAGATCCTGCCCTGCTC	0.627												
C3	718	broad.mit.edu	37	19	6697683	6697683	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:6697683G>A	uc002mfm.2	-	20	2625	c.2563C>T	c.(2563-2565)CGG>TGG	p.R855W		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	855					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGGTTCTGCCGGTAATTGTAG	0.572												
PNPLA6	10908	broad.mit.edu	37	19	7616251	7616251	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:7616251G>A	uc010xjq.1	+	20	2410	c.2215G>A	c.(2215-2217)GTG>ATG	p.V739M	PNPLA6_uc002mgq.1_Missense_Mutation_p.V691M|PNPLA6_uc010xjp.1_Missense_Mutation_p.V665M|PNPLA6_uc002mgr.1_Missense_Mutation_p.V691M|PNPLA6_uc002mgs.2_Missense_Mutation_p.V730M	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	730	Cytoplasmic (Potential).|cNMP 3.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						CCCCCAGGTCGTGACCCGCCT	0.632												
RETN	56729	broad.mit.edu	37	19	7735136	7735136	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:7735136C>T	uc002mhf.1	+	4	274	c.228C>T	c.(226-228)TCC>TCT	p.S76S	RETN_uc002mhg.1_Silent_p.S76S|RETN_uc010dvm.1_RNA	NM_020415	NP_065148	Q9HD89	RETN_HUMAN	resistin	76							hormone activity			ovary(1)	1						CTTGTGGCTCCGCCTGTGGCT	0.602												
FCER2	2208	broad.mit.edu	37	19	7754212	7754212	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:7754212C>T	uc002mhn.2	-	11	1017	c.833G>A	c.(832-834)GGC>GAC	p.G278D	FCER2_uc010xjs.1_Missense_Mutation_p.G200D|FCER2_uc010xjt.1_Missense_Mutation_p.G200D|FCER2_uc002mhm.2_Missense_Mutation_p.G278D	NM_002002	NP_001993	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor	278	C-type lectin.|Extracellular (Potential).				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding				0						CACCCAGGCGCCCAGCTTACG	0.697												
MUC16	94025	broad.mit.edu	37	19	9015691	9015691	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:9015691T>G	uc002mkp.2	-	29	38336	c.38132A>C	c.(38131-38133)AAG>ACG	p.K12711T	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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						CTCCTCGTACTTCAGGTTGGT	0.512												
OR7G2	390882	broad.mit.edu	37	19	9213230	9213230	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:9213230T>C	uc010xkk.1	-	1	753	c.753A>G	c.(751-753)TCA>TCG	p.S251S		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TTCCACTTGCTGATGGCATTC	0.453												
FBXL12	54850	broad.mit.edu	37	19	9922074	9922074	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:9922074C>T	uc002mme.2	-	3	721	c.479G>A	c.(478-480)CGC>CAC	p.R160H	FBXL12_uc002mmd.2_Missense_Mutation_p.R107H|FBXL12_uc002mmf.2_Missense_Mutation_p.R107H|FBXL12_uc002mmg.2_Missense_Mutation_p.R107H|FBXL12_uc002mmh.2_Missense_Mutation_p.R107H	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	160							protein binding			lung(1)|kidney(1)	2						GGCGGGGACGCGGTCCAGCAC	0.672												
OLFM2	93145	broad.mit.edu	37	19	9965426	9965426	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:9965426C>T	uc002mmp.2	-	6	829	c.801G>A	c.(799-801)GCG>GCA	p.A267A	OLFM2_uc002mmo.2_Silent_p.A189A	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	267	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						GGCCCGTGCCCGCCCACGGCT	0.587												
EIF3G	8666	broad.mit.edu	37	19	10227521	10227521	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10227521C>T	uc002mnd.2	-	7	614	c.550G>A	c.(550-552)GAG>AAG	p.E184K		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	184						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCCAGCTGCTCGGCCAGCTCC	0.662												
ICAM5	7087	broad.mit.edu	37	19	10401749	10401749	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10401749G>A	uc002mnu.3	+	2	149	c.84G>A	c.(82-84)GCG>GCA	p.A28A	ICAM5_uc002mnv.3_5'Flank	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	28					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)			CCTGGGCAGCGGTCTCGCAGG	0.677												
TYK2	7297	broad.mit.edu	37	19	10463110	10463110	+	Silent	SNP	C	C	T	rs140324156		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10463110C>T	uc002moc.3	-	23	3696	c.3318G>A	c.(3316-3318)ACG>ACA	p.T1106T	TYK2_uc010dxe.2_Silent_p.T921T	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1106	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGGCTCTCACCGTGGGGGGGC	0.468												
ATG4D	84971	broad.mit.edu	37	19	10662902	10662902	+	Missense_Mutation	SNP	C	C	T	rs150808873		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10662902C>T	uc002mov.2	+	9	1264	c.1144C>T	c.(1144-1146)CGC>TGC	p.R382C	ATG4D_uc010xlh.1_Missense_Mutation_p.R319C|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.R49C	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	APG4 autophagy 4 homolog D	382					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity				0			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CACCTCGCCCCGCAAGATGGC	0.622												
DNM2	1785	broad.mit.edu	37	19	10893768	10893768	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10893768C>T	uc002mps.1	+	6	985	c.821C>T	c.(820-822)ACG>ATG	p.T274M	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.T274M|DNM2_uc002mpv.1_Missense_Mutation_p.T274M|DNM2_uc002mpu.1_Missense_Mutation_p.T274M|DNM2_uc010dxl.1_Missense_Mutation_p.T274M|DNM2_uc002mpw.2_Missense_Mutation_p.T7M	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	274					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)			CGCATGGGCACGCCACATCTG	0.577												
SMARCA4	6597	broad.mit.edu	37	19	11144498	11144498	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:11144498C>T	uc002mqf.3	+	27	4114	c.3830C>T	c.(3829-3831)CCG>CTG	p.P1277L	SMARCA4_uc010dxp.2_Missense_Mutation_p.P1277L|SMARCA4_uc010dxo.2_Missense_Mutation_p.P1277L|SMARCA4_uc010dxq.2_Intron|SMARCA4_uc010dxr.2_Intron|SMARCA4_uc002mqj.3_Intron|SMARCA4_uc010dxs.2_Intron|SMARCA4_uc010dxt.1_Intron|SMARCA4_uc002mqh.3_Intron|SMARCA4_uc002mqi.1_Intron	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1277					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				actgcccctccgccagcgggc	0			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
BEST2	54831	broad.mit.edu	37	19	12866266	12866266	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:12866266C>T	uc002mux.2	+	5	710	c.710C>T	c.(709-711)ACG>ATG	p.T237M		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	237					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						CTCGTGTACACGCAGGTAACC	0.498												
CD97	976	broad.mit.edu	37	19	14508025	14508025	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:14508025C>A	uc002myl.2	+	6	738	c.615C>A	c.(613-615)ACC>ACA	p.T205T	CD97_uc002mym.2_Intron|CD97_uc002myn.2_Intron	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	205	Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						CAAACAATACCGTCTGTGAAG	0.582												
PTGER1	5731	broad.mit.edu	37	19	14584277	14584277	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:14584277G>A	uc002mys.2	-	2	974	c.856C>T	c.(856-858)CGC>TGC	p.R286C		NM_000955	NP_000946	P34995	PE2R1_HUMAN	prostaglandin E receptor 1, subtype EP1	286	Cytoplasmic (Potential).					integral to plasma membrane	prostaglandin E receptor activity				0					Alprostadil(DB00770)|Bimatoprost(DB00905)|Bupivacaine(DB00297)|Carboprost Tromethamine(DB00429)	CGAGCTCTGCGTGCCGAGCCG	0.697											OREG0025314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CLEC17A	388512	broad.mit.edu	37	19	14705584	14705584	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:14705584C>T	uc010dzn.1	+	7	452	c.375C>T	c.(373-375)GCC>GCT	p.A125A	CLEC17A_uc002mzh.1_Silent_p.A108A|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Silent_p.A125A|CLEC17A_uc010dzo.1_Silent_p.A125A			Q6ZS10	CL17A_HUMAN	SubName: Full=CLEC17A protein;	125	Cytoplasmic (Potential).					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity				0						TGGACCTCGCCGCTGTCACCT	0.517												
NOTCH3	4854	broad.mit.edu	37	19	15289695	15289695	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:15289695C>T	uc002nan.2	-	23	3852	c.3776G>A	c.(3775-3777)GGC>GAC	p.G1259D	NOTCH3_uc002nao.1_Missense_Mutation_p.G1207D	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1259	Extracellular (Potential).|EGF-like 32.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGGCACTGGCCTCCATGCTG	0.647												
BRD4	23476	broad.mit.edu	37	19	15383773	15383773	+	Silent	SNP	C	C	T	rs139655217		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:15383773C>T	uc002nar.2	-	2	360	c.138G>A	c.(136-138)CCG>CCA	p.P46P	BRD4_uc002nas.2_Silent_p.P46P|BRD4_uc002nat.3_Silent_p.P46P|BRD4_uc002nau.3_Silent_p.P46P	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	46					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCTCTGGGGGCGGGGGGTTGG	0.562			T	NUT|C15orf55	lethal midline carcinoma of young people							
CHERP	10523	broad.mit.edu	37	19	16632444	16632444	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:16632444G>A	uc002nei.1	-	12	2076	c.2002C>T	c.(2002-2004)CCT>TCT	p.P668S	MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.P207S	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	668	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GGGTCCAAAGGCTTGTACTCG	0.647												
MED26	9441	broad.mit.edu	37	19	16687474	16687474	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:16687474C>T	uc002nen.1	-	3	1428	c.1167G>A	c.(1165-1167)TCG>TCA	p.S389S	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	389					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			ovary(2)	2						TTTTACTGTCCGAGCCCCCTG	0.617												
CPAMD8	27151	broad.mit.edu	37	19	17038989	17038989	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:17038989G>A	uc002nfb.2	-	25	3373	c.3341C>T	c.(3340-3342)CCG>CTG	p.P1114L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1067						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						TGGTGGCCTCGGGAGGGTCCA	0.582												
MYO9B	4650	broad.mit.edu	37	19	17313032	17313032	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:17313032A>G	uc010eak.2	+	28	4908	c.4756A>G	c.(4756-4758)AAC>GAC	p.N1586D	MYO9B_uc002nfi.2_Missense_Mutation_p.N1586D|MYO9B_uc002nfj.1_Missense_Mutation_p.N1586D|MYO9B_uc002nfl.1_Missense_Mutation_p.N135D	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	1586	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						GAAGGACACCAACCTGGTCCT	0.547												
PLVAP	83483	broad.mit.edu	37	19	17476389	17476389	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:17476389T>C	uc002ngk.1	-	3	935	c.885A>G	c.(883-885)GAA>GAG	p.E295E		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	295	Potential.|Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						GGGCCACGCGTTCGATATCCG	0.657												
MAST3	23031	broad.mit.edu	37	19	18249863	18249863	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:18249863G>A	uc002nhz.3	+	19	2047	c.2047G>A	c.(2047-2049)GAC>AAC	p.D683N		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	683	AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						CTCCGAGGACGACGAGACCAA	0.622												
KLHL26	55295	broad.mit.edu	37	19	18778859	18778859	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:18778859C>T	uc002njz.1	+	3	679	c.652C>T	c.(652-654)CTG>TTG	p.L218L		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	218	BACK.									ovary(1)	1						GAGCAACCGGCTGCAGAGCTG	0.572												
ARMC6	93436	broad.mit.edu	37	19	19154850	19154850	+	Silent	SNP	C	C	T	rs151260905	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:19154850C>T	uc002nld.2	+	4	594	c.246C>T	c.(244-246)GAC>GAT	p.D82D	ARMC6_uc002nlc.2_Silent_p.D57D|ARMC6_uc010xql.1_Intron|ARMC6_uc002nle.2_Silent_p.D57D|ARMC6_uc010xqm.1_Silent_p.D82D	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	82							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TCTCTGCAGACGGATCCCAGG	0.567												
ZNF429	353088	broad.mit.edu	37	19	21719281	21719281	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:21719281C>T	uc002nqd.1	+	4	563	c.426C>T	c.(424-426)AGC>AGT	p.S142S	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TTACCCAGAGCAAAATGTATC	0.323												
ZNF536	9745	broad.mit.edu	37	19	30935279	30935279	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:30935279G>A	uc002nsu.1	+	2	948	c.810G>A	c.(808-810)CCG>CCA	p.P270P	ZNF536_uc010edd.1_Silent_p.P270P	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	270					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)					CGGTGGCCCCGGCGGCGGGCT	0.677												
ZNF536	9745	broad.mit.edu	37	19	31038892	31038892	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:31038892C>T	uc002nsu.1	+	4	2504	c.2366C>T	c.(2365-2367)ACG>ATG	p.T789M	ZNF536_uc010edd.1_Missense_Mutation_p.T789M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	789	C2H2-type 9.				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)					TATGCCGGCACGCAGTCAGCA	0.502												
TSHZ3	57616	broad.mit.edu	37	19	31770574	31770574	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:31770574G>A	uc002nsy.3	-	2	190	c.125C>T	c.(124-126)TCG>TTG	p.S42L		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	42					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)					GTACTTGGCCGAGGGCTCTCC	0.592												
RHPN2	85415	broad.mit.edu	37	19	33471104	33471104	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:33471104A>G	uc002nuf.2	-	15	1925	c.1859T>C	c.(1858-1860)TTA>TCA	p.L620S	RHPN2_uc010xro.1_Missense_Mutation_p.L469S|RHPN2_uc002nue.2_Missense_Mutation_p.L350S	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	620					signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					ATCAATGGCTAAGCAGATCAT	0.438												
CHST8	64377	broad.mit.edu	37	19	34263256	34263256	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:34263256A>G	uc002nus.3	+	5	1068	c.563A>G	c.(562-564)GAC>GGC	p.D188G	CHST8_uc002nut.3_Missense_Mutation_p.D188G|CHST8_uc002nuu.2_Missense_Mutation_p.D188G	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	188	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					TTCGTGGAGGACCGCCACCGC	0.706												
KRTDAP	388533	broad.mit.edu	37	19	35979354	35979354	+	Missense_Mutation	SNP	C	C	T	rs141811528		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:35979354C>T	uc002nzh.2	-	4	214	c.202G>A	c.(202-204)GCC>ACC	p.A68T		NM_207392	NP_997275	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	68					cell differentiation	extracellular region					0	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCAAAGAGGGCGTGCCAGTTC	0.582												
WDR62	284403	broad.mit.edu	37	19	36594611	36594611	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:36594611G>A	uc002odc.2	+	30	3957	c.3866G>A	c.(3865-3867)CGG>CAG	p.R1289Q	WDR62_uc002odd.2_Missense_Mutation_p.R1294Q	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1289	WD 15.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACGAGGCCCGGGCCAACCTG	0.652												
TBCB	1155	broad.mit.edu	37	19	36612466	36612466	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:36612466C>T	uc002odg.1	+	4	968	c.393C>T	c.(391-393)GGC>GGT	p.G131G	TBCB_uc002odh.1_Silent_p.G112G	NM_001281	NP_001272	Q99426	TBCB_HUMAN	cytoskeleton associated protein 1	131					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCAAGCTCGGCCGGTACAACG	0.701												
ZNF529	57711	broad.mit.edu	37	19	37038564	37038564	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:37038564C>T	uc002oeh.3	-	5	1098	c.896G>A	c.(895-897)CGA>CAA	p.R299Q	ZNF529_uc010xth.1_Missense_Mutation_p.R299Q|ZNF529_uc010xti.1_Missense_Mutation_p.R281Q|ZNF529_uc002oeg.3_Missense_Mutation_p.R194Q	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	266	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TTTCTGATGTCGAGTAAGTTG	0.383												
ZNF567	163081	broad.mit.edu	37	19	37210793	37210793	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:37210793T>C	uc010xtl.1	+	6	1389	c.1167T>C	c.(1165-1167)GGT>GGC	p.G389G	ZNF567_uc002oeo.1_Silent_p.G389G|ZNF567_uc010xtk.1_Silent_p.G389G|ZNF567_uc002oep.3_Silent_p.G358G|ZNF567_uc002oeq.1_Silent_p.G358G	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCCATACAGGTGAGAAACCCT	0.433												
ZNF568	374900	broad.mit.edu	37	19	37413725	37413725	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:37413725T>G	uc002ofc.2	+	3	568	c.53T>G	c.(52-54)TTG>TGG	p.L18W	ZNF568_uc010efg.2_Missense_Mutation_p.L4W|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Intron|ZNF568_uc010efe.2_Intron|ZNF568_uc010eff.1_Missense_Mutation_p.L4W	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGGAGCGTTTGAGCCACATG	0.478												
SIPA1L3	23094	broad.mit.edu	37	19	38590668	38590668	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:38590668C>T	uc002ohk.2	+	5	2241	c.1732C>T	c.(1732-1734)CGG>TGG	p.R578W		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	578					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGGACCGGGCGGGGCCTGCC	0.627												
GGN	199720	broad.mit.edu	37	19	38876364	38876364	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:38876364G>A	uc002oij.1	-	3	1673	c.1538C>T	c.(1537-1539)GCG>GTG	p.A513V	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.A430V	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	513	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gggtgcgggcgcggacacagg	0.249												
ACTN4	81	broad.mit.edu	37	19	39214837	39214837	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:39214837C>T	uc002oja.1	+	15	1792	c.1733C>T	c.(1732-1734)CCG>CTG	p.P578L	ACTN4_uc002ojb.1_5'Flank	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	578	Spectrin 3.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCACCCTGCCGGACGCCGAT	0.647												
SUPT5H	6829	broad.mit.edu	37	19	39963908	39963908	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:39963908C>T	uc002olo.3	+	24	2503	c.2324C>T	c.(2323-2325)ACG>ATG	p.T775M	SUPT5H_uc002olp.3_Missense_Mutation_p.T775M|SUPT5H_uc002olq.3_Missense_Mutation_p.T771M|SUPT5H_uc002oln.3_Missense_Mutation_p.T775M|SUPT5H_uc002olr.3_Missense_Mutation_p.T775M|SUPT5H_uc002ols.1_Missense_Mutation_p.T398M|SUPT5H_uc010egp.1_Silent_p.D140D	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	775	CTR1-4.|9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCTCCCAGACGCCCATGTAT	0.657												
DYRK1B	9149	broad.mit.edu	37	19	40317449	40317449	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:40317449G>A	uc002omj.2	-	9	1554	c.1274C>T	c.(1273-1275)GCT>GTT	p.A425V	DYRK1B_uc002omi.2_Missense_Mutation_p.A397V|DYRK1B_uc002omk.2_Missense_Mutation_p.A385V	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	425	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GTGCTGCAGAGCCCCCAGGGG	0.697												
FCGBP	8857	broad.mit.edu	37	19	40366367	40366367	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:40366367C>T	uc002omp.3	-	30	13875	c.13867G>A	c.(13867-13869)GAC>AAC	p.D4623N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4623	VWFD 11.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTTGAGGTCGTCTGCGGGG	0.697												
FCGBP	8857	broad.mit.edu	37	19	40398355	40398355	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:40398355C>T	uc002omp.3	-	14	6620	c.6612G>A	c.(6610-6612)GCG>GCA	p.A2204A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2204	VWFD 5.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGAGAGAGCCCGCGTACGCCG	0.706												
FCGBP	8857	broad.mit.edu	37	19	40421324	40421324	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:40421324C>A	uc002omp.3	-	5	2605	c.2597G>T	c.(2596-2598)GGG>GTG	p.G866V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	866	VWFD 2.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCCCCGGACCCCTGGCAGGT	0.687												
BLVRB	645	broad.mit.edu	37	19	40953837	40953837	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:40953837A>G	uc002onw.2	-	5	710	c.580T>C	c.(580-582)TAC>CAC	p.Y194H	BLVRB_uc010egw.1_RNA	NM_000713	NP_000704	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase	194					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity				0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	TGTCCGTCGTACTCATCGGTG	0.602												
CIC	23152	broad.mit.edu	37	19	42791355	42791355	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:42791355C>T	uc002otf.1	+	3	455	c.415C>T	c.(415-417)CGG>TGG	p.R139W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				AGGAGAGCCCCGGCTGGACAG	0.667			T	DUX4	soft tissue sarcoma							
LIPE	3991	broad.mit.edu	37	19	42930555	42930555	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:42930555C>T	uc002otr.2	-	1	1024	c.747G>A	c.(745-747)ACG>ACA	p.T249T	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	249					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				TTCCACCCATCGTGGCTGGAG	0.493												
IRGC	56269	broad.mit.edu	37	19	44223311	44223311	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:44223311C>T	uc002oxh.2	+	2	748	c.601C>T	c.(601-603)CGG>TGG	p.R201W		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	201						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				CTGTGCCGAGCGGCTGCGGGA	0.697												
ZNF227	7770	broad.mit.edu	37	19	44740715	44740715	+	Missense_Mutation	SNP	C	C	T	rs140684974		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:44740715C>T	uc002oyu.2	+	6	2337	c.2132C>T	c.(2131-2133)ACG>ATG	p.T711M	ZNF227_uc010xwu.1_Missense_Mutation_p.T660M|ZNF227_uc002oyv.2_Missense_Mutation_p.T711M|ZNF227_uc010xwv.1_Missense_Mutation_p.T660M|ZNF227_uc010xww.1_Missense_Mutation_p.T632M|ZNF227_uc002oyw.2_Missense_Mutation_p.T683M|ZNF227_uc010ejh.2_Missense_Mutation_p.T704M|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				AGGGTCCACACGGGAGAGAAA	0.493												
ZNF229	7772	broad.mit.edu	37	19	44946745	44946745	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:44946745A>G	uc002oze.1	-	4	527	c.93_splice	c.e4+1	p.Q31_splice	ZNF229_uc010ejk.1_Splice_Site|ZNF229_uc010ejl.1_Splice_Site_p.Q31_splice	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				AAAACAACCCACCTGAGACAT	0.463												
STRN4	29888	broad.mit.edu	37	19	47236438	47236438	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:47236438C>T	uc002pfl.2	-	5	628	c.595G>A	c.(595-597)GTC>ATC	p.V199I	STRN4_uc002pfm.2_Missense_Mutation_p.V199I|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	199						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AGGGAACGGACGCGCTTGGAC	0.677												
DHX34	9704	broad.mit.edu	37	19	47858522	47858522	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:47858522C>T	uc010xyn.1	+	3	1273	c.932C>T	c.(931-933)TCG>TTG	p.S311L	DHX34_uc010elc.1_Missense_Mutation_p.S311L	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	311	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATCCTCATGTCGGCCACCATC	0.592												
SLC8A2	6543	broad.mit.edu	37	19	47951360	47951360	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:47951360G>A	uc002pgx.2	-	4	1747	c.1469C>T	c.(1468-1470)GCG>GTG	p.A490V	SLC8A2_uc010xyq.1_Missense_Mutation_p.A246V|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.A490V	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	490	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CATGCCCTGCGCGTCGCCCAC	0.692												
LIG1	3978	broad.mit.edu	37	19	48640806	48640806	+	Silent	SNP	G	G	A	rs142732689		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:48640806G>A	uc002pia.1	-	13	1347	c.1227C>T	c.(1225-1227)CGC>CGT	p.R409R	LIG1_uc010xze.1_Silent_p.R102R|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.R341R|LIG1_uc010xzg.1_Silent_p.R378R|LIG1_uc010xzh.1_RNA	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	409					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGGCGATGTCGCGGAACTTGC	0.672								NER				
SPHK2	56848	broad.mit.edu	37	19	49129478	49129478	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:49129478C>T	uc002pjr.2	+	3	736	c.370C>T	c.(370-372)CGG>TGG	p.R124W	SPHK2_uc010xzt.1_Missense_Mutation_p.R65W|SPHK2_uc002pjs.2_Missense_Mutation_p.R124W|SPHK2_uc002pjt.2_Intron|SPHK2_uc002pju.2_Missense_Mutation_p.R88W|SPHK2_uc002pjv.2_Missense_Mutation_p.R88W|SPHK2_uc002pjw.2_Missense_Mutation_p.R186W|SPHK2_uc010xzu.1_Missense_Mutation_p.R88W	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	124	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCTcggggccggcgcggggc	0.592												
FUT1	2523	broad.mit.edu	37	19	49253765	49253765	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:49253765G>A	uc002pkk.2	-	4	1749	c.774C>T	c.(772-774)TTC>TTT	p.F258F		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	258	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			ovary(1)	1		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TGGTGACCACGAAAACGGGGG	0.617												
PLEKHA4	57664	broad.mit.edu	37	19	49362884	49362884	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:49362884A>G	uc002pkx.2	-	7	1085	c.534T>C	c.(532-534)GGT>GGC	p.G178G	PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Silent_p.G178G	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	178	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		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)		CCGGGGGACCACCGGGGCCGC	0.637												
FLT3LG	2323	broad.mit.edu	37	19	49983624	49983624	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:49983624C>T	uc010yau.1	+	7	641	c.551C>T	c.(550-552)CCC>CTC	p.P184L	FLT3LG_uc002pnv.2_Missense_Mutation_p.P102L|FLT3LG_uc002pnw.2_Missense_Mutation_p.P102L|FLT3LG_uc002pnu.2_Missense_Mutation_p.P184L|FLT3LG_uc002pnx.2_Missense_Mutation_p.P184L|FLT3LG_uc010yav.1_Missense_Mutation_p.P102L	NM_001459	NP_001450	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand precursor	184	Extracellular (Potential).				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity				0		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GCCCCGCAGCCCCCTCTGCTC	0.662												
FCGRT	2217	broad.mit.edu	37	19	50027778	50027778	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50027778C>T	uc002poe.2	+	5	1102	c.616C>T	c.(616-618)CGC>TGC	p.R206C	FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Missense_Mutation_p.R206C|FCGRT_uc002pof.1_Missense_Mutation_p.R111C|FCGRT_uc010yax.1_Silent_p.C234C|FCGRT_uc002poh.1_Missense_Mutation_p.R66C|FCGRT_uc002poi.2_5'Flank	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	206	Extracellular (Potential).|Alpha-3.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(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;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CCCCTCCATGCGCCTGAAGGC	0.627												
PRR12	57479	broad.mit.edu	37	19	50098868	50098868	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50098868G>A	uc002poo.3	+	4	1276	c.1276G>A	c.(1276-1278)GCC>ACC	p.A426T		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCAGCAGCCGCCTATGCCAC	0.697												
PRMT1	3276	broad.mit.edu	37	19	50183169	50183169	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50183169C>T	uc010enf.1	+	2	119	c.77C>T	c.(76-78)CCG>CTG	p.P26L	PRMT1_uc002ppc.1_Intron|PRMT1_uc002ppd.2_5'UTR|PRMT1_uc002ppe.2_Intron|PRMT1_uc002ppf.2_Intron|PRMT1_uc002ppg.2_Intron|PRMT1_uc010yba.1_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						cytoplasm	protein methyltransferase activity			ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		AGCCTCCAGCCGCCTCTTGAA	0.502												
TSKS	60385	broad.mit.edu	37	19	50243410	50243410	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50243410C>T	uc002ppm.2	-	10	1539	c.1528G>A	c.(1528-1530)GTC>ATC	p.V510I		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	510							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCTGCCCTGACGTGTTTGGCT	0.647												
AP2A1	160	broad.mit.edu	37	19	50303257	50303257	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50303257C>T	uc002ppn.2	+	11	1516	c.1305C>T	c.(1303-1305)TAC>TAT	p.Y435Y	AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Silent_p.Y435Y|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	435					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCGAGAAGTACGCCGTGGACT	0.617												
PNKP	11284	broad.mit.edu	37	19	50365981	50365981	+	Silent	SNP	C	C	T	rs148491228	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50365981C>T	uc002pqh.2	-	8	883	c.831G>A	c.(829-831)ACG>ACA	p.T277T	PNKP_uc002pqg.2_Silent_p.T58T|PNKP_uc002pqi.2_Silent_p.T238T|PNKP_uc002pqj.2_Silent_p.T277T|PNKP_uc010enm.2_Silent_p.T277T|PNKP_uc002pqk.2_Silent_p.T277T	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	277					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGATATGGGCGTGCCGTCGT	0.672								Other_BER_factors				
MYBPC2	4606	broad.mit.edu	37	19	50949190	50949190	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50949190G>A	uc002psf.2	+	12	1238	c.1187G>A	c.(1186-1188)CGC>CAC	p.R396H		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	396	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCCCGGTACCGCTTCAAGAAG	0.567												
MYBPC2	4606	broad.mit.edu	37	19	50957558	50957558	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50957558C>T	uc002psf.2	+	18	1997	c.1946C>T	c.(1945-1947)TCG>TTG	p.S649L		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	649	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGCATCACCTCGGTTGGAGAG	0.647												
LRRC4B	94030	broad.mit.edu	37	19	51021575	51021575	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:51021575G>A	uc002pss.2	-	3	1532	c.1395C>T	c.(1393-1395)GGC>GGT	p.G465G		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	465	Gly-rich.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ccccgccgctgccggtgcccc	0.408												
SIGLEC10	89790	broad.mit.edu	37	19	51919202	51919202	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:51919202G>A	uc002pwo.2	-	5	1590	c.974C>T	c.(973-975)GCG>GTG	p.A325V	SIGLEC10_uc002pwp.2_Missense_Mutation_p.A267V|SIGLEC10_uc002pwq.2_Missense_Mutation_p.A267V|SIGLEC10_uc002pwr.2_Missense_Mutation_p.A325V|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Missense_Mutation_p.A277V|SIGLEC10_uc010eow.2_Missense_Mutation_p.A137V|SIGLEC10_uc002pws.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	325	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCTGTTCTCCGCTCGGCAGGT	0.662												
ZNF649	65251	broad.mit.edu	37	19	52394795	52394795	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:52394795T>G	uc002pxy.2	-	5	862	c.594A>C	c.(592-594)AGA>AGC	p.R198S	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	zinc finger protein 649	198	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTGTATGAATTCTCTTATGCT	0.458												
ZNF615	284370	broad.mit.edu	37	19	52496837	52496837	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:52496837G>T	uc002pye.1	-	6	1784	c.1492C>A	c.(1492-1494)CGC>AGC	p.R498S	ZNF615_uc002pyf.1_Missense_Mutation_p.R509S|ZNF615_uc002pyg.1_Missense_Mutation_p.R390S|ZNF615_uc002pyh.1_Missense_Mutation_p.R509S|ZNF615_uc010epi.1_Missense_Mutation_p.R505S|ZNF615_uc010ydg.1_Missense_Mutation_p.R503S	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	498	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACAATAAGGCGGCTCTTCACA	0.443												
PPP2R1A	5518	broad.mit.edu	37	19	52716018	52716018	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:52716018G>A	uc002pyp.2	+	5	742	c.583G>A	c.(583-585)GTG>ATG	p.V195M	PPP2R1A_uc010ydk.1_Missense_Mutation_p.V140M|PPP2R1A_uc010epm.1_Missense_Mutation_p.V235M|PPP2R1A_uc002pyq.2_Missense_Mutation_p.V16M	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	195	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			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)		GTTTGCCAAGGTGCTGGAGCT	0.617			Mis		clear cell ovarian carcinoma							
ZNF766	90321	broad.mit.edu	37	19	52794058	52794058	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:52794058G>A	uc002pyr.1	+	4	1057	c.1014G>A	c.(1012-1014)GGG>GGA	p.G338G	ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Silent_p.G353G	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	338	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		AATTTAGTGGGCATTCAAGCC	0.393												
ZNF534	147658	broad.mit.edu	37	19	52954604	52954604	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:52954604G>A	uc002pzj.1	+	5	561	c.436G>A	c.(436-438)GAT>AAT	p.D146N	ZNF534_uc010epo.1_Missense_Mutation_p.D103N|ZNF578_uc002pzm.2_5'Flank|ZNF578_uc002pzn.2_5'Flank|ZNF578_uc002pzp.3_5'Flank|ZNF578_uc002pzo.1_5'Flank|ZNF578_uc010epp.1_5'Flank			Q76KX8	ZN534_HUMAN	SubName: Full=Putative uncharacterized protein;	Error:Variant_position_missing_in_Q76KX8_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCGCTTGGCGATGCAAAACG	0.687												
LILRB3	11025	broad.mit.edu	37	19	54725110	54725110	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:54725110C>T	uc002qef.1	-	5	911	c.800G>A	c.(799-801)CGC>CAC	p.R267H	LILRB3_uc002qee.1_Missense_Mutation_p.R267H|LILRB3_uc002qeh.1_Missense_Mutation_p.R267H|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.R267H|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Missense_Mutation_p.R267H|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Missense_Mutation_p.R267H|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Missense_Mutation_p.R267H|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	267	Extracellular (Potential).|Ig-like C2-type 3.				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)		CTGGCCAGGGCGCTGGAGGAA	0.637												
LILRB3	11025	broad.mit.edu	37	19	54745900	54745900	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:54745900A>G	uc010erh.1	-	3	479	c.355_splice	c.e3+1	p.G119_splice	LILRB3_uc002qeh.1_Splice_Site_p.G119_splice|LILRB3_uc002qeg.1_Splice_Site|LILRB3_uc002qei.1_Splice_Site_p.G119_splice|LILRA6_uc002qek.1_Splice_Site_p.G119_splice|LILRB3_uc002qej.1_Splice_Site|LILRA6_uc002qel.1_Splice_Site_p.G119_splice|LILRA6_uc002qem.1_Splice_Site|LILRB3_uc002qen.1_Splice_Site|LILRB3_uc002qeo.1_Splice_Site_p.G119_splice|LILRB3_uc002qep.1_Splice_Site_p.G119_splice|LILRB3_uc002qeq.1_Splice_Site_p.G119_splice|LILRB3_uc002qer.1_Splice_Site|LILRB3_uc002qes.1_Splice_Site_p.G119_splice|LILRA6_uc010yep.1_Splice_Site_p.G119_splice|LILRA6_uc010yeq.1_Splice_Site_p.G119_splice|LILRA6_uc002qet.3_Splice_Site|LILRA6_uc002qeu.1_Splice_Site_p.G119_splice|LILRA6_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,						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)		GTGTCCTCTCACCTGTCATCA	0.637												
TNNT1	7138	broad.mit.edu	37	19	55656925	55656925	+	Missense_Mutation	SNP	G	G	A	rs139279150	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:55656925G>A	uc002qjb.3	-	6	204	c.115C>T	c.(115-117)CGC>TGC	p.R39C	TNNT1_uc002qiz.3_Translation_Start_Site|TNNT1_uc002qja.3_Translation_Start_Site|TNNT1_uc002qjc.3_Missense_Mutation_p.R39C|TNNT1_uc002qje.3_Missense_Mutation_p.R28C|TNNT1_uc002qjd.3_Missense_Mutation_p.R28C|TNNT1_uc002qjf.2_Missense_Mutation_p.R35C	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	39					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGTTTGGGGCGTTCCTCTTCT	0.542												
TNNI3	7137	broad.mit.edu	37	19	55665463	55665463	+	Silent	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:55665463G>T	uc002qjg.3	-	7	484	c.484C>A	c.(484-486)CGG>AGG	p.R162R	TNNI3_uc010yft.1_Silent_p.R154R	NM_000363	NP_000354	P19429	TNNI3_HUMAN	troponin I, cardiac	162			R -> Q (in CMH7).|R -> P (in CMH7).		cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			lung(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCCTTAGCCCGGGCCCCCAGC	0.602												
C19orf51	352909	broad.mit.edu	37	19	55677303	55677303	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:55677303G>T	uc002qji.1	-	3	185	c.151C>A	c.(151-153)CTT>ATT	p.L51I	C19orf51_uc002qjj.1_Missense_Mutation_p.L98I|C19orf51_uc002qjk.1_5'UTR|C19orf51_uc002qjl.1_Missense_Mutation_p.L119I			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	51											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GAGCCCAGAAGCAGCACATCT	0.617											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NLRP4	147945	broad.mit.edu	37	19	56369147	56369147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:56369147G>T	uc002qmd.3	+	3	810	c.388G>T	c.(388-390)GAA>TAA	p.E130*	NLRP4_uc002qmf.2_Nonsense_Mutation_p.E55*|NLRP4_uc010etf.2_5'UTR	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	130							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGTCAAGCAAGAAGAATGTGA	0.463												
ZNF787	126208	broad.mit.edu	37	19	56600281	56600281	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:56600281G>A	uc010eth.1	-	3	379	c.260C>T	c.(259-261)ACG>ATG	p.T87M		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	87	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCCGGTGTGCGTGCGCTGGTG	0.542												
ZNF667	63934	broad.mit.edu	37	19	56953519	56953519	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:56953519T>C	uc002qnd.2	-	5	1007	c.845A>G	c.(844-846)AAA>AGA	p.K282R	ZNF667_uc010etl.2_Missense_Mutation_p.K64R|ZNF667_uc002qne.2_Missense_Mutation_p.K282R|ZNF667_uc010etm.2_Missense_Mutation_p.K225R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	282	C2H2-type 5; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTATTATATTTATGTGTTTT	0.368												
ZNF667	63934	broad.mit.edu	37	19	56969605	56969605	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:56969605G>A	uc002qnd.2	-	4	334	c.172C>T	c.(172-174)CGG>TGG	p.R58W	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.R58W|ZNF667_uc010etm.2_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTGGTCTCCGAAAGGAAAGA	0.498												
ZNF835	90485	broad.mit.edu	37	19	57175988	57175988	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:57175988C>T	uc010ygo.1	-	2	645	c.645G>A	c.(643-645)CCG>CCA	p.P215P	ZNF835_uc010ygn.1_Silent_p.P193P	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CGCAGCGGTGCGGCTTCTCGC	0.726												
DUXA	503835	broad.mit.edu	37	19	57670628	57670628	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:57670628T>C	uc002qoa.1	-	3	244	c.199A>G	c.(199-201)AGA>GGA	p.R67G		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	double homeobox A	67	Homeobox 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TGCCTAGCTCTTCGATTCTGA	0.418												
AURKC	6795	broad.mit.edu	37	19	57743929	57743929	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:57743929C>T	uc002qoe.2	+	4	505	c.316C>T	c.(316-318)CTG>TTG	p.L106L	AURKC_uc002qoc.2_Silent_p.L87L|AURKC_uc002qod.2_Silent_p.L72L|AURKC_uc010etv.2_Silent_p.L103L	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	106	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TATCCTGCGCCTGTATAACTA	0.483												
ZNF419	79744	broad.mit.edu	37	19	58004734	58004734	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:58004734G>A	uc002qov.2	+	5	1049	c.809G>A	c.(808-810)CGT>CAT	p.R270H	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.R271H|ZNF419_uc010etz.1_Missense_Mutation_p.R258H|ZNF419_uc010eua.1_Missense_Mutation_p.R257H|ZNF419_uc002qow.2_Missense_Mutation_p.R238H|ZNF419_uc010eub.1_Missense_Mutation_p.R225H|ZNF419_uc010euc.1_Missense_Mutation_p.R224H	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	270	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TCCTTTAGCCGTAATGCTCAC	0.408												
ZNF606	80095	broad.mit.edu	37	19	58490108	58490108	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:58490108G>A	uc002qqw.2	-	7	2558	c.1940C>T	c.(1939-1941)ACT>ATT	p.T647I	ZNF606_uc010yhp.1_Missense_Mutation_p.T557I	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTTTCTCCAGTATGAGTCCT	0.398												
TPO	7173	broad.mit.edu	37	2	1426892	1426892	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:1426892C>T	uc002qww.2	+	3	261	c.170C>T	c.(169-171)ACG>ATG	p.T57M	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.T57M|TPO_uc002qwu.2_Missense_Mutation_p.T57M|TPO_uc002qwr.2_Missense_Mutation_p.T57M|TPO_uc002qwx.2_Missense_Mutation_p.T57M|TPO_uc010yio.1_Missense_Mutation_p.T57M|TPO_uc010yip.1_Missense_Mutation_p.T57M	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	57	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATGTACGCCACGATGCAGAGG	0.592												
RNASEH1	246243	broad.mit.edu	37	2	3595577	3595577	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:3595577T>C	uc002qxt.2	-	7	808	c.718A>G	c.(718-720)AAC>GAC	p.N240D	RNASEH1_uc002qxs.2_Missense_Mutation_p.N123D	NM_002936	NP_002927	O60930	RNH1_HUMAN	ribonuclease H1	240	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TCCTCTTTGTTGATCACCTCT	0.443												
KIDINS220	57498	broad.mit.edu	37	2	8891707	8891707	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:8891707T>C	uc002qzc.2	-	23	3261	c.3079A>G	c.(3079-3081)AAT>GAT	p.N1027D	KIDINS220_uc010yiv.1_Missense_Mutation_p.N793D|KIDINS220_uc002qzd.2_Missense_Mutation_p.N985D|KIDINS220_uc010yiw.1_Missense_Mutation_p.N1028D|KIDINS220_uc002qzb.2_5'Flank|KIDINS220_uc002qze.2_Missense_Mutation_p.N32D	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1027	Cytoplasmic (Potential).				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTTCAAAATTTCTTATATCT	0.348												
DDX1	1653	broad.mit.edu	37	2	15742747	15742747	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:15742747T>C	uc002rce.2	+	7	671	c.383T>C	c.(382-384)TTA>TCA	p.L128S	DDX1_uc010yjq.1_Missense_Mutation_p.L36S	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	128	B30.2/SPRY.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.|Helicase ATP-binding.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		ACTAAAGGATTAATGAAAGGT	0.328												
MFSD2B	388931	broad.mit.edu	37	2	24244793	24244793	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:24244793T>C	uc002reo.1	+	8	861	c.847T>C	c.(847-849)TAC>CAC	p.Y283H		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	283					transport	integral to membrane				ovary(2)	2						GCACCCACCCTACCTGAAGCT	0.622												
PFN4	375189	broad.mit.edu	37	2	24344166	24344166	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:24344166G>A	uc002rfa.1	-	3	298	c.122C>T	c.(121-123)ACG>ATG	p.T41M	LOC375190_uc002rew.2_Intron|LOC375190_uc010ykl.1_5'Flank	NM_199346	NP_955378	Q8NHR9	PROF4_HUMAN	profilin family, member 4	41					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCACTGGGCGTTACCTGGAG	0.299												
DNMT3A	1788	broad.mit.edu	37	2	25469151	25469151	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:25469151T>C	uc002rgc.2	-	11	1564	c.1307A>G	c.(1306-1308)TAC>TGC	p.Y436C	DNMT3A_uc002rgd.2_Missense_Mutation_p.Y436C|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.Y247C	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	436					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGTCCGTGTACACTTCTTT	0.577			Mis|F|N|S		AML							
CAD	790	broad.mit.edu	37	2	27460632	27460632	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:27460632C>T	uc002rji.2	+	29	4772	c.4610C>T	c.(4609-4611)GCC>GTC	p.A1537V	CAD_uc010eyw.2_Missense_Mutation_p.A1474V	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1537	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTCCTTGGGGCCTCGTCTGAA	0.612												
TRIM54	57159	broad.mit.edu	37	2	27528594	27528594	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:27528594G>A	uc002rjo.2	+	5	752	c.752G>A	c.(751-753)CGT>CAT	p.R251H	TRIM54_uc002rjn.2_Missense_Mutation_p.R293H	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	ring finger protein 30 isoform 2	251	Potential.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTCATCCGTCAGTATGGC	0.642												
CLIP4	79745	broad.mit.edu	37	2	29404553	29404553	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:29404553G>T	uc002rmv.2	+	16	2151	c.1912G>T	c.(1912-1914)GGT>TGT	p.G638C	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	638										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CAATGAGATGGGTACTGTTAG	0.577												
GALNT14	79623	broad.mit.edu	37	2	31215801	31215801	+	Missense_Mutation	SNP	G	G	A	rs145668909		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:31215801G>A	uc002rnr.2	-	2	821	c.202C>T	c.(202-204)CGC>TGC	p.R68C	GALNT14_uc002rnq.2_Missense_Mutation_p.R48C|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Missense_Mutation_p.R33C|GALNT14_uc010ezo.1_Missense_Mutation_p.R68C|GALNT14_uc010ezp.1_Missense_Mutation_p.R39C	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	68	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					TCACCAACGCGCCACTTTTTG	0.572												
STRN	6801	broad.mit.edu	37	2	37076751	37076751	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:37076751G>A	uc002rpn.2	-	18	2200	c.2191C>T	c.(2191-2193)CGT>TGT	p.R731C	STRN_uc010ezx.2_Missense_Mutation_p.R694C	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	731	WD 5.				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTCCATAAACGTATTGAACAG	0.313												
CEBPZ	10153	broad.mit.edu	37	2	37455664	37455664	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:37455664C>T	uc002rpz.2	-	2	702	c.672G>A	c.(670-672)ACG>ACA	p.T224T		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	224					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				TTTGACTATTCGTCTTACTTT	0.423												
CYP1B1	1545	broad.mit.edu	37	2	38302370	38302370	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:38302370C>T	uc002rqo.2	-	3	565	c.162G>A	c.(160-162)CCG>CCA	p.P54P		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	54					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)	GCCACGCAAACGGGCCCGGGG	0.716												
PLEKHH2	130271	broad.mit.edu	37	2	43927482	43927482	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:43927482A>C	uc010yny.1	+	8	1468	c.1385A>C	c.(1384-1386)CAG>CCG	p.Q462P	PLEKHH2_uc002rte.3_Missense_Mutation_p.Q462P|PLEKHH2_uc002rtf.3_Missense_Mutation_p.Q461P	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	462						cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCCAGCCACAGTTAAGCTCT	0.433												
PLEKHH2	130271	broad.mit.edu	37	2	43969914	43969914	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:43969914C>T	uc010yny.1	+	22	3339	c.3256C>T	c.(3256-3258)CGT>TGT	p.R1086C		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1086	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTACTGCCAGCGTTGTGTAGA	0.353												
PPM1B	5495	broad.mit.edu	37	2	44428897	44428897	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:44428897G>A	uc002rtt.2	+	2	987	c.559G>A	c.(559-561)GTG>ATG	p.V187M	PPM1B_uc002rts.2_Missense_Mutation_p.V187M|PPM1B_uc002rtu.2_Missense_Mutation_p.V187M|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.V187M|PPM1B_uc002rtx.2_Missense_Mutation_p.V187M	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	187					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGGAGGCAGCGTGATGATACA	0.458												
SIX3	6496	broad.mit.edu	37	2	45169584	45169584	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:45169584C>T	uc002run.1	+	1	548	c.341C>T	c.(340-342)TCG>TTG	p.S114L		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	114					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTCCTCTGGTCGCTGCCCGTG	0.701												
SIX2	10736	broad.mit.edu	37	2	45236175	45236175	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:45236175G>A	uc002ruo.2	-	1	368	c.75C>T	c.(73-75)GGC>GGT	p.G25G	SIX2_uc002rup.2_Silent_p.G25G	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	25						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTCGATGTTGCCGCCCTGCT	0.622												
TTC7A	57217	broad.mit.edu	37	2	47251494	47251494	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:47251494G>A	uc002rvo.2	+	14	2005	c.1637G>A	c.(1636-1638)CGA>CAA	p.R546Q	TTC7A_uc002rvm.2_Missense_Mutation_p.R512Q|TTC7A_uc002rvn.1_Missense_Mutation_p.R427Q|TTC7A_uc010fbb.2_Missense_Mutation_p.R546Q|TTC7A_uc010fbc.2_Missense_Mutation_p.R192Q|TTC7A_uc002rvp.2_Missense_Mutation_p.R427Q|TTC7A_uc002rvq.2_Missense_Mutation_p.R286Q|TTC7A_uc002rvr.2_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	546	TPR 5.						binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCCCTCGTCCGACAGGTGGGT	0.542												
CCDC88A	55704	broad.mit.edu	37	2	55561313	55561313	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:55561313G>A	uc002ryv.2	-	15	3486	c.2644C>T	c.(2644-2646)CGT>TGT	p.R882C	CCDC88A_uc010yoz.1_Missense_Mutation_p.R882C|CCDC88A_uc010ypa.1_Missense_Mutation_p.R882C|CCDC88A_uc010ypb.1_Missense_Mutation_p.R784C|CCDC88A_uc002ryu.2_Missense_Mutation_p.R165C|CCDC88A_uc002ryw.2_Missense_Mutation_p.R165C	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	882	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TCTTTCAGACGGACACAAGAT	0.303												
USP34	9736	broad.mit.edu	37	2	61468760	61468760	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:61468760G>A	uc002sbe.2	-	53	6734	c.6712C>T	c.(6712-6714)CGC>TGC	p.R2238C	USP34_uc002sbf.2_Missense_Mutation_p.R388C	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2238					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			GGTTCCATGCGTTTGTAAAAC	0.308												
XPO1	7514	broad.mit.edu	37	2	61729421	61729421	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:61729421A>T	uc002sbj.2	-	5	1054	c.326T>A	c.(325-327)CTC>CAC	p.L109H	XPO1_uc010fcl.2_Missense_Mutation_p.L105H|XPO1_uc010ypn.1_Missense_Mutation_p.L105H|XPO1_uc002sbk.2_5'UTR	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	109	Importin N-terminal.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTTGATAATGAGGCCAACAAC	0.308												
ADD2	119	broad.mit.edu	37	2	70910899	70910899	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:70910899C>T	uc002sgz.2	-	10	1414	c.949G>A	c.(949-951)GTG>ATG	p.V317M	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.V317M|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.V317M|ADD2_uc010fdt.1_Missense_Mutation_p.V317M|ADD2_uc002shc.1_Missense_Mutation_p.V317M|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.V333M	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	317					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						AGAGCCGACACCTGTAGCAAA	0.607												
CLEC4F	165530	broad.mit.edu	37	2	71043874	71043874	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:71043874G>A	uc002shf.2	-	4	716	c.639C>T	c.(637-639)CAC>CAT	p.H213H	CLEC4F_uc010yqv.1_Silent_p.H213H	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	C-type lectin, superfamily member 13	213	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(5)	5						TGCTTAGCACGTGGAGCTCAA	0.428												
DYSF	8291	broad.mit.edu	37	2	71887771	71887771	+	Missense_Mutation	SNP	G	G	A	rs147056383	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:71887771G>A	uc002sie.2	+	44	5252	c.4876G>A	c.(4876-4878)GTA>ATA	p.V1626I	DYSF_uc010feg.2_Missense_Mutation_p.V1657I|DYSF_uc010feh.2_Missense_Mutation_p.V1633I|DYSF_uc002sig.3_Missense_Mutation_p.V1612I|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.V1647I|DYSF_uc010fef.2_Missense_Mutation_p.V1664I|DYSF_uc010fei.2_Missense_Mutation_p.V1643I|DYSF_uc010fek.2_Missense_Mutation_p.V1644I|DYSF_uc010fej.2_Missense_Mutation_p.V1634I|DYSF_uc010fel.2_Missense_Mutation_p.V1613I|DYSF_uc010feo.2_Missense_Mutation_p.V1658I|DYSF_uc010fem.2_Missense_Mutation_p.V1648I|DYSF_uc010fen.2_Missense_Mutation_p.V1665I|DYSF_uc002sif.2_Missense_Mutation_p.V1627I|DYSF_uc010yqy.1_Missense_Mutation_p.V507I|DYSF_uc010yqz.1_Missense_Mutation_p.V387I	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1626	Cytoplasmic (Potential).|C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GCTGGAGCCCGTATTTGGAAA	0.507												
DYSF	8291	broad.mit.edu	37	2	71909699	71909699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:71909699C>A	uc002sie.2	+	54	6472	c.6096C>A	c.(6094-6096)TAC>TAA	p.Y2032*	DYSF_uc010feg.2_Nonsense_Mutation_p.Y2063*|DYSF_uc010feh.2_Nonsense_Mutation_p.Y2039*|DYSF_uc002sig.3_Nonsense_Mutation_p.Y2018*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.Y2053*|DYSF_uc010fef.2_Nonsense_Mutation_p.Y2070*|DYSF_uc010fei.2_Nonsense_Mutation_p.Y2049*|DYSF_uc010fek.2_Nonsense_Mutation_p.Y2050*|DYSF_uc010fej.2_Nonsense_Mutation_p.Y2040*|DYSF_uc010fel.2_Nonsense_Mutation_p.Y2019*|DYSF_uc010feo.2_Nonsense_Mutation_p.Y2064*|DYSF_uc010fem.2_Nonsense_Mutation_p.Y2054*|DYSF_uc010fen.2_Nonsense_Mutation_p.Y2071*|DYSF_uc002sif.2_Nonsense_Mutation_p.Y2033*|DYSF_uc010yqy.1_Nonsense_Mutation_p.Y913*|DYSF_uc010yqz.1_Nonsense_Mutation_p.Y793*	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	2032	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CCTCCCCATACAAGACCATGA	0.493												
EXOC6B	23233	broad.mit.edu	37	2	72968532	72968532	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:72968532G>A	uc010fep.2	-	2	318	c.180C>T	c.(178-180)CAC>CAT	p.H60H	EXOC6B_uc002sij.2_Silent_p.H60H	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	SEC15-like 2	60	Potential.				protein transport|vesicle docking involved in exocytosis	exocyst				central_nervous_system(2)	2						TTTCTCGGTCGTGATTACGGA	0.403												
DUSP11	8446	broad.mit.edu	37	2	73994312	73994312	+	Missense_Mutation	SNP	C	C	T	rs144123904	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:73994312C>T	uc002sjp.2	-	6	700	c.658G>A	c.(658-660)GTG>ATG	p.V220M		NM_003584	NP_003575	O75319	DUS11_HUMAN	dual specificity phosphatase 11	173	Tyrosine-protein phosphatase.				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			skin(1)	1						TCTGGCCTCACGCCTTCTACA	0.274												
ACTG2	72	broad.mit.edu	37	2	74143722	74143722	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:74143722G>A	uc002sjw.2	+	8	939	c.817G>A	c.(817-819)GCT>ACT	p.A273T	ACTG2_uc010fey.2_Missense_Mutation_p.A273T|ACTG2_uc010yrn.1_Missense_Mutation_p.A230T	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	273					muscle contraction	cytoskeleton|cytosol	ATP binding				0						CATGGAGTCCGCTGGAATTCA	0.473												
HK2	3099	broad.mit.edu	37	2	75116583	75116583	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:75116583A>G	uc002snd.2	+	17	4513	c.2587A>G	c.(2587-2589)ACC>GCC	p.T863A		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	863	ATP 2 (By similarity).|Glucose-6-phosphate 2 binding.|Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						TGTGGATGGGACCCTCTACAA	0.478												
USP39	10713	broad.mit.edu	37	2	85848673	85848673	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:85848673C>T	uc002sqe.2	+	3	440	c.404C>T	c.(403-405)GCC>GTC	p.A135V	USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_Missense_Mutation_p.A57V|USP39_uc010ysv.1_Intron|USP39_uc010fgn.1_Missense_Mutation_p.A135V|USP39_uc002sqf.2_Missense_Mutation_p.A135V|USP39_uc002sqg.2_Missense_Mutation_p.A135V|USP39_uc010fgo.2_Missense_Mutation_p.A135V	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	135	UBP-type.			A -> V (in Ref. 4; BAD96572).	spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1						AATGCTTATGCCTGTCTGGTG	0.368												
PROM2	150696	broad.mit.edu	37	2	95943229	95943229	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:95943229T>C	uc002suh.1	+	7	1023	c.890T>C	c.(889-891)CTG>CCG	p.L297P	PROM2_uc002sui.2_Missense_Mutation_p.L297P|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Missense_Mutation_p.L297P|PROM2_uc002sul.2_5'UTR	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	297	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						CTCCTTGAGCTGCTGCAGGAG	0.662												
FAHD2A	51011	broad.mit.edu	37	2	96076670	96076670	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:96076670G>A	uc002sur.2	+	5	760	c.581G>A	c.(580-582)CGT>CAT	p.R194H	FAHD2A_uc002sus.2_Missense_Mutation_p.R194H	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	194							hydrolase activity|metal ion binding			ovary(1)	1						GTGAGTGCTCGTGACTGGCAA	0.557												
C2orf55	343990	broad.mit.edu	37	2	99439884	99439884	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:99439884G>A	uc002szf.1	-	7	1146	c.852C>T	c.(850-852)GAC>GAT	p.D284D		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	284											0						CTGGCGCCACGTCCTGCTGCC	0.706												
SLC9A2	6549	broad.mit.edu	37	2	103324619	103324619	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:103324619G>A	uc002tca.2	+	12	2252	c.2110G>A	c.(2110-2112)GTG>ATG	p.V704M		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	704	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						CGGGACCACCGTGCTCAATTT	0.498												
GPR45	11250	broad.mit.edu	37	2	105858638	105858638	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:105858638G>A	uc002tco.1	+	1	439	c.323G>A	c.(322-324)CGC>CAC	p.R108H		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	108	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						CACTTCTGCCGCCTCTCAGCC	0.617												
TGFBRAP1	9392	broad.mit.edu	37	2	105915130	105915130	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:105915130G>A	uc002tcq.2	-	3	805	c.721C>T	c.(721-723)CGC>TGC	p.R241C	TGFBRAP1_uc010fjc.2_Missense_Mutation_p.R11C|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.R241C	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	241	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						ACGGGGGCGCGCTGGGATATC	0.502												
UXS1	80146	broad.mit.edu	37	2	106729102	106729102	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:106729102C>T	uc002tdm.2	-	10	962	c.864G>A	c.(862-864)ACG>ACA	p.T288T	UXS1_uc002tdl.2_Silent_p.T120T|UXS1_uc002tdn.2_Silent_p.T293T|UXS1_uc002tdo.2_Silent_p.T231T|UXS1_uc010ywh.1_Silent_p.T132T	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	288	Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2						CAGCACCTACCGTGAGTGGCT	0.562												
EDAR	10913	broad.mit.edu	37	2	109524435	109524435	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:109524435G>A	uc002teq.3	-	10	1275	c.844C>T	c.(844-846)CGG>TGG	p.R282W	EDAR_uc010fjn.2_Missense_Mutation_p.R314W|EDAR_uc010yws.1_Missense_Mutation_p.R314W	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	282	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						TCGACGCTCCGGCTCAGCAGC	0.622												
SH3RF3	344558	broad.mit.edu	37	2	110015266	110015266	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:110015266A>G	uc010ywt.1	+	4	1166	c.1166A>G	c.(1165-1167)CAC>CGC	p.H389R		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	389							zinc ion binding			ovary(1)	1						AGTGTGACGCACAGATCCTCC	0.587												
MALL	7851	broad.mit.edu	37	2	110849255	110849255	+	Silent	SNP	C	C	T	rs143165334	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:110849255C>T	uc002tfk.2	-	2	972	c.198G>A	c.(196-198)TCG>TCA	p.S66S	MALL_uc010fju.2_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	66	MARVEL.|Helical; (Potential).				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			ovary(1)|skin(1)	2				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		AGATGAGAAACGAGGTGAGCG	0.463												
FOXD4L1	200350	broad.mit.edu	37	2	114256835	114256835	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:114256835T>C	uc002tjw.3	+	1	175	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	1					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						TGCTCCGCCATGAACCTGCCA	0.617												
EPB41L5	57669	broad.mit.edu	37	2	120776745	120776745	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:120776745G>A	uc002tmg.2	+	2	211	c.85G>A	c.(85-87)GCC>ACC	p.A29T	EPB41L5_uc010flk.2_Missense_Mutation_p.A29T|EPB41L5_uc010fll.2_Missense_Mutation_p.A29T|EPB41L5_uc002tmh.3_Missense_Mutation_p.A29T	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	29						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						AGCACAACGCGCCGCCACACA	0.488												
INHBB	3625	broad.mit.edu	37	2	121104098	121104098	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:121104098G>A	uc002tmn.2	+	1	380	c.334G>A	c.(334-336)GCG>ACG	p.A112T		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	112					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			pancreas(2)|skin(1)	3		Prostate(154;0.122)				CAAGCTGCACGCGGGCAAGGT	0.711												
MAP3K2	10746	broad.mit.edu	37	2	128072426	128072426	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:128072426C>T	uc002toj.1	-	14	1425	c.1360G>A	c.(1360-1362)GCT>ACT	p.A454T		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	454	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TCAGTAAGAGCGCCATATGCT	0.343												
MYO7B	4648	broad.mit.edu	37	2	128347770	128347770	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:128347770G>A	uc002top.2	+	16	2011	c.1958G>A	c.(1957-1959)CGC>CAC	p.R653H		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	653	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TACTTCATCCGCTGCATCAAA	0.532												
MYO7B	4648	broad.mit.edu	37	2	128389313	128389313	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:128389313C>T	uc002top.2	+	37	5209	c.5156C>T	c.(5155-5157)ACG>ATG	p.T1719M	MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1719	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAGCAGCTGACGCACAACTCC	0.677												
WDR33	55339	broad.mit.edu	37	2	128479496	128479496	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:128479496T>C	uc002tpg.1	-	15	1768	c.1585A>G	c.(1585-1587)ATT>GTT	p.I529V		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	529					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCAATTTAATGTCTTCTTTT	0.368												
SAP130	79595	broad.mit.edu	37	2	128750820	128750820	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:128750820A>G	uc002tpp.2	-	12	1628	c.1496T>C	c.(1495-1497)CTG>CCG	p.L499P	SAP130_uc002tpn.2_Missense_Mutation_p.L260P|SAP130_uc002tpo.2_Missense_Mutation_p.L244P|SAP130_uc010fmd.2_Missense_Mutation_p.L499P|SAP130_uc002tpq.1_Missense_Mutation_p.L472P	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	499					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATGTGCCGCCAGTGGGTATGC	0.453												
CCDC74B	91409	broad.mit.edu	37	2	130898808	130898808	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:130898808C>A	uc002tqm.1	-	4	668	c.606G>T	c.(604-606)CAG>CAT	p.Q202H	CCDC74B_uc010yzw.1_Missense_Mutation_p.Q304H|CCDC74B_uc002tqn.1_Missense_Mutation_p.Q136H	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	202											0	Colorectal(110;0.1)					GGTCCGCCTTCTGGGGGACGT	0.597												
TUBA3D	113457	broad.mit.edu	37	2	132237756	132237756	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:132237756A>G	uc002tsu.3	+	4	597	c.490A>G	c.(490-492)AAG>GAG	p.K164E		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	164					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		TTACGGCAAGAAGTCCAAGCT	0.592												
GPR39	2863	broad.mit.edu	37	2	133174763	133174763	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:133174763G>A	uc002ttl.2	+	1	617	c.148G>A	c.(148-150)GCC>ACC	p.A50T		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	50	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						GGGGAACAGCGCCACCATTCG	0.527												
R3HDM1	23518	broad.mit.edu	37	2	136481617	136481617	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:136481617C>T	uc002tuo.2	+	26	3425	c.3055C>T	c.(3055-3057)CGG>TGG	p.R1019W	R3HDM1_uc010fni.2_Missense_Mutation_p.R1018W|R3HDM1_uc002tup.2_Missense_Mutation_p.R964W|R3HDM1_uc010zbh.1_Missense_Mutation_p.R767W	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	1019							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCGGTGGCTCCGGGACCCCCA	0.542												
ARHGAP15	55843	broad.mit.edu	37	2	144461010	144461010	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:144461010A>G	uc002tvm.3	+	13	1312	c.1161A>G	c.(1159-1161)AGA>AGG	p.R387R	ARHGAP15_uc002tvn.2_Silent_p.R153R	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	ARHGAP15	387	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.151)		ACAACACAAGAATTGAAGCTG	0.343												
RPRM	56475	broad.mit.edu	37	2	154334877	154334877	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:154334877G>A	uc002tyq.1	-	1	446	c.203C>T	c.(202-204)ACC>ATC	p.T68I		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	68	Helical; (Potential).				cell cycle arrest	cytoplasm|integral to membrane	protein binding				0						GAAGACCACGGTGAGTGAGAG	0.607												
KCNJ3	3760	broad.mit.edu	37	2	155555952	155555952	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:155555952A>G	uc002tyv.1	+	1	860	c.665A>G	c.(664-666)CAC>CGC	p.H222R	KCNJ3_uc010zce.1_Missense_Mutation_p.H222R	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	222	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)	CGCAACAGCCACATGGTCTCC	0.622												
UPP2	151531	broad.mit.edu	37	2	158980286	158980286	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:158980286G>A	uc002tzp.2	+	6	884	c.690G>A	c.(688-690)CTG>CTA	p.L230L	UPP2_uc002tzo.2_Silent_p.L287L	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	230					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						ATGGAGCACTGTGCTCCTTTT	0.468												
SCN1A	6323	broad.mit.edu	37	2	166859078	166859078	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:166859078G>A	uc010zcz.1	-	21	4173	c.4155C>T	c.(4153-4155)TGC>TGT	p.C1385C	SCN1A_uc002udo.3_Silent_p.C1265C|SCN1A_uc010fpk.2_Silent_p.C1237C	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1396	III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTAGTTTTAGGCAATCAGTAT	0.363												
LRP2	4036	broad.mit.edu	37	2	170127418	170127418	+	Silent	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:170127418G>C	uc002ues.2	-	16	2529	c.2316C>G	c.(2314-2316)GGC>GGG	p.G772G	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	772	LDL-receptor class B 6.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCTCACCTGTGCCATCAATCT	0.289												
HAT1	8520	broad.mit.edu	37	2	172823000	172823000	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:172823000T>C	uc002uhi.2	+	7	758	c.682T>C	c.(682-684)TAT>CAT	p.Y228H	HAT1_uc010fqi.2_Missense_Mutation_p.Y63H|HAT1_uc002uhj.2_Missense_Mutation_p.Y143H	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	228					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CTATAATTACTATGTGTACCC	0.423												
ITGA6	3655	broad.mit.edu	37	2	173344453	173344453	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:173344453G>A	uc002uhp.1	+	10	1676	c.1473G>A	c.(1471-1473)GCG>GCA	p.A491A	ITGA6_uc010zdy.1_Silent_p.A372A|ITGA6_uc002uho.1_Silent_p.A491A|ITGA6_uc010fqm.1_Silent_p.A137A	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	530	Extracellular (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)			CGTGTGGGGCGCCTAGTGGGA	0.512												
HOXD1	3231	broad.mit.edu	37	2	177053951	177053951	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:177053951C>T	uc002ukv.3	+	1	645	c.422C>T	c.(421-423)TCG>TTG	p.S141L	HOXD1_uc010fqy.2_Missense_Mutation_p.S141L|HOXD1_uc010zez.1_Missense_Mutation_p.S141L	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	homeobox D1	141						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		GCCGTCTTCTCGGGCGGCGGC	0.711												
PDE11A	50940	broad.mit.edu	37	2	178494158	178494158	+	Missense_Mutation	SNP	C	C	T	rs74326729		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:178494158C>T	uc002ulq.2	-	20	3097	c.2779G>A	c.(2779-2781)GTA>ATA	p.V927I	PDE11A_uc010zfd.1_Missense_Mutation_p.V118I|PDE11A_uc002ulp.2_Missense_Mutation_p.V483I|PDE11A_uc002ulr.2_Missense_Mutation_p.V677I|PDE11A_uc002uls.1_Missense_Mutation_p.V569I|PDE11A_uc002ult.1_Missense_Mutation_p.V677I|PDE11A_uc002ulu.1_Missense_Mutation_p.V569I	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	927					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCCTTGGCTACCATAACACTG	0.488									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial			
TTN	7273	broad.mit.edu	37	2	179401890	179401890	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179401890C>T	uc010zfg.1	-	305	92466	c.92242G>A	c.(92242-92244)GCA>ACA	p.A30748T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A24443T|TTN_uc010zfi.1_Missense_Mutation_p.A24376T|TTN_uc010zfj.1_Missense_Mutation_p.A24251T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31675							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)			CCGTCATCTGCGGGTGGTTTC	0.493												
TTN	7273	broad.mit.edu	37	2	179433099	179433099	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179433099G>A	uc010zfg.1	-	275	70280	c.70056C>T	c.(70054-70056)GGC>GGT	p.G23352G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G17047G|TTN_uc010zfi.1_Silent_p.G16980G|TTN_uc010zfj.1_Silent_p.G16855G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24279							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)			TGATTTGGCAGCCCCCTGTAT	0.408												
TTN	7273	broad.mit.edu	37	2	179455353	179455353	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179455353G>A	uc010zfg.1	-	253	53619	c.53395C>T	c.(53395-53397)CGG>TGG	p.R17799W	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R11494W|TTN_uc010zfi.1_Missense_Mutation_p.R11427W|TTN_uc010zfj.1_Missense_Mutation_p.R11302W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18726							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)			TTGATGGGCCGGCAAGCTTTT	0.433												
TTN	7273	broad.mit.edu	37	2	179463995	179463995	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179463995C>T	uc010zfg.1	-	239	49045	c.48821G>A	c.(48820-48822)TGC>TAC	p.C16274Y	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C9969Y|TTN_uc010zfi.1_Missense_Mutation_p.C9902Y|TTN_uc010zfj.1_Missense_Mutation_p.C9777Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17201							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)			CGTGTACGTGCACTCCTTAGG	0.423												
TTN	7273	broad.mit.edu	37	2	179479340	179479340	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179479340G>A	uc010zfg.1	-	210	41421	c.41197C>T	c.(41197-41199)CAG>TAG	p.Q13733*	uc002ump.1_RNA|TTN_uc010zfh.1_Nonsense_Mutation_p.Q7428*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q7361*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q7236*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14660							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)			CTTTTGTCCTGCTTCAGAATC	0.403												
SESTD1	91404	broad.mit.edu	37	2	179986541	179986541	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179986541G>A	uc002uni.3	-	13	1548	c.1398C>T	c.(1396-1398)GAC>GAT	p.D466D	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	466	Spectrin 2.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTGTATGTGGTCCACATTTT	0.358												
NEUROD1	4760	broad.mit.edu	37	2	182543335	182543335	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:182543335C>T	uc002uof.2	-	2	489	c.253G>A	c.(253-255)GGC>AGC	p.G85S	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	85					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTTTTGGGGCCGCGTCTCTTG	0.398												
DNAJC10	54431	broad.mit.edu	37	2	183616508	183616508	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:183616508C>T	uc002uow.1	+	15	1845	c.1430C>T	c.(1429-1431)GCC>GTC	p.A477V	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.A431V|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	477	Thioredoxin 2.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GATTTCTTTGCCCCCGTAAGT	0.373												
COL5A2	1290	broad.mit.edu	37	2	189907948	189907948	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:189907948C>T	uc002uqk.2	-	48	3675	c.3400G>A	c.(3400-3402)GGA>AGA	p.G1134R	COL5A2_uc010frx.2_Missense_Mutation_p.G710R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1134					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)			CCTCGGTCTCCATGATCACCT	0.438												
ANKAR	150709	broad.mit.edu	37	2	190592776	190592776	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:190592776G>A	uc002uqw.1	+	12	2617	c.2617G>A	c.(2617-2619)GCA>ACA	p.A873T	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.A40T	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	944						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TATACAGAAAGCATTTCTGGA	0.343												
STAT4	6775	broad.mit.edu	37	2	191898350	191898350	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:191898350T>C	uc002usm.1	-	20	1972	c.1718A>G	c.(1717-1719)TAT>TGT	p.Y573C	STAT4_uc002usn.1_Missense_Mutation_p.Y573C|STAT4_uc010zgk.1_Missense_Mutation_p.Y418C|STAT4_uc002uso.2_Missense_Mutation_p.Y573C	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	573	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)			GCCCATGACATACCTAAAAAT	0.353												
CCDC150	284992	broad.mit.edu	37	2	197594735	197594735	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:197594735C>T	uc002utp.1	+	25	3010	c.2875C>T	c.(2875-2877)CAG>TAG	p.Q959*	CCDC150_uc010zgs.1_Nonsense_Mutation_p.Q606*	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	959											0						GAAAGAGATGCAGATGTTGGC	0.453												
BZW1	9689	broad.mit.edu	37	2	201685956	201685956	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:201685956G>A	uc010zhg.1	+	11	1304	c.1252G>A	c.(1252-1254)GTT>ATT	p.V418I	BZW1_uc002uwc.2_Missense_Mutation_p.V320I	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	386	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0						AGATGCACATGTTGCAAAGGG	0.388												
ALS2	57679	broad.mit.edu	37	2	202589068	202589068	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:202589068C>T	uc002uyo.2	-	21	3818	c.3462G>A	c.(3460-3462)CAG>CAA	p.Q1154Q	ALS2_uc002uyp.3_Silent_p.Q1154Q|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1154	MORN 5.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						CCATTACCCACTGGCCAATGA	0.408												
BMPR2	659	broad.mit.edu	37	2	203242243	203242243	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:203242243T>C	uc002uzf.3	+	1	1194	c.46T>C	c.(46-48)TGG>CGG	p.W16R	BMPR2_uc010ftr.2_Missense_Mutation_p.W16R|BMPR2_uc002uze.2_Missense_Mutation_p.W16R	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	16					anterior/posterior pattern formation|BMP signaling pathway|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			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						CTGGCTACCATGGACCATCCT	0.662												
ZDBF2	57683	broad.mit.edu	37	2	207174279	207174279	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:207174279C>T	uc002vbp.2	+	5	5277	c.5027C>T	c.(5026-5028)ACG>ATG	p.T1676M		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1676							nucleic acid binding|zinc ion binding			ovary(3)	3						TCTCATCGAACGACTCACCGA	0.408												
FN1	2335	broad.mit.edu	37	2	216240092	216240092	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:216240092C>T	uc002vfa.2	-	38	6268	c.6002G>A	c.(6001-6003)CGT>CAT	p.R2001H	FN1_uc002vfb.2_Missense_Mutation_p.R1820H|FN1_uc002vfc.2_Missense_Mutation_p.R1820H|FN1_uc002vfd.2_Missense_Mutation_p.R2001H|FN1_uc002vfe.2_Missense_Mutation_p.R1910H|FN1_uc002vff.2_Missense_Mutation_p.R1910H|FN1_uc002vfg.2_Missense_Mutation_p.R1820H|FN1_uc002vfh.2_Missense_Mutation_p.R1820H|FN1_uc002vfi.2_Missense_Mutation_p.R2001H|FN1_uc002vfj.2_Missense_Mutation_p.R1911H|FN1_uc002vez.2_Missense_Mutation_p.R195H|FN1_uc010zjp.1_Missense_Mutation_p.R538H|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.R363H|FN1_uc010fvd.1_Missense_Mutation_p.R92H	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1910	Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 15.				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)	GGCCAGGAAACGCAGGTTGGA	0.488												
FN1	2335	broad.mit.edu	37	2	216288950	216288950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:216288950G>A	uc002vfa.2	-	8	1401	c.1135C>T	c.(1135-1137)CGA>TGA	p.R379*	FN1_uc002vfb.2_Nonsense_Mutation_p.R379*|FN1_uc002vfc.2_Nonsense_Mutation_p.R379*|FN1_uc002vfd.2_Nonsense_Mutation_p.R379*|FN1_uc002vfe.2_Nonsense_Mutation_p.R379*|FN1_uc002vff.2_Nonsense_Mutation_p.R379*|FN1_uc002vfg.2_Nonsense_Mutation_p.R379*|FN1_uc002vfh.2_Nonsense_Mutation_p.R379*|FN1_uc002vfi.2_Nonsense_Mutation_p.R379*|FN1_uc002vfj.2_Nonsense_Mutation_p.R379*|FN1_uc002vfl.2_Nonsense_Mutation_p.R379*	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	379	Fibronectin type-II 1.|Collagen-binding.				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)	CCGTCCTGTCGCCCTTCTGTG	0.512												
ARPC2	10109	broad.mit.edu	37	2	219114643	219114643	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:219114643A>G	uc002vhd.2	+	10	989	c.877A>G	c.(877-879)ACG>GCG	p.T293A	ARPC2_uc002vhe.2_Missense_Mutation_p.T293A|ARPC2_uc002vhf.2_Missense_Mutation_p.T179A	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	293				MKTITGKTFSSR -> KI (in Ref. 6; AAF71122).	cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GAAAACAATCACGTAAGTTAG	0.552												
IHH	3549	broad.mit.edu	37	2	219920027	219920027	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:219920027C>T	uc002vjo.1	-	3	1138	c.1138G>A	c.(1138-1140)GGT>AGT	p.G380S		NM_002181	NP_002172	Q14623	IHH_HUMAN	Indian hedgehog homolog precursor	380					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)	1		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAATGCACACCCTCCCCCGGA	0.652												
STK16	8576	broad.mit.edu	37	2	220111418	220111418	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:220111418T>C	uc002vko.2	+	3	283	c.126T>C	c.(124-126)GAT>GAC	p.D42D	GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.1_Silent_p.D42D|STK16_uc010fwf.2_Silent_p.D42D|STK16_uc002vkp.2_Silent_p.D42D|STK16_uc002vkr.2_5'UTR|STK16_uc002vkq.2_Silent_p.D87D	NM_001008910	NP_001008910	O75716	STK16_HUMAN	serine/threonine kinase 16	42	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTTACATGATGGACACTTCT	0.567												
OBSL1	23363	broad.mit.edu	37	2	220432517	220432517	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:220432517C>A	uc010fwk.2	-	3	1514	c.1457G>T	c.(1456-1458)GGG>GTG	p.G486V	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.G486V|OBSL1_uc002vmj.2_Missense_Mutation_p.G73V	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	486					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)		TCGGGTGACCCCTGGAAGGAC	0.627												
COL4A4	1286	broad.mit.edu	37	2	227872902	227872902	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:227872902C>T	uc010zlt.1	-	46	5295	c.4641G>A	c.(4639-4641)GCG>GCA	p.A1547A		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	1547	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGGGAGGGGCGCAGCGCTGG	0.637												
DNER	92737	broad.mit.edu	37	2	230377497	230377497	+	Splice_Site	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:230377497A>T	uc002vpv.2	-	6	1294	c.1147_splice	c.e6+1	p.G383_splice	DNER_uc010zly.1_Splice_Site_p.G111_splice	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing						central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TATGTGTCGTACCAGGAAGGC	0.358												
PDE6D	5147	broad.mit.edu	37	2	232597710	232597710	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:232597710G>A	uc002vse.1	-	5	555	c.405C>T	c.(403-405)GAC>GAT	p.D135D		NM_002601	NP_002592	O43924	PDE6D_HUMAN	phosphodiesterase 6D	135					regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		GAAGATCGTCGTCAAAAAACT	0.383												
ALPP	250	broad.mit.edu	37	2	233244553	233244553	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:233244553C>T	uc002vsq.2	+	5	729	c.564C>T	c.(562-564)CGC>CGT	p.R188R	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	188						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CGGTGAACCGCAACTGGTACT	0.637												
USP40	55230	broad.mit.edu	37	2	234436178	234436178	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:234436178G>T	uc010zmr.1	-	12	1633	c.1633C>A	c.(1633-1635)CTG>ATG	p.L545M	USP40_uc010zmt.1_Missense_Mutation_p.L189M	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	533					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TGAGGGCCCAGGTGAAGATGC	0.388												
HJURP	55355	broad.mit.edu	37	2	234749733	234749733	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:234749733G>A	uc002vvg.2	-	8	1759	c.1693C>T	c.(1693-1695)CCA>TCA	p.P565S	HJURP_uc010znd.1_Missense_Mutation_p.P504S|HJURP_uc010zne.1_Missense_Mutation_p.P473S	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	565					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCTTTATCTGGGACTGAAAGA	0.448												
COPS8	10920	broad.mit.edu	37	2	238002771	238002771	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:238002771G>A	uc002vwh.2	+	5	894	c.370G>A	c.(370-372)GCG>ACG	p.A124T	COPS8_uc010fys.1_RNA|COPS8_uc002vwg.2_Missense_Mutation_p.A75T|COPS8_uc002vwi.2_Missense_Mutation_p.A124T	NM_006710	NP_006701	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8 isoform 1	124	PCI.				cullin deneddylation	cytoplasm|signalosome				ovary(1)	1		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		GGTCTCTCAAGCGTATACTTC	0.458												
ESPNL	339768	broad.mit.edu	37	2	239009114	239009114	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:239009114G>T	uc002vxq.3	+	1	164	c.54G>T	c.(52-54)TTG>TTT	p.L18F		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	18	ANK 1.									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)		TGGCGACGTTGGAGCGGCTGC	0.711												
GPC1	2817	broad.mit.edu	37	2	241401687	241401687	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:241401687G>A	uc002vyw.3	+	3	626	c.405G>A	c.(403-405)ACG>ACA	p.T135T		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	135					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		AGCTGTACACGCAGAACGCGA	0.677												
AQP12B	653437	broad.mit.edu	37	2	241622122	241622122	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:241622122C>T	uc010fzj.2	-	1	196	c.133G>A	c.(133-135)GTG>ATG	p.V45M	AQP12B_uc002vzt.2_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	aquaporin 12B	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane	transporter activity				0		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCGAGCTGCACCGCGCCCACC	0.687												
SDCBP2	27111	broad.mit.edu	37	20	1294128	1294128	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:1294128G>A	uc002wev.3	-	5	369	c.240C>T	c.(238-240)GGC>GGT	p.G80G	SDCBP2_uc002weu.3_5'UTR|SDCBP2_uc010zpq.1_Silent_p.G80G	NM_080489	NP_536737	Q9H190	SDCB2_HUMAN	syndecan binding protein 2 isoform a	80					intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(1)|skin(1)	2						CGGGCCCGGGGCCCGAGACCG	0.716												
NOP56	10528	broad.mit.edu	37	20	2637470	2637470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:2637470C>T	uc002wgh.2	+	10	1263	c.1210C>T	c.(1210-1212)CGA>TGA	p.R404*	NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_Nonsense_Mutation_p.R238*|NOP56_uc002wgm.1_Nonsense_Mutation_p.R151*|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	404	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2						AGTTGAAGAGCGACTGTCCTT	0.507												
AVP	551	broad.mit.edu	37	20	3065237	3065237	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:3065237G>A	uc002whu.2	-	1	134	c.84C>T	c.(82-84)GGC>GGT	p.G28G		NM_000490	NP_000481	P01185	NEU2_HUMAN	arginine vasopressin-neurophysin II	28					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding				0				COAD - Colon adenocarcinoma(99;0.00643)		CCCTCTTGCCGCCCCTCGGGC	0.647												
ATRN	8455	broad.mit.edu	37	20	3565317	3565317	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:3565317A>G	uc002wim.2	+	18	3064	c.2974A>G	c.(2974-2976)ACC>GCC	p.T992A	ATRN_uc002wil.2_Missense_Mutation_p.T992A	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	992	Extracellular (Potential).|PSI 4.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						AGGCTACTGTACCTGTAGTCA	0.393												
GPCPD1	56261	broad.mit.edu	37	20	5550861	5550861	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:5550861C>T	uc002wme.3	-	12	1294	c.1081G>A	c.(1081-1083)GTA>ATA	p.V361I	GPCPD1_uc002wmd.3_Missense_Mutation_p.V180I	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	361	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						GAAAGGTGTACGTCAAATTCT	0.383												
FERMT1	55612	broad.mit.edu	37	20	6077604	6077604	+	Missense_Mutation	SNP	G	G	A	rs150581071		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:6077604G>A	uc002wmr.2	-	8	1823	c.1034C>T	c.(1033-1035)GCG>GTG	p.A345V	FERMT1_uc002wmq.2_5'Flank|FERMT1_uc010gbt.2_Missense_Mutation_p.A88V|FERMT1_uc002wms.2_Missense_Mutation_p.A345V|FERMT1_uc002wmt.2_Missense_Mutation_p.A88V	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	345	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						AGAAAGCGCCGCTTCTATTTC	0.428												
PCSK2	5126	broad.mit.edu	37	20	17434430	17434430	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:17434430A>G	uc002wpm.2	+	9	1249	c.929A>G	c.(928-930)GAC>GGC	p.D310G	PCSK2_uc002wpl.2_Missense_Mutation_p.D291G|PCSK2_uc010zrm.1_Missense_Mutation_p.D275G	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	310	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)	GCCTCCGGGGACGGCGGCAGC	0.672												
SNX5	27131	broad.mit.edu	37	20	17937628	17937628	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:17937628T>C	uc002wqc.2	-	2	191	c.105A>G	c.(103-105)ATA>ATG	p.I35M	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Missense_Mutation_p.I35M|SNX5_uc002wqe.2_Translation_Start_Site|SNX5_uc010zrt.1_Missense_Mutation_p.I35M	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	35	PX.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1						GCGCATCAGGTATGTCAATCT	0.413												
NKX2-2	4821	broad.mit.edu	37	20	21492919	21492919	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:21492919G>A	uc002wsi.2	-	2	821	c.464C>T	c.(463-465)GCG>GTG	p.A155V		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	155	Homeobox.				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						GCGCTCGGGCGCCGACAGGTA	0.672												
NKX2-2	4821	broad.mit.edu	37	20	21492938	21492938	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:21492938G>A	uc002wsi.2	-	2	802	c.445C>T	c.(445-447)CAG>TAG	p.Q149*		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	149	Homeobox.				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						TACCGCTGCTGCCGAAAGCGC	0.672												
TPX2	22974	broad.mit.edu	37	20	30381659	30381659	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:30381659C>T	uc002wwp.1	+	14	2216	c.1518C>T	c.(1516-1518)GAC>GAT	p.D506D	TPX2_uc010gdv.1_Silent_p.D542D	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	506					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)			AGGAAGAGGACGAACCGGTAG	0.438												
HCK	3055	broad.mit.edu	37	20	30689165	30689165	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:30689165G>A	uc002wxh.2	+	13	1595	c.1424G>A	c.(1423-1425)CGG>CAG	p.R475Q	HCK_uc010gdy.2_Missense_Mutation_p.R454Q|HCK_uc002wxi.2_Missense_Mutation_p.R453Q	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	475	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGTGGATACCGGATGCCTCGC	0.557												
DNMT3B	1789	broad.mit.edu	37	20	31375119	31375119	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:31375119C>T	uc002wyc.2	+	6	837	c.516C>T	c.(514-516)GAC>GAT	p.D172D	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.D172D|DNMT3B_uc002wye.2_Silent_p.D172D|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.D130D|DNMT3B_uc010zua.1_Silent_p.D96D|DNMT3B_uc002wyf.2_Silent_p.D184D	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	172	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						ACCTCACAGACGACACAGAGG	0.652												
ITCH	83737	broad.mit.edu	37	20	33095507	33095507	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:33095507C>T	uc010geu.1	+	26	2812	c.2620C>T	c.(2620-2622)CGC>TGC	p.R874C	ITCH_uc002xak.2_Missense_Mutation_p.R833C|ITCH_uc010zuj.1_Missense_Mutation_p.R723C	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	874	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						TAGTTTTAATCGCCTGGACCT	0.363												
MYH7B	57644	broad.mit.edu	37	20	33588098	33588098	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:33588098G>A	uc002xbi.1	+	37	5002	c.4910G>A	c.(4909-4911)CGC>CAC	p.R1637H		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1595	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCCCATAGGCGCAACCACCAG	0.582												
EDEM2	55741	broad.mit.edu	37	20	33703692	33703692	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:33703692C>T	uc002xbo.2	-	11	1381	c.1281G>A	c.(1279-1281)TCG>TCA	p.S427S	EDEM2_uc010zus.1_Silent_p.S206S|EDEM2_uc002xbq.2_Silent_p.S390S|EDEM2_uc010zut.1_Silent_p.S386S|EDEM2_uc002xbp.2_Silent_p.S275S|EDEM2_uc002xbn.2_Silent_p.S275S|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Silent_p.S151S	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like	427					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCAGGAAGAACGACTCCATGC	0.498												
ERGIC3	51614	broad.mit.edu	37	20	34144821	34144821	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:34144821C>T	uc002xct.2	+	11	1026	c.957C>T	c.(955-957)CCC>CCT	p.P319P	ERGIC3_uc002xcs.2_Silent_p.P324P|ERGIC3_uc002xcu.2_Silent_p.P334P|ERGIC3_uc002xcv.2_Silent_p.P282P	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	319	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AAGGCCTTCCCGGAGTCTTCG	0.612												
EPB41L1	2036	broad.mit.edu	37	20	34797802	34797802	+	Silent	SNP	G	G	A	rs142392996		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:34797802G>A	uc002xfb.2	+	15	2232	c.2061G>A	c.(2059-2061)CCG>CCA	p.P687P	EPB41L1_uc002xeu.2_Silent_p.P613P|EPB41L1_uc010zvo.1_Silent_p.P687P|EPB41L1_uc002xev.2_Silent_p.P687P|EPB41L1_uc002xew.2_Silent_p.P578P|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Silent_p.P613P|EPB41L1_uc010gfq.2_Silent_p.P786P	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	687					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					GCTCCACCCCGGATATGCCCC	0.657												
C20orf4	25980	broad.mit.edu	37	20	34832791	34832791	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:34832791C>T	uc002xfc.1	+	3	1023	c.930C>T	c.(928-930)CCC>CCT	p.P310P	C20orf4_uc002xfd.1_Silent_p.P310P|C20orf4_uc002xfe.1_Silent_p.P310P	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	310											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				GTGAGATCCCCGCTGACTTCT	0.527												
VSTM2L	128434	broad.mit.edu	37	20	36572486	36572486	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:36572486A>G	uc002xhk.3	+	4	700	c.446A>G	c.(445-447)GAC>GGC	p.D149G		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	149	Ig-like.									ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				GACTTCAGCGACGGCAAGGCC	0.607												
SLC32A1	140679	broad.mit.edu	37	20	37353748	37353748	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:37353748C>T	uc002xjc.2	+	1	644	c.381C>T	c.(379-381)AAC>AAT	p.N127N		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	127	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ACGTGACCAACGCCATCCAGG	0.682												
PLCG1	5335	broad.mit.edu	37	20	39792806	39792806	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:39792806G>A	uc002xjp.1	+	12	1303	c.1182G>A	c.(1180-1182)CTG>CTA	p.L394L	PLCG1_uc002xjo.1_Silent_p.L394L|PLCG1_uc010zwe.1_Silent_p.L20L|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	394	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				CAGATGTCCTGCACACCATCA	0.562												
CHD6	84181	broad.mit.edu	37	20	40050403	40050403	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:40050403C>A	uc002xka.1	-	31	5050	c.4872G>T	c.(4870-4872)CAG>CAT	p.Q1624H		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1624					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				TTCCTGGTGCCTGGGTGCCAG	0.458												
PTPRT	11122	broad.mit.edu	37	20	41408898	41408898	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:41408898G>A	uc002xkg.2	-	4	712	c.528C>T	c.(526-528)TAC>TAT	p.Y176Y	PTPRT_uc010ggj.2_Silent_p.Y176Y	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	176	Extracellular (Potential).|MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCACGGCGATGTAGCCAGGAT	0.517												
MYBL2	4605	broad.mit.edu	37	20	42328684	42328684	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:42328684G>A	uc002xlb.1	+	7	1166	c.951G>A	c.(949-951)TCG>TCA	p.S317S	MYBL2_uc010zwj.1_Silent_p.S293S|MYBL2_uc002xla.1_Silent_p.S317S	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	317						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)			TGATCGAGTCGGTATGTTGGT	0.552												
JPH2	57158	broad.mit.edu	37	20	42789004	42789004	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:42789004G>A	uc002xli.1	-	2	1296	c.423C>T	c.(421-423)TAC>TAT	p.Y141Y		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	141	Gly-rich.|Cytoplasmic (Potential).|MORN 6.		Y -> H (in CMH17; results in vacuolization of intracellular structures and cardiomyocyte hypertrophy; affects intracellular calcium handling and homeostasis).		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)			GGCGTACTCCGTAGCCATGGC	0.706												
C20orf111	51526	broad.mit.edu	37	20	42825820	42825820	+	Silent	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:42825820G>T	uc002xlk.2	-	4	888	c.751C>A	c.(751-753)CGA>AGA	p.R251R		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	oxidative stress responsive 1	251											0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAACAGGATCGGGGAGAGCCA	0.517												
YWHAB	7529	broad.mit.edu	37	20	43530233	43530233	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:43530233G>A	uc002xmt.2	+	3	341	c.59G>A	c.(58-60)CGA>CAA	p.R20Q	YWHAB_uc002xmu.2_Missense_Mutation_p.R20Q	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	20					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)				CAGGCTGAGCGATATGATGAT	0.458												
KCNS1	3787	broad.mit.edu	37	20	43727032	43727032	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:43727032G>A	uc002xnc.2	-	4	778	c.381C>T	c.(379-381)GAC>GAT	p.D127D	KCNS1_uc002xnd.2_Silent_p.D127D	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	127	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				CGCACAGCTCGTCGAGCACGT	0.677												
SNX21	90203	broad.mit.edu	37	20	44469499	44469499	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:44469499G>A	uc002xpv.1	+	4	758	c.669G>A	c.(667-669)CTG>CTA	p.L223L	SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Silent_p.L34L|SNX21_uc002xpx.2_Silent_p.L213L|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Silent_p.L34L|SNX21_uc002xpz.1_Silent_p.L34L	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	223	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				TGGGTCACCTGCAGGCAGTGC	0.637												
ELMO2	63916	broad.mit.edu	37	20	45003058	45003058	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:45003058G>A	uc002xrt.1	-	15	1402	c.1192C>T	c.(1192-1194)CGG>TGG	p.R398W	ELMO2_uc010zxq.1_Missense_Mutation_p.R130W|ELMO2_uc002xrs.1_Missense_Mutation_p.R145W|ELMO2_uc002xru.1_Missense_Mutation_p.R398W|ELMO2_uc010zxr.1_Missense_Mutation_p.R410W|ELMO2_uc010zxs.1_Missense_Mutation_p.R215W|ELMO2_uc002xrv.1_Missense_Mutation_p.R117W|ELMO2_uc002xrw.2_Missense_Mutation_p.R215W	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	398	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TTGTCTTCCCGGCTACTGTTC	0.527												
ZMYND8	23613	broad.mit.edu	37	20	45874842	45874842	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:45874842C>T	uc002xta.1	-	14	2388	c.2134G>A	c.(2134-2136)GAA>AAA	p.E712K	ZMYND8_uc010ghq.1_Missense_Mutation_p.E389K|ZMYND8_uc010ghr.1_Missense_Mutation_p.E687K|ZMYND8_uc002xst.1_Missense_Mutation_p.E640K|ZMYND8_uc002xsu.1_Missense_Mutation_p.E712K|ZMYND8_uc002xsv.1_Missense_Mutation_p.E640K|ZMYND8_uc002xsw.1_Missense_Mutation_p.E464K|ZMYND8_uc002xsx.1_Missense_Mutation_p.E464K|ZMYND8_uc002xsy.1_Missense_Mutation_p.E687K|ZMYND8_uc002xsz.1_Missense_Mutation_p.E649K|ZMYND8_uc010zxy.1_Missense_Mutation_p.E739K|ZMYND8_uc002xtb.1_Missense_Mutation_p.E732K|ZMYND8_uc002xss.2_Missense_Mutation_p.E712K|ZMYND8_uc010zxz.1_Missense_Mutation_p.E707K|ZMYND8_uc002xtc.1_Missense_Mutation_p.E732K|ZMYND8_uc002xtd.1_Missense_Mutation_p.E707K|ZMYND8_uc002xte.1_Missense_Mutation_p.E712K|ZMYND8_uc010zya.1_Missense_Mutation_p.E712K|ZMYND8_uc002xtf.1_Missense_Mutation_p.E732K|ZMYND8_uc002xtg.2_Missense_Mutation_p.E706K|ZMYND8_uc010ghs.1_Missense_Mutation_p.E706K	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	712							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATGACAAGTTCGCTCTCTGAA	0.463												
SULF2	55959	broad.mit.edu	37	20	46305272	46305272	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:46305272G>A	uc002xto.2	-	10	1676	c.1346C>T	c.(1345-1347)GCT>GTT	p.A449V	SULF2_uc002xtr.2_Missense_Mutation_p.A449V|SULF2_uc002xtq.2_Missense_Mutation_p.A449V	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	449					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CTGGTACTCAGCACGCTGACA	0.602												
SLC9A8	23315	broad.mit.edu	37	20	48500458	48500458	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:48500458G>A	uc002xuv.1	+	14	1556	c.1346G>A	c.(1345-1347)GGC>GAC	p.G449D	SLC9A8_uc010zym.1_Missense_Mutation_p.G149D|SLC9A8_uc010gic.2_Missense_Mutation_p.G149D|SLC9A8_uc010gid.2_Missense_Mutation_p.G73D	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	449						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CAGCTCATCGGCACCACCACC	0.627												
KCNG1	3755	broad.mit.edu	37	20	49621005	49621005	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:49621005G>A	uc002xwa.3	-	3	1408	c.1113C>T	c.(1111-1113)CGC>CGT	p.R371R		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	371	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						GGGTGCAGCGGCGGGCCGTGA	0.706												
NFATC2	4773	broad.mit.edu	37	20	50051780	50051780	+	Silent	SNP	G	G	A	rs142900177		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:50051780G>A	uc002xwd.2	-	8	2197	c.1977C>T	c.(1975-1977)TAC>TAT	p.Y659Y	NFATC2_uc002xwc.2_Silent_p.Y659Y|NFATC2_uc010zyv.1_Silent_p.Y440Y|NFATC2_uc010zyw.1_Silent_p.Y440Y|NFATC2_uc010zyx.1_Silent_p.Y639Y|NFATC2_uc010zyy.1_Silent_p.Y440Y|NFATC2_uc010zyz.1_Silent_p.Y440Y|NFATC2_uc002xwe.2_Silent_p.Y639Y	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	659					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					CATTGATGACGTAGAAGTTCA	0.393												
CASS4	57091	broad.mit.edu	37	20	55033576	55033576	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:55033576G>T	uc002xxp.2	+	7	2359	c.2134G>T	c.(2134-2136)GTG>TTG	p.V712L	CASS4_uc002xxr.2_Missense_Mutation_p.V712L|CASS4_uc010zze.1_Missense_Mutation_p.V658L|CASS4_uc010gio.2_Missense_Mutation_p.V275L	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	712					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GGTCATCATGGTGGGACAGAA	0.602												
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:57484420C>T	uc002xzw.2	+	8	2815	c.2530C>T	c.(2530-2532)CGT>TGT	p.R844C	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R142C|GNAS_uc002xzx.2_Missense_Mutation_p.R142C|GNAS_uc010gjr.2_Missense_Mutation_p.R92C|GNAS_uc002xzy.2_Missense_Mutation_p.R127C|GNAS_uc002yaa.2_Missense_Mutation_p.R187C|GNAS_uc010zzt.1_Missense_Mutation_p.R202C|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R92C|GNAS_uc002yae.2_Missense_Mutation_p.R126C	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	201	GTP (By similarity).		R -> L (in non-MAS endocrine tumors).|R -> S (in AIMAH, pituitary tumor and polyostotic fibrous dysplasia).|R -> H (in MAS, somatotrophinoma and AIMAH).|R -> G (in MAS).		activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(182)|p.R201S(5)		pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
NTSR1	4923	broad.mit.edu	37	20	61391412	61391412	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:61391412C>T	uc002ydf.2	+	4	1421	c.1050C>T	c.(1048-1050)AAC>AAT	p.N350N		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	350	Helical; Name=7; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TGGTGACCAACGCACTCTTCT	0.572												
OGFR	11054	broad.mit.edu	37	20	61443913	61443913	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:61443913C>A	uc002ydj.2	+	7	981	c.946C>A	c.(946-948)CCC>ACC	p.P316T	OGFR_uc002ydk.2_Missense_Mutation_p.P299T|OGFR_uc002ydl.2_Missense_Mutation_p.P264T	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	316					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					GGAAGGAAGCCCCGGGGACCC	0.692												
YTHDF1	54915	broad.mit.edu	37	20	61835025	61835025	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:61835025G>A	uc002yeh.2	-	4	561	c.267C>T	c.(265-267)TAC>TAT	p.Y89Y	YTHDF1_uc011aaq.1_Silent_p.Y39Y	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	89										ovary(2)	2						TGAGCTGTCCGTAGGTGGTGA	0.522												
PRIC285	85441	broad.mit.edu	37	20	62192526	62192526	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:62192526A>G	uc002yfm.2	-	15	7947	c.7055T>C	c.(7054-7056)CTG>CCG	p.L2352P	PRIC285_uc002yfl.1_Missense_Mutation_p.L1783P	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	2352					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)			CCTCACGTCCAGGATTTTGAG	0.597												
PRIC285	85441	broad.mit.edu	37	20	62195546	62195546	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:62195546G>A	uc002yfm.2	-	9	5521	c.4629C>T	c.(4627-4629)AGC>AGT	p.S1543S	PRIC285_uc002yfl.1_Silent_p.S974S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1543					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)			GCGTGCACTCGCTGCCCACCA	0.652												
DNAJC5	80331	broad.mit.edu	37	20	62559718	62559718	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:62559718G>A	uc002yhf.2	+	2	190	c.20G>A	c.(19-21)CGC>CAC	p.R7H	DNAJC5_uc002yhg.1_Missense_Mutation_p.R7H|DNAJC5_uc002yhh.2_RNA	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	7					neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			pancreas(1)	1	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGAGACAGCGCTCACTGTCT	0.438												
ADAMTS1	9510	broad.mit.edu	37	21	28216636	28216636	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:28216636G>A	uc002ymf.2	-	1	1093	c.638C>T	c.(637-639)ACC>ATC	p.T213I		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	213					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		CTCGTCTTCGGTCTCCGCTTT	0.682											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RNF160	26046	broad.mit.edu	37	21	30353447	30353447	+	Silent	SNP	T	T	C	rs144877616		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:30353447T>C	uc002ymr.2	-	6	955	c.942A>G	c.(940-942)GTA>GTG	p.V314V	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	268							ligase activity|zinc ion binding				0						ATACCTGAGGTACACTGTGTT	0.308												
OLIG2	10215	broad.mit.edu	37	21	34399432	34399432	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:34399432T>G	uc002yqx.1	+	2	420	c.262T>G	c.(262-264)TCG>GCG	p.S88A		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	88	Poly-Ser.					cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2						GTCTACGTCGTCGGCGGCTGC	0.632			T	TRA@	T-ALL							
DOPEY2	9980	broad.mit.edu	37	21	37653908	37653908	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:37653908A>G	uc002yvg.2	+	32	6238	c.6159A>G	c.(6157-6159)CAA>CAG	p.Q2053Q	DOPEY2_uc011aeb.1_Silent_p.Q2002Q	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2053					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CACTGATACAAGGTAAGACAG	0.244												
SIM2	6493	broad.mit.edu	37	21	38098537	38098537	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:38098537G>A	uc002yvr.2	+	6	717	c.661G>A	c.(661-663)GCC>ACC	p.A221T	SIM2_uc002yvq.2_Missense_Mutation_p.A221T	NM_005069	NP_005060	Q14190	SIM2_HUMAN	single-minded homolog 2 long isoform	221	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1						GCCACCCAGTGCCATCACCGA	0.552												
TMPRSS3	64699	broad.mit.edu	37	21	43803162	43803162	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:43803162A>G	uc002zbb.2	-	8	963	c.762T>C	c.(760-762)ACT>ACC	p.T254T	TMPRSS3_uc002zay.2_5'UTR|TMPRSS3_uc002zaz.2_Silent_p.T127T|TMPRSS3_uc002zba.2_Silent_p.T127T|TMPRSS3_uc002zbc.2_Silent_p.T254T|TMPRSS3_uc002zbd.2_Silent_p.T254T	NM_024022	NP_076927	P57727	TMPS3_HUMAN	transmembrane protease, serine 3 isoform 1	254	Peptidase S1.|Extracellular (Potential).				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			ovary(2)|breast(1)	3						AGTGTGCAGCAGTGATGATCC	0.592												
TRPM2	7226	broad.mit.edu	37	21	45810896	45810896	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:45810896G>C	uc002zet.1	+	11	1641	c.1428G>C	c.(1426-1428)GAG>GAC	p.E476D	TRPM2_uc002zeu.1_Missense_Mutation_p.E476D|TRPM2_uc002zew.1_Missense_Mutation_p.E476D|TRPM2_uc010gpt.1_Missense_Mutation_p.E476D|TRPM2_uc002zex.1_Missense_Mutation_p.E262D|TRPM2_uc002zey.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	476	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCATGGATGAGTGGCAGTGGA	0.572												
KRTAP10-11	386678	broad.mit.edu	37	21	46066846	46066846	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:46066846T>C	uc002zfr.3	+	1	516	c.471T>C	c.(469-471)TGT>TGC	p.C157C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198692	NP_941965	P60412	KR10B_HUMAN	keratin associated protein 10-11	157	25 X 5 AA repeats of C-C-X(3).|15.					keratin filament				ovary(1)	1						CTGTGTGCTGTGTGTCCACCT	0.358												
SLC19A1	6573	broad.mit.edu	37	21	46951771	46951771	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:46951771G>A	uc002zhl.1	-	3	600	c.481C>T	c.(481-483)CTG>TTG	p.L161L	SLC19A1_uc010gpy.1_Silent_p.L161L|SLC19A1_uc011aft.1_Silent_p.L121L|SLC19A1_uc002zhm.1_Silent_p.L161L|SLC19A1_uc010gpz.1_Silent_p.L40L	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	161	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ACGCCCAGCAGCACCGCAGCG	0.662												
FTCD	10841	broad.mit.edu	37	21	47571484	47571484	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:47571484G>A	uc002zif.2	-	5	668	c.624C>T	c.(622-624)CGC>CGT	p.R208R	FTCD_uc002zig.2_Silent_p.R208R|FTCD_uc002zih.2_Silent_p.R208R|FTCD_uc010gqf.2_Silent_p.R208R|FTCD_uc010gqg.1_Silent_p.R77R	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	208	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GGTCCTTCCCGCGGCCCTGCT	0.652												
LSS	4047	broad.mit.edu	37	21	47635602	47635602	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:47635602A>G	uc002zij.2	-	8	968	c.889T>C	c.(889-891)TAT>CAT	p.Y297H	LSS_uc011afv.1_Missense_Mutation_p.Y286H|LSS_uc002zil.2_Missense_Mutation_p.Y297H|LSS_uc002zik.2_Missense_Mutation_p.Y217H	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	297					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					CGCTCACCATATACCACGCGG	0.667												
PCNT	5116	broad.mit.edu	37	21	47831877	47831877	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:47831877G>A	uc002zji.3	+	28	5997	c.5890G>A	c.(5890-5892)GCC>ACC	p.A1964T	PCNT_uc002zjj.2_Missense_Mutation_p.A1846T	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1964					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GGTGCCCGGGGCCCACCCACA	0.701												
RTN4R	65078	broad.mit.edu	37	22	20230572	20230572	+	Silent	SNP	T	T	G	rs141485735	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:20230572T>G	uc002zrv.2	-	2	285	c.84A>C	c.(82-84)CCA>CCC	p.P28P	RTN4R_uc002zru.2_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor precursor	28	LRRNT.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity				0	Colorectal(54;0.0993)					CGCAGGCACCTGGGCATGGGG	0.672												
LZTR1	8216	broad.mit.edu	37	22	21345966	21345966	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:21345966C>A	uc002zto.2	+	9	944	c.841C>A	c.(841-843)CCG>ACG	p.P281T	LZTR1_uc002ztn.2_Missense_Mutation_p.P240T|LZTR1_uc011ahy.1_Missense_Mutation_p.P262T|LZTR1_uc010gsr.1_Missense_Mutation_p.P152T	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	281	Kelch 4.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.P281L(1)		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)			CCCACCACCCCCGCAGCGGCG	0.637												
SLC7A4	6545	broad.mit.edu	37	22	21385709	21385709	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:21385709G>A	uc002zud.2	-	2	461	c.393C>T	c.(391-393)GCC>GCT	p.A131A	SLC7A4_uc002zue.2_Silent_p.A131A	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	131	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGGCCACGGCGGCGCCACCGA	0.612												
VPREB1	7441	broad.mit.edu	37	22	22599374	22599374	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:22599374G>A	uc002zvx.1	+	2	89	c.63G>A	c.(61-63)CCG>CCA	p.P21P	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	21	Framework-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		GTCCTCAGCCGGTGCTGCATC	0.627												
PRAME	23532	broad.mit.edu	37	22	22892314	22892314	+	Missense_Mutation	SNP	G	G	A	rs41277505	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:22892314G>A	uc002zwf.2	-	4	943	c.787C>T	c.(787-789)CGT>TGT	p.R263C	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.R247C|PRAME_uc010gtr.2_Missense_Mutation_p.R263C|PRAME_uc002zwg.2_Missense_Mutation_p.R263C|PRAME_uc002zwh.2_Missense_Mutation_p.R263C|PRAME_uc002zwi.2_Missense_Mutation_p.R263C|PRAME_uc002zwj.2_Missense_Mutation_p.R263C|PRAME_uc002zwk.2_Missense_Mutation_p.R263C	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	263					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGGAGTCTACGCAGATTAATC	0.498												
PIWIL3	440822	broad.mit.edu	37	22	25155867	25155867	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:25155867T>G	uc003abd.1	-	3	609	c.192A>C	c.(190-192)AGA>AGC	p.R64S	PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc011ajy.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.R64S	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	64					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						CTGCTCCTCCTCTTGCTGCTC	0.587												
SGSM1	129049	broad.mit.edu	37	22	25294157	25294157	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:25294157G>A	uc003abg.2	+	20	2563	c.2406G>A	c.(2404-2406)ACG>ACA	p.T802T	SGSM1_uc003abh.2_Silent_p.T741T|SGSM1_uc010guu.1_Silent_p.T747T|SGSM1_uc003abj.2_Silent_p.T686T|SGSM1_uc003abi.1_Silent_p.T722T	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	802	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						ACACCCCCACGGTGCTGCGAC	0.627												
CRYBB3	1417	broad.mit.edu	37	22	25597378	25597378	+	Silent	SNP	C	C	T	rs149884520		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:25597378C>T	uc003abo.1	+	2	87	c.15C>T	c.(13-15)CAC>CAT	p.H5H		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	5	N-terminal arm.				visual perception		protein binding|structural constituent of eye lens				0						CGGAACAGCACGGAGCACCCG	0.597												
ZNRF3	84133	broad.mit.edu	37	22	29446260	29446260	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:29446260C>T	uc003aeg.2	+	8	1956	c.1791C>T	c.(1789-1791)CTC>CTT	p.L597L	ZNRF3_uc003aeh.1_Silent_p.L597L	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	697	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						CCCCTGACCTCAGGAGGACCT	0.677												
EWSR1	2130	broad.mit.edu	37	22	29693934	29693934	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:29693934G>A	uc003aet.2	+	13	1740	c.1412G>A	c.(1411-1413)CGT>CAT	p.R471H	EWSR1_uc003aev.2_Missense_Mutation_p.R476H|EWSR1_uc003aew.2_Missense_Mutation_p.R415H|EWSR1_uc003aex.2_Missense_Mutation_p.R470H|EWSR1_uc003aey.2_Missense_Mutation_p.R266H|EWSR1_uc003aez.2_Missense_Mutation_p.R132H	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	471	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						CCACCACTCCGTGGAGGTACT	0.453			T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma							
AP1B1	162	broad.mit.edu	37	22	29752428	29752428	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:29752428G>A	uc003afj.2	-	6	887	c.703C>T	c.(703-705)CGC>TGC	p.R235C	AP1B1_uc003afi.2_Missense_Mutation_p.R235C|AP1B1_uc003afk.2_Missense_Mutation_p.R235C|AP1B1_uc003afl.2_Missense_Mutation_p.R235C	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	235					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						TGGGCCTCGCGGTCGTCCTTG	0.627												
ASCC2	84164	broad.mit.edu	37	22	30185160	30185160	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:30185160T>C	uc003agr.2	-	20	2221	c.2116A>G	c.(2116-2118)AGC>GGC	p.S706G	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.S706G|ASCC2_uc011akr.1_Missense_Mutation_p.S630G	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GCTGTTGAGCTGTCATGCCGG	0.632												
TCN2	6948	broad.mit.edu	37	22	31011717	31011717	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:31011717G>A	uc003aip.1	+	6	1041	c.883G>A	c.(883-885)GTT>ATT	p.V295I	TCN2_uc003aiq.1_Missense_Mutation_p.V291I|TCN2_uc003air.1_Missense_Mutation_p.V268I	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	295					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTGCTGCCCGTTCTGAACCA	0.522												
LIMK2	3985	broad.mit.edu	37	22	31663021	31663021	+	Missense_Mutation	SNP	T	T	C	rs138769386		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:31663021T>C	uc003akh.2	+	9	1238	c.1093T>C	c.(1093-1095)TGT>CGT	p.C365R	LIMK2_uc003akg.2_Missense_Mutation_p.C282R|LIMK2_uc003aki.2_Missense_Mutation_p.C119R|LIMK2_uc003akj.2_Missense_Mutation_p.C344R|LIMK2_uc003akk.2_Missense_Mutation_p.C344R|LIMK2_uc011aln.1_Missense_Mutation_p.C282R	NM_005569	NP_005560	P53671	LIMK2_HUMAN	LIM domain kinase 2 isoform 2a	365	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2						GTTAATTCGATGTGATGAGGA	0.488												
LARGE	9215	broad.mit.edu	37	22	33700401	33700401	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:33700401C>T	uc003and.3	-	13	2123	c.1544G>A	c.(1543-1545)CGC>CAC	p.R515H	LARGE_uc011amd.1_Missense_Mutation_p.R314H|LARGE_uc003ane.3_Missense_Mutation_p.R515H|LARGE_uc010gwp.2_Missense_Mutation_p.R463H|LARGE_uc011ame.1_Missense_Mutation_p.R447H|LARGE_uc011amf.1_Missense_Mutation_p.R515H	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	515	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				CTGTGCGTAGCGGAGGAACTG	0.627												
APOL2	23780	broad.mit.edu	37	22	36624004	36624004	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:36624004C>T	uc003aoz.2	-	5	796	c.460G>A	c.(460-462)GGT>AGT	p.G154S	APOL2_uc011amm.1_Missense_Mutation_p.G266S|APOL2_uc003apa.2_Missense_Mutation_p.G154S	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN	apolipoprotein L2	154					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding				0						GCTCCCAGACCCATGCCAGTG	0.562												
MYH9	4627	broad.mit.edu	37	22	36678790	36678790	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:36678790C>T	uc003apg.2	-	41	6038	c.5807G>A	c.(5806-5808)CGG>CAG	p.R1936Q		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1936					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GGCGCCTTTCCGGGCCATTCG	0.677			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
TMPRSS6	164656	broad.mit.edu	37	22	37499331	37499331	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:37499331G>A	uc003aqs.1	-	2	268	c.154C>T	c.(154-156)CGC>TGC	p.R52C	TMPRSS6_uc003aqt.1_Missense_Mutation_p.R43C|TMPRSS6_uc003aqu.2_Missense_Mutation_p.R43C	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	52	Cytoplasmic (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6						GGCACCAGGCGGAGGTAGCCC	0.657												
TRIOBP	11078	broad.mit.edu	37	22	38120377	38120377	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:38120377G>A	uc003atr.2	+	7	2085	c.1814G>A	c.(1813-1815)CGG>CAG	p.R605Q	TRIOBP_uc003atu.2_Missense_Mutation_p.R433Q|TRIOBP_uc003atq.1_Missense_Mutation_p.R605Q|TRIOBP_uc003ats.1_Missense_Mutation_p.R433Q	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	605					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					TGTGCCCAGCGGGACAATCCC	0.587												
GALR3	8484	broad.mit.edu	37	22	38221250	38221250	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:38221250G>A	uc003aub.1	+	2	905	c.880G>A	c.(880-882)GCC>ACC	p.A294T		NM_003614	NP_003605	O60755	GALR3_HUMAN	galanin receptor 3	294	Cytoplasmic (Potential).				feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity				0	Melanoma(58;0.045)					CTACGCGCTCGCCTCGCGCCA	0.771												
POLR2F	5435	broad.mit.edu	37	22	38352793	38352793	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:38352793G>A	uc003aul.2	+	2	155	c.34G>A	c.(34-36)GAC>AAC	p.D12N	POLR2F_uc010gxi.2_5'UTR|POLR2F_uc003aum.2_RNA	NM_021974	NP_068809	P61218	RPAB2_HUMAN	DNA directed RNA polymerase II polypeptide F	12					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)	1	Melanoma(58;0.045)					TGATGGCGACGACTTTGATGA	0.408												
MGAT3	4248	broad.mit.edu	37	22	39884756	39884756	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:39884756G>A	uc003axv.3	+	2	1643	c.1404G>A	c.(1402-1404)ACG>ACA	p.T468T	MGAT3_uc010gxy.2_Silent_p.T468T	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	468	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					TCGACGGCACGCAGCAGGAGT	0.632												
FAM83F	113828	broad.mit.edu	37	22	40417954	40417954	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:40417954T>C	uc003ayk.1	+	4	1534	c.1440T>C	c.(1438-1440)AGT>AGC	p.S480S		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	480										breast(1)	1						AGAATTCCAGTGCTGACATCT	0.627												
MKL1	57591	broad.mit.edu	37	22	40814976	40814976	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:40814976A>G	uc003ayv.1	-	9	1673	c.1466T>C	c.(1465-1467)CTG>CCG	p.L489P	MKL1_uc003ayw.1_Missense_Mutation_p.L489P|MKL1_uc010gye.1_Missense_Mutation_p.L489P|MKL1_uc010gyf.1_Missense_Mutation_p.L439P	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	489					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CGAGGCCTGCAGGGTCAGCTG	0.687			T	RBM15	acute megakaryocytic leukemia							
SULT4A1	25830	broad.mit.edu	37	22	44237735	44237735	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:44237735C>T	uc003bee.1	-	2	363	c.247G>A	c.(247-249)GAC>AAC	p.D83N	SULT4A1_uc003bed.1_Missense_Mutation_p.D4N|SULT4A1_uc003bef.1_RNA|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	83					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)		AGCTGCTCGTCGATGTTCATC	0.622												
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45221431	45221431	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:45221431G>A	uc003bfd.2	+	12	1456	c.1184G>A	c.(1183-1185)CGG>CAG	p.R395Q	PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.R316Q|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.R307Q|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.R221Q|ARHGAP8_uc003bfi.2_Missense_Mutation_p.R185Q|ARHGAP8_uc010gzv.2_Missense_Mutation_p.R185Q|ARHGAP8_uc003bfj.2_Missense_Mutation_p.R216Q|ARHGAP8_uc003bfk.2_Missense_Mutation_p.R185Q|ARHGAP8_uc003bfl.2_RNA	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						CCACCGCCGCGGCCCCCGCTG	0.647												
NUP50	10762	broad.mit.edu	37	22	45571860	45571860	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:45571860C>T	uc003bfr.2	+	4	701	c.239C>T	c.(238-240)GCT>GTT	p.A80V	NUP50_uc003bfs.2_Missense_Mutation_p.A52V|NUP50_uc011aqn.1_Intron|NUP50_uc003bft.2_Missense_Mutation_p.A52V|NUP50_uc011aqo.1_5'Flank	NM_007172	NP_009103	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa isoform b	80	5 X 2 AA repeats of F-G.|Gly-rich.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGTAGTGGCGCTGGAGGGAAG	0.512												
CELSR1	9620	broad.mit.edu	37	22	46859644	46859644	+	Silent	SNP	G	G	A	rs150510873		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:46859644G>A	uc003bhw.1	-	2	4143	c.4143C>T	c.(4141-4143)CGC>CGT	p.R1381R		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1381	Extracellular (Potential).|EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCCGCCCTCGCGGCTGCGGC	0.687												
TUBGCP6	85378	broad.mit.edu	37	22	50657780	50657780	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:50657780A>G	uc003bkb.1	-	19	4933	c.4421T>C	c.(4420-4422)CTG>CCG	p.L1474P	TUBGCP6_uc003bka.1_Missense_Mutation_p.L561P|TUBGCP6_uc010har.1_Missense_Mutation_p.L1466P|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1474					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAACTCGCTCAGCTGCACAGC	0.682												
SBF1	6305	broad.mit.edu	37	22	50900134	50900134	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:50900134C>T	uc003blh.2	-	22	2852	c.2657G>A	c.(2656-2658)CGG>CAG	p.R886Q	SBF1_uc011arx.1_Missense_Mutation_p.R550Q|SBF1_uc003bli.2_Missense_Mutation_p.R887Q	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	886	GRAM.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCGCGGCCGCAGCAGCTT	0.711												
LMF2	91289	broad.mit.edu	37	22	50942064	50942064	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:50942064C>T	uc003blp.2	-	14	1911	c.1880G>A	c.(1879-1881)CGC>CAC	p.R627H	LMF2_uc010hba.2_Missense_Mutation_p.R449H|LMF2_uc003blo.2_Missense_Mutation_p.R602H	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	627						endoplasmic reticulum membrane|integral to membrane				breast(1)	1		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCTGAGAGCGAGTCCAGTG	0.587												
TYMP	1890	broad.mit.edu	37	22	50967735	50967735	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:50967735T>C	uc003bmb.3	-	2	367	c.247A>G	c.(247-249)ATG>GTG	p.M83V	TYMP_uc003bmc.3_Missense_Mutation_p.M83V|TYMP_uc003bmd.3_Missense_Mutation_p.M83V|TYMP_uc010hbd.2_Missense_Mutation_p.M83V|TYMP_uc003bme.3_Missense_Mutation_p.M83V|TYMP_uc003bmf.3_Missense_Mutation_p.M83V|TYMP_uc011arz.1_Missense_Mutation_p.M83V	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	83					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	TCCAGATCCATGCCCCGAAGT	0.682												
TYMP	1890	broad.mit.edu	37	22	50967741	50967741	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:50967741G>A	uc003bmb.3	-	2	361	c.241C>T	c.(241-243)CGG>TGG	p.R81W	TYMP_uc003bmc.3_Missense_Mutation_p.R81W|TYMP_uc003bmd.3_Missense_Mutation_p.R81W|TYMP_uc010hbd.2_Missense_Mutation_p.R81W|TYMP_uc003bme.3_Missense_Mutation_p.R81W|TYMP_uc003bmf.3_Missense_Mutation_p.R81W|TYMP_uc011arz.1_Missense_Mutation_p.R81W	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	81					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	TCCATGCCCCGAAGTCGGATG	0.687												
CPT1B	1375	broad.mit.edu	37	22	51012061	51012061	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:51012061C>T	uc003bmk.3	-	9	1216	c.1054G>A	c.(1054-1056)GCC>ACC	p.A352T	CPT1B_uc003bml.2_Missense_Mutation_p.A352T|CPT1B_uc003bmm.2_Missense_Mutation_p.A352T|CPT1B_uc003bmo.2_Missense_Mutation_p.A352T|CPT1B_uc011asa.1_Missense_Mutation_p.A318T|CPT1B_uc003bmn.2_Missense_Mutation_p.A352T|CPT1B_uc011asb.1_Missense_Mutation_p.A352T|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.A149T	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	352	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AGCAGACGGGCGCCCTCATAG	0.612												
CHL1	10752	broad.mit.edu	37	3	440791	440791	+	Silent	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:440791T>G	uc003bou.2	+	25	3568	c.3297T>G	c.(3295-3297)ACT>ACG	p.T1099T	CHL1_uc003bot.2_Silent_p.T1115T|CHL1_uc003bow.1_Silent_p.T1099T|CHL1_uc011asi.1_Silent_p.T1062T	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	1099	Helical; (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TATTATTAACTGTTTGCTTTG	0.363												
SETMAR	6419	broad.mit.edu	37	3	4345101	4345101	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:4345101A>G	uc011asp.1	+	1	114	c.47A>G	c.(46-48)GAG>GGG	p.E16G	SUMF1_uc003bps.1_Intron|SETMAR_uc003bpw.3_Missense_Mutation_p.E3G|SETMAR_uc003bpy.3_5'UTR|SETMAR_uc011asq.1_Missense_Mutation_p.E3G|SETMAR_uc011asr.1_5'UTR|SETMAR_uc010hbx.2_5'Flank	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion	3	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			ovary(1)	1		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGGATGGCGGAGTTTAAGGAG	0.537								Chromatin_Structure|Direct_reversal_of_damage				
SRGAP3	9901	broad.mit.edu	37	3	9027576	9027576	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:9027576C>T	uc003brf.1	-	22	3603	c.2927G>A	c.(2926-2928)CGG>CAG	p.R976Q	SRGAP3_uc003brg.1_Missense_Mutation_p.R952Q	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	976	Potential.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTCGAGTTCCCGCAACTCGTG	0.642			T	RAF1	pilocytic astrocytoma							
SRGAP3	9901	broad.mit.edu	37	3	9036154	9036154	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:9036154G>A	uc003brf.1	-	19	2957	c.2281C>T	c.(2281-2283)CGT>TGT	p.R761C	SRGAP3_uc003brg.1_Missense_Mutation_p.R737C	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	761	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GATAGCTCACGCGGGGACCGC	0.597			T	RAF1	pilocytic astrocytoma							
FANCD2	2177	broad.mit.edu	37	3	10138154	10138154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:10138154C>T	uc003buw.2	+	42	4261	c.4183C>T	c.(4183-4185)CAG>TAG	p.Q1395*	FANCD2_uc003bux.1_Nonsense_Mutation_p.Q1395*|FANCD2_uc003buy.1_Nonsense_Mutation_p.Q1395*|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Fanconi anemia complementation group D2 isoform	1395					DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCGGGACTTGCAGGTAAGCCT	0.458			D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
C3orf31	132001	broad.mit.edu	37	3	11851061	11851061	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:11851061T>C	uc003bwh.2	-	6	1046	c.804A>G	c.(802-804)AAA>AAG	p.K268K	C3orf31_uc003bwj.2_Silent_p.K268K|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Silent_p.K268K	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	MMP37-like protein, mitochondrial precursor	268					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					0						CATCTCTGTTTTTTCCAGGAG	0.413												
NUP210	23225	broad.mit.edu	37	3	13393426	13393426	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:13393426C>T	uc003bxv.1	-	20	2871	c.2788G>A	c.(2788-2790)GCA>ACA	p.A930T	NUP210_uc003bxw.2_Missense_Mutation_p.A106T|NUP210_uc003bxx.2_Missense_Mutation_p.A602T	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	930	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					ACAACATCTGCGGTGCTGGTG	0.602												
EAF1	85403	broad.mit.edu	37	3	15475880	15475880	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:15475880G>A	uc003bzu.2	+	4	584	c.361G>A	c.(361-363)GCC>ACC	p.A121T	EAF1_uc011avq.1_Missense_Mutation_p.A20T	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN	ELL associated factor 1	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)	1						TAAAATCCAGGCCCGAATGGA	0.438												
COLQ	8292	broad.mit.edu	37	3	15497436	15497436	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:15497436C>T	uc003bzx.2	-	15	1291	c.1165G>A	c.(1165-1167)GGT>AGT	p.G389S	COLQ_uc003bzv.2_Missense_Mutation_p.G379S|COLQ_uc003bzz.2_Missense_Mutation_p.G380S|COLQ_uc010heo.2_Missense_Mutation_p.G355S|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Missense_Mutation_p.G248S|COLQ_uc003cad.1_RNA	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	acetylcholinesterase collagen-like tail subunit	389					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft					0						TCGCTGTTACCGTCGTCACAC	0.637												
PLCL2	23228	broad.mit.edu	37	3	17053062	17053062	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:17053062G>A	uc011awc.1	+	5	2305	c.2200G>A	c.(2200-2202)GCC>ACC	p.A734T	PLCL2_uc011awd.1_Missense_Mutation_p.A616T	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2 isoform 1	742	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(2)|ovary(1)|lung(1)	4						CTTCTTCAGCGCCAATACAAA	0.502												
RPL15	6138	broad.mit.edu	37	3	23959968	23959968	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:23959968C>T	uc003ccn.2	+	3	246	c.210C>T	c.(208-210)GGC>GGT	p.G70G	NKIRAS1_uc003cck.2_Intron|NKIRAS1_uc003ccj.2_5'Flank|NKIRAS1_uc003ccl.2_5'Flank|NKIRAS1_uc003ccm.2_5'Flank|RPL15_uc011awi.1_Silent_p.G70G|RPL15_uc011awj.1_Silent_p.G70G|RPL15_uc003cco.2_Silent_p.G70G|RPL15_uc003ccp.2_Silent_p.G70G|RPL15_uc003ccq.2_Silent_p.G70G|RPL15_uc003ccr.2_Silent_p.G70G	NM_002948	NP_002939	P61313	RL15_HUMAN	ribosomal protein L15	70					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			ovary(1)	1						GCCGTGGTGGCCGAAAACGCC	0.468												
CMTM7	112616	broad.mit.edu	37	3	32483485	32483485	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:32483485T>C	uc003cey.1	+	2	549	c.313T>C	c.(313-315)TGT>CGT	p.C105R	CMTM7_uc003cez.1_Missense_Mutation_p.C105R	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing	105	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0						CGTGCTCACCTGTATCAGCTG	0.527												
SCN5A	6331	broad.mit.edu	37	3	38592960	38592960	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:38592960T>C	uc003cio.2	-	28	5097	c.4903A>G	c.(4903-4905)AGA>GGA	p.R1635G	SCN5A_uc003cin.2_Missense_Mutation_p.R1634G|SCN5A_uc003cil.3_Missense_Mutation_p.R1635G|SCN5A_uc010hhi.2_Missense_Mutation_p.R1617G|SCN5A_uc010hhk.2_Missense_Mutation_p.R1602G|SCN5A_uc011ayr.1_Missense_Mutation_p.R1581G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1635	Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGGATCAGTCTGAGGATGCGG	0.597												
ULK4	54986	broad.mit.edu	37	3	41979677	41979677	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:41979677G>A	uc003ckv.3	-	3	352	c.151C>T	c.(151-153)CGT>TGT	p.R51C	ULK4_uc003ckw.2_Missense_Mutation_p.R51C|ULK4_uc003ckx.1_Missense_Mutation_p.R51C	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	51	Protein kinase.						ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTTATTTCACGGGTGAGACGG	0.313												
SNRK	54861	broad.mit.edu	37	3	43345219	43345219	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:43345219G>A	uc003cms.3	+	3	856	c.524G>A	c.(523-525)TGT>TAT	p.C175Y	SNRK_uc003cmt.3_Missense_Mutation_p.C175Y|SNRK_uc010hik.2_Missense_Mutation_p.C175Y|SNRK_uc011azr.1_Intron|SNRK_uc003cmu.2_Missense_Mutation_p.C175Y	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	175	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		ACTACAAGCTGTGGATCTCTT	0.433												
ZNF197	10168	broad.mit.edu	37	3	44673683	44673683	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:44673683C>T	uc003cnm.2	+	4	843	c.637C>T	c.(637-639)CCC>TCC	p.P213S	ZNF197_uc003cnn.2_Missense_Mutation_p.P213S|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Missense_Mutation_p.P213S	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	213					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AACAGCCCAGCCCCAGGTAAG	0.512												
ZNF35	7584	broad.mit.edu	37	3	44700823	44700823	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:44700823G>A	uc003cnq.2	+	4	1189	c.968G>A	c.(967-969)CGG>CAG	p.R323Q	ZNF35_uc003cnr.2_Missense_Mutation_p.R163Q	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	323	C2H2-type 4.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CAACTTGCTCGGCACCAGAAA	0.388												
PLXNB1	5364	broad.mit.edu	37	3	48455369	48455369	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:48455369C>T	uc003csw.2	-	22	4591	c.4321G>A	c.(4321-4323)GTG>ATG	p.V1441M	PLXNB1_uc003cst.2_Translation_Start_Site|PLXNB1_uc003csu.2_Missense_Mutation_p.V1258M|PLXNB1_uc003csx.2_Missense_Mutation_p.V1441M|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1441	Extracellular (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCTGCTCCACGGGGGGCTCG	0.652												
CELSR3	1951	broad.mit.edu	37	3	48694482	48694482	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:48694482C>T	uc003cul.2	-	2	4329	c.4048G>A	c.(4048-4050)GAG>AAG	p.E1350K	CELSR3_uc003cuf.1_Missense_Mutation_p.E1420K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1350	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCAGCTCCTCGGAGCTGAAC	0.687												
IMPDH2	3615	broad.mit.edu	37	3	49063765	49063765	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49063765G>A	uc003cvt.2	-	9	1090	c.998C>T	c.(997-999)ACG>ATG	p.T333M		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	333		Inhibitor.			GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	ACCTTCCTGCGTAATGCAGAT	0.542												
LAMB2	3913	broad.mit.edu	37	3	49166502	49166502	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49166502C>T	uc003cwe.2	-	13	1981	c.1682G>A	c.(1681-1683)CGG>CAG	p.R561Q	LAMB2_uc003cwf.1_Missense_Mutation_p.R561Q	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	561	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGAAGGGCCGGAAGTAGCC	0.622												
DAG1	1605	broad.mit.edu	37	3	49568441	49568441	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49568441C>T	uc003cxc.3	+	3	915	c.497C>T	c.(496-498)TCG>TTG	p.S166L		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	166	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAGCTGCAGTCGGTGAGGACA	0.597												
APEH	327	broad.mit.edu	37	3	49719798	49719798	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49719798A>G	uc003cxf.2	+	18	2021	c.1621A>G	c.(1621-1623)ACG>GCG	p.T541A	APEH_uc010hkw.1_Missense_Mutation_p.T541A	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	541					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGTGGCTCCACGGGCTTTGG	0.597												
MST1	4485	broad.mit.edu	37	3	49723511	49723511	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49723511G>A	uc003cxg.2	-	9	1203	c.1131C>T	c.(1129-1131)GAC>GAT	p.D377D	MST1_uc011bcs.1_Missense_Mutation_p.T416M|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	363					proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCGCACGTCGTCTGTACAAC	0.697												
RBM6	10180	broad.mit.edu	37	3	50095924	50095924	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:50095924G>A	uc003cyc.2	+	10	2192	c.2059G>A	c.(2059-2061)GTC>ATC	p.V687I	RBM6_uc010hlc.1_Missense_Mutation_p.V206I|RBM6_uc003cyd.2_Missense_Mutation_p.V165I|RBM6_uc003cye.2_Missense_Mutation_p.V165I|RBM6_uc011bdi.1_Missense_Mutation_p.V29I|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	687					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TACTGCCAACGTCCGTATCAT	0.507												
SLC38A3	10991	broad.mit.edu	37	3	50252140	50252140	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:50252140T>C	uc003cyn.3	+	4	380	c.239T>C	c.(238-240)ATG>ACG	p.M80T	SLC38A3_uc011bdl.1_Missense_Mutation_p.W80R|SLC38A3_uc011bdm.1_Missense_Mutation_p.M11T	NM_006841	NP_006832	Q99624	S38A3_HUMAN	solute carrier family 38, member 3	80					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AATGCCATCATGGGCAGCGGC	0.552												
GNAI2	2771	broad.mit.edu	37	3	50294216	50294216	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:50294216G>A	uc003cyq.1	+	6	776	c.655G>A	c.(655-657)GTC>ATC	p.V219I	GNAI2_uc003cyo.1_Missense_Mutation_p.V203I|GNAI2_uc003cyp.1_Missense_Mutation_p.V203I|GNAI2_uc010hlg.1_Missense_Mutation_p.V138I|GNAI2_uc011bdn.1_Missense_Mutation_p.V182I|GNAI2_uc003cyr.1_Missense_Mutation_p.V138I	NM_002070	NP_002061	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein),	219					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTTTGAGGGCGTCACAGCCAT	0.552												
IFRD2	7866	broad.mit.edu	37	3	50326272	50326272	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:50326272G>A	uc011bdp.1	-	9	1303	c.1174C>T	c.(1174-1176)CGC>TGC	p.R392C	IFRD2_uc003czb.2_Missense_Mutation_p.R494C	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	392							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGCGCTGGCGCCGACGATCA	0.597												
HYAL1	3373	broad.mit.edu	37	3	50339708	50339708	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:50339708G>A	uc003czp.2	-	2	812	c.680C>T	c.(679-681)GCC>GTC	p.A227V	HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.A45V|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.A227V|HYAL1_uc003czr.2_Missense_Mutation_p.A227V|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.A227V|HYAL1_uc003czt.2_Missense_Mutation_p.A227V	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	227						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GTCATTTTGGGCACGGATGCC	0.602												
GRM2	2912	broad.mit.edu	37	3	51746849	51746849	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:51746849C>T	uc010hlv.2	+	3	1050	c.811C>T	c.(811-813)CGT>TGT	p.R271C	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	271	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCTGTTCACCCGTTCTGAGGA	0.667												
ACY1	95	broad.mit.edu	37	3	52022841	52022841	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:52022841C>T	uc003dcp.2	+	14	1122	c.1061C>T	c.(1060-1062)GCG>GTG	p.A354V	ACY1_uc011bea.1_Missense_Mutation_p.A444V|ACY1_uc003dcq.2_Missense_Mutation_p.A354V	NM_000666	NP_000657	Q03154	ACY1_HUMAN	aminoacylase 1	354					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)	TATATCCGCGCGGTGAGCCAC	0.537												
PBRM1	55193	broad.mit.edu	37	3	52651369	52651369	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:52651369C>T	uc003des.2	-	14	1739	c.1727G>A	c.(1726-1728)CGC>CAC	p.R576H	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R576H|PBRM1_uc003der.2_Missense_Mutation_p.R544H|PBRM1_uc003det.2_Missense_Mutation_p.R591H|PBRM1_uc003deu.2_Missense_Mutation_p.R591H|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R576H|PBRM1_uc010hmk.1_Missense_Mutation_p.R576H|PBRM1_uc003dey.2_Missense_Mutation_p.R576H|PBRM1_uc003dez.1_Missense_Mutation_p.R576H|PBRM1_uc003dfb.1_Missense_Mutation_p.R489H|PBRM1_uc003dfc.2_5'Flank	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	576	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTGTCATTGCGGATGTTATG	0.408			Mis|N|F|S|D|O		clear cell renal carcinoma|breast							
NEK4	6787	broad.mit.edu	37	3	52799920	52799920	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:52799920G>A	uc003dfq.3	-	4	838	c.649C>T	c.(649-651)CGG>TGG	p.R217W	NEK4_uc011bej.1_Missense_Mutation_p.R128W|NEK4_uc003dfr.2_Missense_Mutation_p.R217W	NM_003157	NP_003148	P51957	NEK4_HUMAN	NIMA-related kinase 4	217	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TCAATAATCCGATAAACTAAA	0.328												
TKT	7086	broad.mit.edu	37	3	53263294	53263294	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:53263294A>G	uc003dgo.2	-	9	1374	c.1264_splice	c.e9+1	p.G422_splice	TKT_uc003dgp.2_Splice_Site_p.G54_splice|TKT_uc011beo.1_Splice_Site_p.G375_splice|TKT_uc003dgq.2_Splice_Site_p.G422_splice|TKT_uc011beq.1_Splice_Site_p.G430_splice|TKT_uc011ber.1_Splice_Site_p.G224_splice|TKT_uc011bep.1_Splice_Site_p.G339_splice	NM_001135055	NP_001128527	P29401	TKT_HUMAN	transketolase isoform 1						energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			ovary(2)	2		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGCTAAACTCACCGATGGAAA	0.597												
FLNB	2317	broad.mit.edu	37	3	58140568	58140568	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:58140568G>A	uc003djj.2	+	40	6850	c.6685G>A	c.(6685-6687)GCT>ACT	p.A2229T	FLNB_uc010hne.2_Missense_Mutation_p.A2260T|FLNB_uc003djk.2_Missense_Mutation_p.A2218T|FLNB_uc010hnf.2_Missense_Mutation_p.A2205T|FLNB_uc003djl.2_Missense_Mutation_p.A2049T|FLNB_uc003djm.2_Missense_Mutation_p.A2036T	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2229	Interaction with INPPL1.|Filamin 21.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTCTCCATCGCTGTTGAGGG	0.537												
FLNB	2317	broad.mit.edu	37	3	58141758	58141758	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:58141758G>A	uc003djj.2	+	41	7009	c.6844G>A	c.(6844-6846)GCA>ACA	p.A2282T	FLNB_uc010hne.2_Missense_Mutation_p.A2313T|FLNB_uc003djk.2_Missense_Mutation_p.A2271T|FLNB_uc010hnf.2_Missense_Mutation_p.A2258T|FLNB_uc003djl.2_Missense_Mutation_p.A2102T|FLNB_uc003djm.2_Missense_Mutation_p.A2089T	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2282	Filamin 22.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCGGTCATCGCACCCTCCGA	0.572												
FEZF2	55079	broad.mit.edu	37	3	62358229	62358229	+	Silent	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:62358229T>G	uc003dlh.2	-	1	522	c.315A>C	c.(313-315)GGA>GGC	p.G105G	FEZF2_uc003dli.2_Silent_p.G105G	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	105	Gly-rich.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		cgccgccgcctccgccgccgc	0.502												
C3orf64	285203	broad.mit.edu	37	3	69026835	69026835	+	Silent	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:69026835A>T	uc003dnl.2	-	18	1923	c.1518T>A	c.(1516-1518)CTT>CTA	p.L506L	C3orf64_uc003dnj.2_Silent_p.L185L|C3orf64_uc003dnk.2_Silent_p.L422L|C3orf64_uc011bfw.1_RNA	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	AER61 glycosyltransferase	506						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)	1		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		CTGCAGCCTGAAGGACAAGAT	0.428												
MITF	4286	broad.mit.edu	37	3	70008549	70008549	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:70008549G>A	uc003dnz.2	+	9	1255	c.1139G>A	c.(1138-1140)CGG>CAG	p.R380Q	MITF_uc011bgb.1_Missense_Mutation_p.R328Q|MITF_uc003doa.2_Missense_Mutation_p.R379Q|MITF_uc003dob.2_Missense_Mutation_p.R364Q|MITF_uc003dod.2_Missense_Mutation_p.R355Q|MITF_uc003doe.2_Missense_Mutation_p.R273Q|MITF_uc003dof.2_Missense_Mutation_p.R279Q	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	386	Leucine-zipper.				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)		CACGCCAACCGGCATTTGTTG	0.438			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome					
RYBP	23429	broad.mit.edu	37	3	72427783	72427783	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:72427783C>T	uc003dpe.2	-	4	527	c.410G>A	c.(409-411)CGG>CAG	p.R137Q		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	147	Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding				0		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GTTTTTCAGCCGGGGCCTAGA	0.473												
SHQ1	55164	broad.mit.edu	37	3	72881584	72881584	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:72881584C>T	uc003dpf.2	-	5	642	c.535G>A	c.(535-537)GCA>ACA	p.A179T	SHQ1_uc010hod.2_Missense_Mutation_p.A90T	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	179					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CGTTCAGCTGCAGGGGTGAAA	0.398												
EPHA6	285220	broad.mit.edu	37	3	97467487	97467487	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:97467487G>A	uc010how.1	+	18	3378	c.3335G>A	c.(3334-3336)AGC>AAC	p.S1112N		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	1017	SAM.|Cytoplasmic (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						ATAGTCAGCAGCATACAGACT	0.333												
CRYBG3	131544	broad.mit.edu	37	3	97614862	97614862	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:97614862A>T	uc003drx.2	+	9	1854	c.1790A>T	c.(1789-1791)GAC>GTC	p.D597V		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						GAAGAAGGAGACTTTGAAGAC	0.403												
GABRR3	200959	broad.mit.edu	37	3	97744439	97744439	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:97744439G>A	uc011bgr.1	-	2	210	c.210C>T	c.(208-210)AAC>AAT	p.N70N		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	70	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0						TTGCGAAATCGTTGTCCTCTA	0.403												
IMPG2	50939	broad.mit.edu	37	3	100962449	100962449	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:100962449T>C	uc003duq.1	-	13	2929	c.2726A>G	c.(2725-2727)AAC>AGC	p.N909S	IMPG2_uc011bhe.1_Missense_Mutation_p.N772S	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	909	Extracellular (Potential).|SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AAACATCATGTTAGTCACTCG	0.418												
DPPA2	151871	broad.mit.edu	37	3	109028155	109028155	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:109028155C>T	uc003dxo.2	-	4	451	c.204G>A	c.(202-204)GAG>GAA	p.E68E		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	68						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3						CTGTAAATTGCTCATTTGTTT	0.373												
ZBTB20	26137	broad.mit.edu	37	3	114070632	114070632	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:114070632C>T	uc003ebi.2	-	4	473	c.293G>A	c.(292-294)CGC>CAC	p.R98H	ZBTB20_uc003ebj.2_Missense_Mutation_p.R25H|ZBTB20_uc010hqp.2_Missense_Mutation_p.R25H|ZBTB20_uc003ebk.2_Missense_Mutation_p.R25H|ZBTB20_uc003ebl.2_Missense_Mutation_p.R25H|ZBTB20_uc003ebm.2_Missense_Mutation_p.R25H|ZBTB20_uc003ebn.2_Missense_Mutation_p.R25H|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	98					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)		GCCACGGTTGCGCTGCTCGTT	0.612												
TMEM39A	55254	broad.mit.edu	37	3	119153647	119153647	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:119153647C>T	uc003eck.1	-	8	1558	c.1195G>A	c.(1195-1197)GTG>ATG	p.V399M	TMEM39A_uc003ecl.1_Missense_Mutation_p.V247M	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	399						integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		GGCACTGCCACGTTGTAAGGC	0.453												
GPR156	165829	broad.mit.edu	37	3	119899986	119899986	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:119899986T>C	uc011bjf.1	-	7	919	c.919A>G	c.(919-921)ATC>GTC	p.I307V	GPR156_uc011bjg.1_Missense_Mutation_p.I303V	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	307	Helical; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		GGAATGAAGATGAAGCAGTTG	0.423												
ADCY5	111	broad.mit.edu	37	3	123046536	123046536	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:123046536C>T	uc003egh.1	-	7	1876	c.1876G>A	c.(1876-1878)GGC>AGC	p.G626S	ADCY5_uc003egg.1_Missense_Mutation_p.G259S|ADCY5_uc003egi.1_Missense_Mutation_p.G185S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	626	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		TTGCGCTCGCCCCCACAGCCT	0.637												
UROC1	131669	broad.mit.edu	37	3	126224606	126224606	+	Missense_Mutation	SNP	C	C	T	rs140432607	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:126224606C>T	uc003eiz.1	-	8	783	c.751G>A	c.(751-753)GGA>AGA	p.G251R	UROC1_uc010hsi.1_Missense_Mutation_p.G251R	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	251					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		CCACTCATTCCGCCGAGCCCA	0.542												
PLXNA1	5361	broad.mit.edu	37	3	126733160	126733160	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:126733160C>T	uc003ejg.2	+	11	2481	c.2477C>T	c.(2476-2478)GCA>GTA	p.A826V		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	849	Extracellular (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)		GACACACCTGCATCGTGGATG	0.711												
PLXNA1	5361	broad.mit.edu	37	3	126749123	126749123	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:126749123C>A	uc003ejg.2	+	28	5034	c.5030C>A	c.(5029-5031)ACC>AAC	p.T1677N	PLXNA1_uc003ejh.2_Missense_Mutation_p.T345N	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1700	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)		CTGTTTGAGACCATCTTCAGC	0.632												
RUVBL1	8607	broad.mit.edu	37	3	127819504	127819504	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:127819504G>A	uc003ekh.2	-	6	791	c.687C>T	c.(685-687)CAC>CAT	p.H229H	RUVBL1_uc003eke.2_5'UTR|RUVBL1_uc003ekf.2_Silent_p.H169H|RUVBL1_uc010hss.2_Silent_p.H229H	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	229					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		CTTTCTTTTTGTGCACATCCC	0.498												
COPG	22820	broad.mit.edu	37	3	128987780	128987780	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:128987780A>G	uc003els.2	+	18	1880	c.1780A>G	c.(1780-1782)ACC>GCC	p.T594A	COPG_uc010htb.2_Missense_Mutation_p.T500A	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	594					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						TGCAGAAAGTACCCCCATCAC	0.532												
PLXND1	23129	broad.mit.edu	37	3	129275467	129275467	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:129275467C>T	uc003emx.2	-	35	5754	c.5654G>A	c.(5653-5655)CGG>CAG	p.R1885Q	PLXND1_uc003emw.2_Missense_Mutation_p.R41Q|PLXND1_uc011blb.1_Missense_Mutation_p.R554Q	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1885	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CACCTGCGGCCGATACCTCTT	0.552												
NPHP3	27031	broad.mit.edu	37	3	132419201	132419201	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:132419201T>C	uc003epe.1	-	11	1797	c.1720A>G	c.(1720-1722)ATT>GTT	p.I574V	NPHP3_uc003epd.1_5'UTR|NPHP3_uc003epf.1_Missense_Mutation_p.I329V	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	574					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						CGTTTAATAATCAAGGAGGAC	0.373												
C3orf36	80111	broad.mit.edu	37	3	133647420	133647420	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:133647420C>T	uc003epz.1	-	1	1237	c.228G>A	c.(226-228)GCG>GCA	p.A76A		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	hypothetical protein LOC80111	76										ovary(1)	1						CGGGGTGTGGCGCGGCCCACT	0.667												
TXNDC6	347736	broad.mit.edu	37	3	138023786	138023786	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:138023786G>A	uc003esg.2	-	9	748	c.720C>T	c.(718-720)GAC>GAT	p.D240D	TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Silent_p.D155D|TXNDC6_uc003ese.1_Silent_p.D179D	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	thioredoxin domain containing 6	240	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			breast(3)|ovary(1)|pancreas(1)	5						TAGTGACCACGTCCTCGAAGC	0.592												
ZBTB38	253461	broad.mit.edu	37	3	141164238	141164238	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:141164238G>A	uc003etw.2	+	8	3990	c.3008G>A	c.(3007-3009)CGA>CAA	p.R1003Q	ZBTB38_uc010hun.2_Missense_Mutation_p.R1000Q|ZBTB38_uc010huo.2_Missense_Mutation_p.R1003Q|ZBTB38_uc003ety.2_Missense_Mutation_p.R1003Q|ZBTB38_uc010hup.2_Missense_Mutation_p.R1004Q	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1003					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AGGCCCCACCGACATCTTACT	0.537												
SLC9A9	285195	broad.mit.edu	37	3	143185877	143185877	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:143185877A>G	uc003evn.2	-	12	1651	c.1469_splice	c.e12+1	p.R490_splice		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen						regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						GGTGTCACTCACCTGATCTGA	0.468												
ZIC1	7545	broad.mit.edu	37	3	147130455	147130455	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:147130455G>A	uc003ewe.2	+	2	1852	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	378	C2H2-type 5.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGTTCGCTGCGCAAACACATG	0.602												
MED12L	116931	broad.mit.edu	37	3	151105704	151105704	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:151105704A>G	uc003eyp.2	+	35	5128	c.5090A>G	c.(5089-5091)GAC>GGC	p.D1697G	MED12L_uc011bnz.1_Missense_Mutation_p.D1557G|MED12L_uc003eyy.1_Missense_Mutation_p.D860G	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1697					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCCGAGTGGACCGAAGAGTG	0.582												
MECOM	2122	broad.mit.edu	37	3	168840366	168840366	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:168840366A>G	uc003ffi.3	-	5	683	c.414_splice	c.e5+1	p.K138_splice	MECOM_uc010hwk.1_Splice_Site_p.K161_splice|MECOM_uc003ffj.3_Splice_Site_p.K202_splice|MECOM_uc011bpi.1_Splice_Site_p.K138_splice|MECOM_uc003ffn.3_Splice_Site_p.K138_splice|MECOM_uc003ffk.2_Splice_Site_p.K138_splice|MECOM_uc003ffl.2_Splice_Site_p.K298_splice|MECOM_uc011bpj.1_Splice_Site_p.K326_splice|MECOM_uc011bpk.1_Splice_Site_p.K128_splice|MECOM_uc010hwn.2_Splice_Site_p.K326_splice	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b						apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						AATTCACTGTACCTTGGCACA	0.428												
ARPM1	84517	broad.mit.edu	37	3	169485249	169485249	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:169485249G>T	uc003ffs.1	-	2	1465	c.1090C>A	c.(1090-1092)CCC>ACC	p.P364T	TERC_uc003ffr.1_5'Flank	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	actin related protein M1	364						cytoplasm|cytoskeleton					0	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACTATGTTGGGTCCAACTTCT	0.368												
GHSR	2693	broad.mit.edu	37	3	172165588	172165588	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:172165588G>A	uc003fib.1	-	1	616	c.616C>T	c.(616-618)CGC>TGC	p.R206C	GHSR_uc011bpv.1_Missense_Mutation_p.R206C	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	206	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)			AGTCCAGAGCGCACCGCAAAC	0.617												
NAALADL2	254827	broad.mit.edu	37	3	175473035	175473035	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:175473035T>C	uc003fit.2	+	13	2105	c.2018T>C	c.(2017-2019)TTA>TCA	p.L673S		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	673	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CATCAACTGTTAGCCATGGCG	0.488												
TBL1XR1	79718	broad.mit.edu	37	3	176768322	176768322	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:176768322A>G	uc003fiw.3	-	6	764	c.504T>C	c.(502-504)CAT>CAC	p.H168H	TBL1XR1_uc003fix.3_Silent_p.H168H|TBL1XR1_uc011bpz.1_Intron	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	168	WD 1.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CTTCAGATTCATGGCCCCGCA	0.393												
SENP2	59343	broad.mit.edu	37	3	185318608	185318608	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:185318608C>A	uc003fpn.2	+	5	585	c.414C>A	c.(412-414)ACC>ACA	p.T138T	SENP2_uc011brv.1_Silent_p.T128T|SENP2_uc011brw.1_5'UTR	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific protease 2	138					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity				0	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGACAGTTACCCGAGATCAGC	0.363												
LPP	4026	broad.mit.edu	37	3	188477984	188477984	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:188477984T>C	uc003frs.1	+	8	1570	c.1324T>C	c.(1324-1326)TTT>CTT	p.F442L	LPP_uc011bsg.1_Missense_Mutation_p.F295L|LPP_uc011bsi.1_Missense_Mutation_p.F442L|LPP_uc011bsj.1_Missense_Mutation_p.F279L	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	442	LIM zinc-binding 1.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CGTGGATTGTTTTACCTGCAT	0.493			T	HMGA2|MLL|C12orf9	lipoma|leukemia							
LEPREL1	55214	broad.mit.edu	37	3	189675769	189675769	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:189675769T>C	uc011bsk.1	-	15	2447	c.2059A>G	c.(2059-2061)ATT>GTT	p.I687V	LEPREL1_uc003fsg.2_Missense_Mutation_p.I506V	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	687					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGAATTGCAATCACTTCATCA	0.358											OREG0015985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CPN2	1370	broad.mit.edu	37	3	194062683	194062683	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:194062683C>T	uc003fts.2	-	2	839	c.749G>A	c.(748-750)CGC>CAC	p.R250H		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	250	LRR 7.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GATGGCGTTGCGTTGCAGCCA	0.607												
TNK2	10188	broad.mit.edu	37	3	195594872	195594872	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:195594872C>T	uc003fvu.1	-	12	2795	c.2252G>A	c.(2251-2253)CGC>CAC	p.R751H	TNK2_uc003fvq.1_Missense_Mutation_p.R158H|TNK2_uc003fvr.1_Missense_Mutation_p.R276H|TNK2_uc003fvs.1_Missense_Mutation_p.R783H|TNK2_uc003fvt.1_Missense_Mutation_p.R829H|TNK2_uc010hzw.1_RNA	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	751	Pro-rich.|EBD domain (By similarity).			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GACGTGTGGGCGCGTGGGCCG	0.766												
PCYT1A	5130	broad.mit.edu	37	3	195975168	195975168	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:195975168C>T	uc003fwg.2	-	5	417	c.244G>A	c.(244-246)GAT>AAT	p.D82N	PCYT1A_uc003fwh.2_Missense_Mutation_p.D82N	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	82	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AATATTCCATCGGCATAAACT	0.343												
PCYT1A	5130	broad.mit.edu	37	3	195984673	195984673	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:195984673C>T	uc003fwg.2	-	4	376	c.203G>A	c.(202-204)AGC>AAC	p.S68N	PCYT1A_uc003fwh.2_Missense_Mutation_p.S68N	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	68						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AGTTCCTCTGCTGGCTTCTTC	0.368												
LRRC33	375387	broad.mit.edu	37	3	196388469	196388469	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:196388469A>G	uc003fwv.2	+	3	2059	c.1955A>G	c.(1954-1956)TAC>TGC	p.Y652C		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	652	Helical; (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGCCTGCTCTACCTCGTGCTC	0.622												
CTBP1	1487	broad.mit.edu	37	4	1208166	1208166	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:1208166G>A	uc003gcv.1	-	6	1023	c.858C>T	c.(856-858)GGC>GGT	p.G286G	uc003gcs.1_Intron|CTBP1_uc003gct.1_Silent_p.G267G|CTBP1_uc003gcu.1_Silent_p.G275G|CTBP1_uc003gcw.2_5'Flank	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	286					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CCAGGGCCGCGCCGCGGATCC	0.687												
CRIPAK	285464	broad.mit.edu	37	4	1388396	1388396	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:1388396C>A	uc003gdf.2	+	1	3057	c.97C>A	c.(97-99)CCG>ACG	p.P33T		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	33					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGTGGAGTGCCCGCCTGCTCA	0.637												
FGFR3	2261	broad.mit.edu	37	4	1801006	1801006	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:1801006G>A	uc003gdr.3	+	3	391	c.135G>A	c.(133-135)CAG>CAA	p.Q45Q	FGFR3_uc003gdu.2_Silent_p.Q45Q|FGFR3_uc003gds.3_Silent_p.Q45Q|FGFR3_uc003gdq.3_Silent_p.Q45Q|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	45	Ig-like C2-type 1.|Extracellular (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	AGCCCGGCCAGCAGGAGCAGT	0.667		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome			
POLN	353497	broad.mit.edu	37	4	2209759	2209759	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:2209759T>C	uc003ger.2	-	3	669	c.669A>G	c.(667-669)ATA>ATG	p.I223M	POLN_uc010ich.1_Translation_Start_Site|POLN_uc011bvi.1_Missense_Mutation_p.I223M	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	223					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ACATCACAGTTATCACCAGGG	0.418								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
TBC1D14	57533	broad.mit.edu	37	4	7000928	7000928	+	Missense_Mutation	SNP	A	A	G	rs142740335		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:7000928A>G	uc011bwg.1	+	6	1241	c.1162A>G	c.(1162-1164)ATG>GTG	p.M388V	TBC1D14_uc003gjs.3_Missense_Mutation_p.M388V|TBC1D14_uc010idh.2_Missense_Mutation_p.M108V|TBC1D14_uc011bwh.1_Missense_Mutation_p.M1V|TBC1D14_uc003gju.3_5'Flank	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	388						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						CTGGGAAACAATGTAAGATGT	0.498												
CPZ	8532	broad.mit.edu	37	4	8603004	8603004	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:8603004G>A	uc003glm.2	+	3	402	c.276G>A	c.(274-276)CAG>CAA	p.Q92Q	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Translation_Start_Site|CPZ_uc003glo.2_Silent_p.Q81Q|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	92	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3						TGGAAGGCCAGTGCAACCCGG	0.682												
HS3ST1	9957	broad.mit.edu	37	4	11400811	11400811	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:11400811C>T	uc003gmq.2	-	2	1142	c.819G>A	c.(817-819)GCG>GCA	p.A273A		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	273	PAPS.					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			skin(1)	1						CTTGGGGGTGCGCCCGGCCTT	0.488												
FGFBP1	9982	broad.mit.edu	37	4	15937783	15937783	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:15937783T>C	uc003gom.2	-	2	591	c.473A>G	c.(472-474)AAC>AGC	p.N158S		NM_005130	NP_005121	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	158					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding				0						GGGCTTTGTGTTCCCAAATAG	0.498												
LCORL	254251	broad.mit.edu	37	4	17847390	17847390	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:17847390G>A	uc003gpq.2	-	7	922	c.911C>T	c.(910-912)ACG>ATG	p.T304M	LCORL_uc011bxk.1_3'UTR	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						TGTACAGCTCGTTAGAGATGC	0.388												
SEL1L3	23231	broad.mit.edu	37	4	25849128	25849128	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:25849128C>T	uc003gru.3	-	2	673	c.521G>A	c.(520-522)CGC>CAC	p.R174H		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	174						integral to membrane	binding				0						AATCCAGGCGCGTACTATCAC	0.413												
SEL1L3	23231	broad.mit.edu	37	4	25849271	25849271	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:25849271G>A	uc003gru.3	-	2	530	c.378C>T	c.(376-378)CCC>CCT	p.P126P		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	126						integral to membrane	binding				0						TTTTGTACACGGGAATGCTAC	0.393												
TBC1D1	23216	broad.mit.edu	37	4	38016513	38016513	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:38016513C>T	uc003gtb.2	+	3	1144	c.801C>T	c.(799-801)AGC>AGT	p.S267S	TBC1D1_uc011byd.1_Silent_p.S267S|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Silent_p.S138S	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	267	PID.					nucleus	Rab GTPase activator activity			ovary(1)	1						TCGAGGAGAGCGACATTGAGA	0.552												
LIAS	11019	broad.mit.edu	37	4	39471655	39471655	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:39471655C>T	uc003guf.2	+	8	827	c.754C>T	c.(754-756)CGG>TGG	p.R252W	LIAS_uc003gug.2_Missense_Mutation_p.R252W|LIAS_uc003guh.2_Missense_Mutation_p.R209W	NM_006859	NP_006850	O43766	LIAS_HUMAN	lipoic acid synthetase isoform 1 precursor	252					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding				0					Lipoic Acid(DB00166)	TCGTGATCCTCGGGCCAATTT	0.418												
DCAF4L1	285429	broad.mit.edu	37	4	41984202	41984202	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:41984202C>T	uc003gwk.2	+	1	490	c.393C>T	c.(391-393)TGC>TGT	p.C131C		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	WD repeat domain 21B	131										skin(1)	1						AGTCCCTGTGCTGGGCCTCGC	0.572												
GNPDA2	132789	broad.mit.edu	37	4	44713002	44713002	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:44713002C>T	uc003gwy.2	-	5	719	c.562G>A	c.(562-564)GTT>ATT	p.V188I	GNPDA2_uc010iga.2_Missense_Mutation_p.V154I|GNPDA2_uc011bzb.1_Missense_Mutation_p.V118I|GNPDA2_uc003gwz.1_Missense_Mutation_p.V188I	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	188					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			ovary(1)	1						CCCACACCAACAGTTAGAGCC	0.353												
ATP10D	57205	broad.mit.edu	37	4	47537590	47537590	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:47537590A>G	uc003gxk.1	+	6	1005	c.841A>G	c.(841-843)ATT>GTT	p.I281V	ATP10D_uc003gxl.1_5'Flank|ATP10D_uc003gxj.3_Missense_Mutation_p.I281V	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	281	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						AGGATGCACCATTAGAAACAC	0.363												
CORIN	10699	broad.mit.edu	37	4	47645224	47645224	+	Silent	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:47645224T>G	uc003gxm.2	-	15	2100	c.2007A>C	c.(2005-2007)TCA>TCC	p.S669S	CORIN_uc011bzf.1_Silent_p.S530S|CORIN_uc011bzg.1_Silent_p.S602S|CORIN_uc011bzh.1_Silent_p.S632S	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	669	Extracellular (Potential).|LDL-receptor class A 7.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						ACAGGTCACGTGACACACACG	0.453												
SLC10A4	201780	broad.mit.edu	37	4	48490652	48490652	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:48490652G>A	uc003gyc.2	+	3	1229	c.1010G>A	c.(1009-1011)GGT>GAT	p.G337D	ZAR1_uc003gyd.2_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	337	Cytoplasmic (Potential).					integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)	1						CTGGAAACAGGTAGTCAGAAT	0.448												
KDR	3791	broad.mit.edu	37	4	55962504	55962504	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:55962504C>T	uc003has.2	-	19	2922	c.2620G>A	c.(2620-2622)GCA>ACA	p.A874T	KDR_uc003hat.1_Missense_Mutation_p.A874T	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	874	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTGTGTGTTGCTCCTTCTACA	0.448			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)		
CLOCK	9575	broad.mit.edu	37	4	56325419	56325419	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:56325419T>C	uc003haz.1	-	11	1495	c.569A>G	c.(568-570)CAG>CGG	p.Q190R	CLOCK_uc003hba.1_Missense_Mutation_p.Q190R	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	190					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GAATTCTAACTGATTTTTTGC	0.279												
REST	5978	broad.mit.edu	37	4	57797474	57797474	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:57797474G>A	uc003hch.2	+	4	2797	c.2450G>A	c.(2449-2451)CGA>CAA	p.R817Q	REST_uc003hci.2_Missense_Mutation_p.R817Q|REST_uc010ihf.2_Missense_Mutation_p.R491Q	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	817					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					CCTCCTCTCCGAAAAGATAAA	0.507												
LPHN3	23284	broad.mit.edu	37	4	62758468	62758468	+	Silent	SNP	G	G	A	rs145773574	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:62758468G>A	uc010ihh.2	+	7	1544	c.1371G>A	c.(1369-1371)CCG>CCA	p.P457P	LPHN3_uc003hcq.3_Silent_p.P457P|LPHN3_uc003hcs.1_Silent_p.P286P	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	457	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GTACCACCCCGTCAGTGTCAG	0.522												
STAP1	26228	broad.mit.edu	37	4	68472069	68472069	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:68472069T>C	uc003hde.3	+	9	964	c.882T>C	c.(880-882)ATT>ATC	p.I294I	STAP1_uc003hdf.2_Silent_p.I294I	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	294					cellular membrane fusion|intracellular protein transport	cytoplasm					0						ATCCACACATTGCATGAAATA	0.318												
UBA6	55236	broad.mit.edu	37	4	68536260	68536260	+	Silent	SNP	G	G	A	rs140398587	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:68536260G>A	uc003hdg.3	-	8	649	c.597C>T	c.(595-597)TTC>TTT	p.F199F	UBA6_uc003hdi.2_Silent_p.F199F|UBA6_uc003hdj.2_Silent_p.F199F	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	199					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0						ATTCATCACCGAAATCACAAA	0.269												
UGT2A3	79799	broad.mit.edu	37	4	69817370	69817370	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:69817370G>A	uc003hef.2	-	1	140	c.109C>T	c.(109-111)CTT>TTT	p.L37F	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	37	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						TTGACATTAAGCCAATGGCTC	0.473												
PPBP	5473	broad.mit.edu	37	4	74853683	74853683	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:74853683C>T	uc003hhj.2	-	1	218	c.138G>A	c.(136-138)GCG>GCA	p.A46A		NM_002704	NP_002695	P02775	CXCL7_HUMAN	pro-platelet basic protein precursor	46					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			CTTTGCCTTTCGCCAAGTTTC	0.537												
MTHFD2L	441024	broad.mit.edu	37	4	75147154	75147154	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:75147154T>C	uc011cbk.1	+	7	845	c.818T>C	c.(817-819)TTG>TCG	p.L273S	MTHFD2L_uc003hhu.2_RNA|uc003hhv.1_Intron	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase 2-like	215					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2			all cancers(17;0.0101)|Lung(101;0.196)			ATTCCAAAGTTGATTACGTCT	0.338												
USO1	8615	broad.mit.edu	37	4	76725285	76725285	+	Splice_Site	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:76725285A>T	uc003hiu.2	+	17	2162	c.1987_splice	c.e17-2	p.D663_splice	USO1_uc003hiv.2_Splice_Site_p.D505_splice|USO1_uc003hiw.2_Splice_Site_p.D498_splice	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein						intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTGTTTCACAGGATCTCCAA	0.373												
PPEF2	5470	broad.mit.edu	37	4	76787404	76787404	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:76787404C>T	uc003hix.2	-	15	2215	c.1858G>A	c.(1858-1860)GAC>AAC	p.D620N	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_3'UTR	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	620					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)			AGCATGTTGTCTGCTGAGCTG	0.537												
PPEF2	5470	broad.mit.edu	37	4	76804135	76804135	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:76804135C>T	uc003hix.2	-	10	1234	c.877G>A	c.(877-879)GGT>AGT	p.G293S	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.G293S	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	293	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GACACCCCACCATGAAGAATT	0.413												
NAAA	27163	broad.mit.edu	37	4	76836136	76836136	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:76836136A>G	uc003hjb.2	-	10	1065	c.1001T>C	c.(1000-1002)TTC>TCC	p.F334S	NAAA_uc003hja.2_Intron	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	334					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1						ATAAATTGTGAAGCTGAAAAT	0.413												
FRAS1	80144	broad.mit.edu	37	4	79353563	79353563	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:79353563T>C	uc003hlb.2	+	38	5462	c.5022T>C	c.(5020-5022)CAT>CAC	p.H1674H	FRAS1_uc003hkw.2_Silent_p.H1674H|FRAS1_uc010ijj.1_Silent_p.H94H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1673	CSPG 5.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						AGTATATACATGATGGTTCCT	0.448												
PRDM8	56978	broad.mit.edu	37	4	81124482	81124482	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:81124482C>T	uc010ijo.2	+	8	2705	c.1866C>T	c.(1864-1866)CCC>CCT	p.P622P	PRDM8_uc003hmb.3_Silent_p.P622P|PRDM8_uc003hmc.3_Silent_p.P622P	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	622					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TGTGTCTGCCCGCGCAGAACT	0.363												
HPSE	10855	broad.mit.edu	37	4	84243432	84243432	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:84243432C>T	uc003hoj.3	-	2	412	c.313G>A	c.(313-315)GAT>AAT	p.D105N	HPSE_uc010ika.2_Missense_Mutation_p.D105N|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_5'UTR|HPSE_uc011cct.1_Missense_Mutation_p.D105N|HPSE_uc003hok.3_Missense_Mutation_p.D105N	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	105					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TTCTTGGGATCGAAAATTAGG	0.418												
AFF1	4299	broad.mit.edu	37	4	88035747	88035747	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:88035747G>A	uc003hqj.3	+	11	2148	c.1741G>A	c.(1741-1743)GGA>AGA	p.G581R	AFF1_uc011ccz.1_Missense_Mutation_p.G588R|AFF1_uc003hqk.3_Missense_Mutation_p.G581R|AFF1_uc011cda.1_Missense_Mutation_p.G219R	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	581						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCCCACCCCGGAAAGAGGAG	0.602												
HERC5	51191	broad.mit.edu	37	4	89384739	89384739	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:89384739G>A	uc003hrt.2	+	5	898	c.745G>A	c.(745-747)GCT>ACT	p.A249T		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	249	RCC1 3.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGAATTTGTCGCTTGTGGTGG	0.408												
NHEDC2	133308	broad.mit.edu	37	4	103947672	103947672	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:103947672A>G	uc003hwx.3	-	12	2341	c.1469T>C	c.(1468-1470)GTG>GCG	p.V490A	NHEDC2_uc010iln.1_Intron|NHEDC2_uc003hwy.2_Missense_Mutation_p.V490A|NHEDC2_uc011cew.1_Missense_Mutation_p.V433A|NHEDC2_uc011cex.1_Silent_p.C387C	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Na+/H+ exchanger domain containing 2	490					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				0				OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)		CACTGTCAACACATCCATTCC	0.428												
CENPE	1062	broad.mit.edu	37	4	104066443	104066443	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:104066443T>C	uc003hxb.1	-	32	4711	c.4621A>G	c.(4621-4623)AGT>GGT	p.S1541G	CENPE_uc003hxc.1_Missense_Mutation_p.S1516G	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1541	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGAACCTCACTAATTTGTTTT	0.299												
ANK2	287	broad.mit.edu	37	4	114158319	114158319	+	Silent	SNP	A	A	G	rs148143699		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:114158319A>G	uc003ibe.3	+	6	760	c.660A>G	c.(658-660)GTA>GTG	p.V220V	ANK2_uc003ibd.3_Silent_p.V199V|ANK2_uc003ibf.3_Silent_p.V220V|ANK2_uc003ibc.2_Silent_p.V196V|ANK2_uc011cgb.1_Silent_p.V235V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	220	ANK 6.			V -> I (in Ref. 4; CAD97827).	axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGCTGACGTACAATCCAAGG	0.483												
ANK2	287	broad.mit.edu	37	4	114290831	114290831	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:114290831A>G	uc003ibe.3	+	43	11580	c.11480A>G	c.(11479-11481)CAA>CGA	p.Q3827R	ANK2_uc003ibd.3_Missense_Mutation_p.Q1733R|ANK2_uc003ibf.3_Missense_Mutation_p.Q1742R|ANK2_uc011cgc.1_Missense_Mutation_p.Q918R|ANK2_uc003ibg.3_Missense_Mutation_p.Q726R|ANK2_uc003ibh.3_Missense_Mutation_p.Q416R|ANK2_uc011cgd.1_Missense_Mutation_p.Q1129R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3794					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCATCATACAAGAACCCGAA	0.577												
PDE5A	8654	broad.mit.edu	37	4	120528266	120528266	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:120528266A>G	uc003idh.2	-	2	494	c.339T>C	c.(337-339)ATT>ATC	p.I113I	PDE5A_uc003idf.2_Silent_p.I71I|PDE5A_uc003idg.2_Silent_p.I61I	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	113					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	CCTTGACAACAATGGGTCTAA	0.502												
TNIP3	79931	broad.mit.edu	37	4	122078294	122078294	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:122078294G>A	uc010ing.2	-	4	514	c.318C>T	c.(316-318)GAC>GAT	p.D106D	TNIP3_uc010inh.2_Silent_p.D106D|TNIP3_uc011cgj.1_Silent_p.D164D|TNIP3_uc010ini.2_Silent_p.D106D	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	106	Potential.									ovary(1)	1						GCTGCCTGTCGTCCTCTCTCT	0.647												
KIAA1109	84162	broad.mit.edu	37	4	123117917	123117917	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:123117917A>G	uc003ieh.2	+	10	1225	c.1180A>G	c.(1180-1182)ACA>GCA	p.T394A	KIAA1109_uc003iei.1_Missense_Mutation_p.T148A|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	394					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TGCAGATGCTACAATTGATTT	0.284												
NUDT6	11162	broad.mit.edu	37	4	123814062	123814062	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:123814062G>A	uc003iew.2	-	5	904	c.872C>T	c.(871-873)GCA>GTA	p.A291V	FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Missense_Mutation_p.A122V	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	291						mitochondrion|nucleus	growth factor activity|hydrolase activity				0						TGTGTAAACTGCTGGAAGTTC	0.373												
FAT4	79633	broad.mit.edu	37	4	126238149	126238149	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:126238149G>A	uc003ifj.3	+	1	583	c.583G>A	c.(583-585)GGC>AGC	p.G195S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	195	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAACCCGAGCGGCGAGGGAGC	0.647											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LARP1B	55132	broad.mit.edu	37	4	129012197	129012197	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:129012197G>A	uc003iga.2	+	6	531	c.400G>A	c.(400-402)GTT>ATT	p.V134I	LARP1B_uc003ifw.1_Missense_Mutation_p.V87I|LARP1B_uc003ifx.2_Missense_Mutation_p.V134I|LARP1B_uc003ify.2_Missense_Mutation_p.V134I|LARP1B_uc003ifz.1_Missense_Mutation_p.V134I	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	134	Arg-rich.						RNA binding				0						TCAAGATGACGTTTCCAGTGT	0.418												
PCDH10	57575	broad.mit.edu	37	4	134071927	134071927	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:134071927G>T	uc003iha.2	+	1	1458	c.632G>T	c.(631-633)GGA>GTA	p.G211V	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G211V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	211	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ggtgggggaggagtaggagaa	0.488												
MAML3	55534	broad.mit.edu	37	4	140811117	140811117	+	Silent	SNP	C	C	T	rs62344938		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:140811117C>T	uc003ihz.1	-	2	2225	c.1473G>A	c.(1471-1473)CAG>CAA	p.Q491Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	491	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.284												
TBC1D9	23158	broad.mit.edu	37	4	141590794	141590794	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:141590794C>T	uc010ioj.2	-	8	1703	c.1431G>A	c.(1429-1431)CCG>CCA	p.P477P		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	477						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCACCAATTTCGGGTTGAACT	0.463												
RNF150	57484	broad.mit.edu	37	4	141888838	141888838	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:141888838G>A	uc003iio.1	-	2	1328	c.674C>T	c.(673-675)GCA>GTA	p.A225V	RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Missense_Mutation_p.A225V	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	ring finger protein 150 precursor	225	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)	1	all_hematologic(180;0.162)					GACGAGCCATGCGAGGGAAAT	0.418												
OTUD4	54726	broad.mit.edu	37	4	146071816	146071816	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:146071816G>A	uc003ika.3	-	13	1051	c.913C>T	c.(913-915)CCA>TCA	p.P305S	OTUD4_uc003ijz.3_Missense_Mutation_p.P304S	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	369							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					GCTTTTATTGGCTTGCTTGGA	0.423												
TLR2	7097	broad.mit.edu	37	4	154626008	154626008	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:154626008G>A	uc003inq.2	+	3	2168	c.1949G>A	c.(1948-1950)CGG>CAG	p.R650Q	TLR2_uc003inr.2_Missense_Mutation_p.R650Q|TLR2_uc003ins.2_Missense_Mutation_p.R650Q	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	650	TIR.|Cytoplasmic (Potential).				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			ovary(1)|lung(1)|breast(1)	3	all_hematologic(180;0.093)	Renal(120;0.117)				TACAGTGAGCGGGATGCCTAC	0.502												
FGB	2244	broad.mit.edu	37	4	155487066	155487066	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:155487066G>A	uc003ioa.3	+	2	260	c.221G>A	c.(220-222)CGT>CAT	p.R74H	FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.R71H|FGB_uc010ipv.2_Intron|FGB_uc010ipw.2_Missense_Mutation_p.R71H|FGB_uc003ioc.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	74			R -> C (in Nijmegen).|Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TATCGGGCTCGTCCAGCCAAA	0.587												
LRAT	9227	broad.mit.edu	37	4	155665965	155665965	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:155665965C>T	uc003iom.1	+	1	814	c.487C>T	c.(487-489)CAC>TAC	p.H163Y	uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.H163Y	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	163	Cytoplasmic (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CAACTGCGAGCACTTCGTGAC	0.602												
PDGFC	56034	broad.mit.edu	37	4	157771444	157771444	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:157771444C>A	uc003iph.1	-	2	734	c.243G>T	c.(241-243)GAG>GAT	p.E81D	PDGFC_uc003ipi.1_Translation_Start_Site|PDGFC_uc011cis.1_Intron|PDGFC_uc011cir.1_Translation_Start_Site	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	81	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATACATTTTCCTCTACTGCTA	0.373												
FAM198B	51313	broad.mit.edu	37	4	159091752	159091752	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:159091752C>T	uc003ipp.3	-	2	1228	c.776G>A	c.(775-777)CGC>CAC	p.R259H	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R259H|FAM198B_uc003ipr.3_Missense_Mutation_p.R259H|FAM198B_uc003ips.2_Missense_Mutation_p.R259H|uc003ipt.1_5'Flank	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	259	Extracellular (Potential).					Golgi membrane|integral to membrane					0						AGGGCCACAGCGGAGCACAGC	0.657											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FSTL5	56884	broad.mit.edu	37	4	162307295	162307295	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:162307295T>C	uc003iqh.2	-	16	2584	c.2148A>G	c.(2146-2148)GTA>GTG	p.V716V	FSTL5_uc003iqi.2_Silent_p.V715V|FSTL5_uc010iqv.2_Silent_p.V706V|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	716						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACTGAACCCTTACAAGACCTT	0.423												
NPY5R	4889	broad.mit.edu	37	4	164272119	164272119	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:164272119A>G	uc003iqn.2	+	4	876	c.694A>G	c.(694-696)ACA>GCA	p.T232A		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	232	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTAAGTCATACAAGTGTCTG	0.363												
WDR17	116966	broad.mit.edu	37	4	177052881	177052881	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:177052881A>G	uc003iuj.2	+	8	1318	c.1162A>G	c.(1162-1164)AGA>GGA	p.R388G	WDR17_uc003iuk.2_Missense_Mutation_p.R364G|WDR17_uc003ium.3_Missense_Mutation_p.R364G|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	388										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGATTTTCTTAGAGACTTGGT	0.343												
ENPP6	133121	broad.mit.edu	37	4	185018479	185018479	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:185018479G>A	uc003iwc.2	-	7	1178	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	346	Extracellular (Potential).				lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CAACCTTCCCGCCTGCCGGTG	0.592												
ACSL1	2180	broad.mit.edu	37	4	185689544	185689544	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:185689544T>C	uc003iww.2	-	12	1348	c.1054A>G	c.(1054-1056)ATG>GTG	p.M352V	ACSL1_uc011ckm.1_Missense_Mutation_p.M181V|ACSL1_uc003iwt.1_Missense_Mutation_p.M352V|ACSL1_uc003iwu.1_Missense_Mutation_p.M352V|ACSL1_uc011ckn.1_Missense_Mutation_p.M318V|ACSL1_uc003iwv.1_Missense_Mutation_p.M352V|ACSL1_uc003iws.1_5'Flank|ACSL1_uc010ise.1_RNA	NM_001995	NP_001986	P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	352	Cytoplasmic (Potential).				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			ovary(2)	2		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGTCATCCATGAGCAGCCTG	0.463												
CCDC110	256309	broad.mit.edu	37	4	186381015	186381015	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:186381015G>A	uc003ixu.3	-	6	802	c.726C>T	c.(724-726)TGC>TGT	p.C242C	CCDC110_uc003ixv.3_Silent_p.C205C|CCDC110_uc011ckt.1_Silent_p.C242C	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	242						nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGATAGAATGGCAAATGTCAT	0.353												
FAT1	2195	broad.mit.edu	37	4	187542246	187542246	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:187542246C>T	uc003izf.2	-	10	5682	c.5494G>A	c.(5494-5496)GTA>ATA	p.V1832I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1832	Extracellular (Potential).|Cadherin 16.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						AGACTTAGTACTGTATGAATA	0.383										HNSCC(5;0.00058)		
C5orf49	134121	broad.mit.edu	37	5	7851031	7851031	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:7851031C>T	uc003jea.3	-	1	234	c.104G>A	c.(103-105)CGC>CAC	p.R35H		NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN	hypothetical protein LOC134121	35											0						GGGGTCCAGGCGCCGCGGCGG	0.642												
ANKH	56172	broad.mit.edu	37	5	14758594	14758594	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:14758594C>T	uc003jfm.3	-	3	758	c.427G>A	c.(427-429)GCA>ACA	p.A143T		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	143	Helical; (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						CTCACCATTGCGTCCATGAAA	0.338												
MARCH11	441061	broad.mit.edu	37	5	16091068	16091068	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:16091068C>T	uc003jfo.2	-	3	1029	c.816G>A	c.(814-816)GTG>GTA	p.V272V	MARCH11_uc010itw.1_Silent_p.V28V	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	272						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						TCCTCTGCCACACTGCATAGG	0.453												
CDH9	1007	broad.mit.edu	37	5	26881726	26881726	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:26881726A>G	uc003jgs.1	-	12	2058	c.1889T>C	c.(1888-1890)GTC>GCC	p.V630A	CDH9_uc011cnv.1_Missense_Mutation_p.V223A	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	630	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						AAACAACACGACTAAAACTAT	0.378												
PDZD2	23037	broad.mit.edu	37	5	32058196	32058196	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:32058196A>G	uc003jhl.2	+	12	2575	c.2187A>G	c.(2185-2187)GTA>GTG	p.V729V	PDZD2_uc003jhm.2_Silent_p.V729V|PDZD2_uc011cnx.1_Silent_p.V555V	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	729	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TCATGGAAGTAACACTCAACA	0.468												
ZFR	51663	broad.mit.edu	37	5	32403354	32403354	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:32403354G>A	uc003jhr.1	-	8	1453	c.1373C>T	c.(1372-1374)ACG>ATG	p.T458M		NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	458					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		AACTGATGACGTATTCACAGT	0.423												
NPR3	4883	broad.mit.edu	37	5	32712408	32712408	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:32712408C>T	uc003jhv.2	+	1	744	c.526C>T	c.(526-528)CGC>TGC	p.R176C	NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.R176C	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	176	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)	GCACCTCACGCGCGTGGCGCC	0.672												
ADAMTS12	81792	broad.mit.edu	37	5	33649731	33649731	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:33649731C>T	uc003jia.1	-	8	1425	c.1262G>A	c.(1261-1263)CGC>CAC	p.R421H	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R421H	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	421	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CTGGAGCTGGCGGGACATGAT	0.547										HNSCC(64;0.19)		
RAI14	26064	broad.mit.edu	37	5	34821836	34821836	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:34821836G>A	uc003jir.2	+	14	1191	c.995_splice	c.e14-1	p.G332_splice	RAI14_uc010iur.2_Splice_Site_p.G303_splice|RAI14_uc011coj.1_Splice_Site_p.G332_splice|RAI14_uc010ius.1_Splice_Site_p.G261_splice|RAI14_uc003jis.2_Splice_Site_p.G335_splice|RAI14_uc003jit.2_Splice_Site_p.G332_splice|RAI14_uc011cok.1_Splice_Site_p.G324_splice	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a							cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					TCTTTCCCAAGGTGCTGATAG	0.363												
SPEF2	79925	broad.mit.edu	37	5	35705773	35705773	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:35705773A>G	uc003jjo.2	+	18	2639	c.2528A>G	c.(2527-2529)AAC>AGC	p.N843S	SPEF2_uc003jjq.3_Missense_Mutation_p.N838S|SPEF2_uc003jjp.1_Missense_Mutation_p.N329S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	843					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)			TTCTTGGACAACTGGCCTTTA	0.294												
NIPBL	25836	broad.mit.edu	37	5	36984875	36984875	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:36984875G>A	uc003jkl.3	+	10	2092	c.1593G>A	c.(1591-1593)ACG>ACA	p.T531T	NIPBL_uc003jkk.3_Silent_p.T531T|NIPBL_uc003jkm.1_Silent_p.T410T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	531					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)			CGGGTTCTACGGGAAATGGGT	0.463												
RICTOR	253260	broad.mit.edu	37	5	38947419	38947419	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:38947419A>G	uc003jlp.2	-	32	4285	c.4261T>C	c.(4261-4263)TCA>CCA	p.S1421P	RICTOR_uc003jlo.2_Missense_Mutation_p.S1445P|RICTOR_uc010ivf.2_Missense_Mutation_p.S1136P	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1421					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)					TAATCATCTGAACCCCCATAT	0.373												
RPL37	6167	broad.mit.edu	37	5	40834687	40834687	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:40834687C>T	uc003jme.1	-	2	125	c.25G>A	c.(25-27)GGA>AGA	p.G9R	SNORD72_uc003jmf.1_5'Flank	NM_000997	NP_000988	P61927	RL37_HUMAN	ribosomal protein L37	9					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome				0		Breast(839;0.238)				CGACGCTTTCCAAACGATGAC	0.493												
FBXO4	26272	broad.mit.edu	37	5	41927195	41927195	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:41927195T>C	uc003jmq.2	+	2	326	c.270T>C	c.(268-270)AAT>AAC	p.N90N	FBXO4_uc003jmp.2_Silent_p.N90N|FBXO4_uc003jmr.2_Silent_p.N90N	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	F-box only protein 4 isoform 1	90	F-box.				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			liver(1)	1		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ATTATTGGAATGAAACTGTAA	0.378												
PARP8	79668	broad.mit.edu	37	5	50090969	50090969	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:50090969T>C	uc003jon.3	+	13	1328	c.1146T>C	c.(1144-1146)CAT>CAC	p.H382H	PARP8_uc011cpz.1_Silent_p.H274H|PARP8_uc003joo.2_Silent_p.H382H|PARP8_uc003jop.2_Silent_p.H382H	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	382						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				TAAAGTCGCATAGACTATTGA	0.453												
IL6ST	3572	broad.mit.edu	37	5	55237207	55237207	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:55237207A>G	uc003jqq.2	-	17	2715	c.2460T>C	c.(2458-2460)AGT>AGC	p.S820S	uc003jqp.2_5'Flank|IL6ST_uc010iwb.2_Silent_p.S759S|IL6ST_uc010iwc.2_3'UTR|IL6ST_uc010iwd.2_Silent_p.S139S|IL6ST_uc011cqk.1_Silent_p.S531S|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	820	Cytoplasmic (Potential).				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATTCATGCTGACTGCAGTTCT	0.403			O		hepatocellular ca							
IL6ST	3572	broad.mit.edu	37	5	55260022	55260022	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:55260022G>T	uc003jqq.2	-	6	865	c.610C>A	c.(610-612)CTT>ATT	p.L204I	IL6ST_uc010iwb.2_Missense_Mutation_p.L204I|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_5'UTR|IL6ST_uc003jqr.2_Missense_Mutation_p.L204I|IL6ST_uc010iwf.1_RNA	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	204	Extracellular (Potential).|Fibronectin type-III 1.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ACCTTCCCAAGGGCATTCTCT	0.373			O		hepatocellular ca							
ANKRD55	79722	broad.mit.edu	37	5	55407273	55407273	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:55407273C>T	uc003jqu.2	-	10	1454	c.1302G>A	c.(1300-1302)ACG>ACA	p.T434T	ANKRD55_uc003jqt.2_Silent_p.T146T	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	433										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGAGACTCTGCGTTCTGATTG	0.502												
PDE4D	5144	broad.mit.edu	37	5	58334702	58334702	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:58334702T>C	uc003jsa.2	-	6	1077	c.905A>G	c.(904-906)GAG>GGG	p.E302G	PDE4D_uc003jrx.2_Missense_Mutation_p.E166G|PDE4D_uc003jry.2_5'UTR|PDE4D_uc003jrz.2_Missense_Mutation_p.E238G|PDE4D_uc003jsb.2_Missense_Mutation_p.E241G|PDE4D_uc003jrt.2_5'UTR|PDE4D_uc003jru.2_Missense_Mutation_p.E78G|PDE4D_uc003jrv.2_Missense_Mutation_p.E172G|PDE4D_uc003jrw.2_Missense_Mutation_p.E180G|PDE4D_uc010iwi.1_Intron	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 1	302					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GGAGGCCATCTCACTGACGGA	0.627												
PDE4D	5144	broad.mit.edu	37	5	59284348	59284348	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:59284348G>A	uc003jsb.2	-	3	452	c.239C>T	c.(238-240)CCG>CTG	p.P80L	PDE4D_uc010iwj.1_Missense_Mutation_p.P80L|PDE4D_uc003jse.1_Missense_Mutation_p.P92L	NM_006203	NP_006194	Q08499	PDE4D_HUMAN	phosphodiesterase 4D isoform 2	Error:Variant_position_missing_in_Q08499_after_alignment					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGCAATCAGCGGCAGAATCTT	0.468												
KIF2A	3796	broad.mit.edu	37	5	61659560	61659560	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:61659560G>A	uc003jsy.3	+	14	1612	c.1301G>A	c.(1300-1302)CGG>CAG	p.R434Q	KIF2A_uc003jsz.3_Missense_Mutation_p.R434Q|KIF2A_uc010iwp.2_Missense_Mutation_p.R415Q|KIF2A_uc003jsx.3_Missense_Mutation_p.R414Q|KIF2A_uc010iwq.2_Missense_Mutation_p.R237Q	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	434	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CATTCATCTCGGAGCCATGCA	0.363												
ADAMTS6	11174	broad.mit.edu	37	5	64587290	64587290	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:64587290G>A	uc003jtp.2	-	11	2192	c.1378C>T	c.(1378-1380)CGT>TGT	p.R460C	ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.R81C	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1	460	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CAAGTACCACGGCCTGAACTG	0.423												
CD180	4064	broad.mit.edu	37	5	66478997	66478997	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:66478997G>A	uc003juy.2	-	3	1822	c.1674C>T	c.(1672-1674)ATC>ATT	p.I558I		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	558	LRR 19.|Extracellular (Potential).				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GACGGGGTGAGATGATGTTAA	0.453												
PDE8B	8622	broad.mit.edu	37	5	76700591	76700591	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:76700591C>T	uc003kfa.2	+	12	1302	c.1257C>T	c.(1255-1257)GAC>GAT	p.D419D	PDE8B_uc003kfb.2_Silent_p.D399D|PDE8B_uc003kfc.2_Silent_p.D419D|PDE8B_uc003kfd.2_Silent_p.D372D|PDE8B_uc003kfe.2_Silent_p.D322D	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	419					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AGTCCATTGACGTGAAATCGA	0.353												
WDR41	55255	broad.mit.edu	37	5	76747154	76747154	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:76747154G>T	uc003kff.1	-	7	835	c.548C>A	c.(547-549)CCT>CAT	p.P183H	WDR41_uc011csy.1_Intron|WDR41_uc011csz.1_Missense_Mutation_p.P128H|WDR41_uc011cta.1_Intron|WDR41_uc011ctb.1_RNA	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	183											0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		ACAGTTCTTAGGTATTTCAAC	0.308												
WDR41	55255	broad.mit.edu	37	5	76788053	76788053	+	Translation_Start_Site	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:76788053G>T	uc003kff.1	-	1	280	c.-7C>A	c.(-9--5)CGCTG>CGATG		WDR41_uc011csy.1_Translation_Start_Site|WDR41_uc011csz.1_Translation_Start_Site|WDR41_uc011cta.1_RNA|WDR41_uc011ctb.1_RNA	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41												0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CATCCGGGCAGCGGCGGCGTC	0.682												
ACOT12	134526	broad.mit.edu	37	5	80689868	80689868	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:80689868C>T	uc003khl.3	-	1	121	c.66G>A	c.(64-66)GCG>GCA	p.A22A	RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Silent_p.A22A	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	22	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GCTCGCCGCGCGCAGTGGCGT	0.582												
VCAN	1462	broad.mit.edu	37	5	82815289	82815289	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:82815289A>G	uc003kii.3	+	7	1520	c.1164A>G	c.(1162-1164)TTA>TTG	p.L388L	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.L388L|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	388	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)		TTGATGAATTACCTGTCATTC	0.423												
LYSMD3	116068	broad.mit.edu	37	5	89820956	89820956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:89820956G>A	uc003kjr.2	-	2	299	c.151C>T	c.(151-153)CGA>TGA	p.R51*	LYSMD3_uc010jaz.1_Nonsense_Mutation_p.R51*|LYSMD3_uc003kjs.1_Nonsense_Mutation_p.R51*	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	51	Extracellular (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GTACTTCTTCGGACTTTCTCT	0.368												
NR2F1	7025	broad.mit.edu	37	5	92924128	92924128	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:92924128A>C	uc003kkj.2	+	2	2656	c.969A>C	c.(967-969)AAA>AAC	p.K323N		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	323					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCTGCCTCAAAGCCATCGTGC	0.463												
RFESD	317671	broad.mit.edu	37	5	94989932	94989932	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:94989932G>A	uc003klf.2	+	3	1559	c.167G>A	c.(166-168)CGC>CAC	p.R56H	RFESD_uc003klg.2_Missense_Mutation_p.R109H|RFESD_uc011cun.1_Missense_Mutation_p.R109H|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	NM_173362	NP_775498	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing isoform 2	56	Rieske 2.|Rieske 1.						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity				0		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		ATGGATATTCGCTGTTACCGT	0.313												
PAM	5066	broad.mit.edu	37	5	102284105	102284105	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:102284105A>G	uc003knw.2	+	8	972	c.599A>G	c.(598-600)TAC>TGC	p.Y200C	PAM_uc003kns.2_Missense_Mutation_p.Y200C|PAM_uc003knt.2_Missense_Mutation_p.Y200C|PAM_uc003knu.2_Missense_Mutation_p.Y200C|PAM_uc003knv.2_Missense_Mutation_p.Y200C|PAM_uc011cuz.1_Missense_Mutation_p.Y103C	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	200	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding				0		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GCTGGCATGTACCTTATGATG	0.328												
PAM	5066	broad.mit.edu	37	5	102326056	102326056	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:102326056A>G	uc003knw.2	+	15	1937	c.1564A>G	c.(1564-1566)AAG>GAG	p.K522E	PAM_uc003kns.2_Missense_Mutation_p.K415E|PAM_uc003knt.2_Missense_Mutation_p.K522E|PAM_uc003knu.2_Missense_Mutation_p.K522E|PAM_uc003knv.2_Missense_Mutation_p.K522E|PAM_uc011cuz.1_Missense_Mutation_p.K425E|PAM_uc003knx.1_Missense_Mutation_p.K125E	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	522	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).|NHL 1.|Intragranular (Potential).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding				0		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TCTAGACCCTAAGAATAACCT	0.398												
C5orf30	90355	broad.mit.edu	37	5	102612180	102612180	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:102612180A>G	uc003kog.1	+	3	829	c.560A>G	c.(559-561)CAG>CGG	p.Q187R	C5orf30_uc003koh.1_Missense_Mutation_p.Q187R	NM_033211	NP_149988	Q96GV9	CE030_HUMAN	hypothetical protein LOC90355	187											0		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		GAAGTGCTACAGTACCAGCTT	0.443												
APC	324	broad.mit.edu	37	5	112178041	112178041	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:112178041C>T	uc010jby.2	+	16	7130	c.6750C>T	c.(6748-6750)GGC>GGT	p.G2250G	APC_uc011cvt.1_Silent_p.G2232G|APC_uc003kpz.3_Silent_p.G2250G|APC_uc003kpy.3_Silent_p.G2250G|APC_uc010jbz.2_Silent_p.G1967G|APC_uc010jca.2_Silent_p.G1550G	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2250	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTAAAAAAGGCCCACCCCTTA	0.463		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
DMXL1	1657	broad.mit.edu	37	5	118485998	118485998	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:118485998C>T	uc003ksd.2	+	18	4657	c.4476C>T	c.(4474-4476)CAC>CAT	p.H1492H	DMXL1_uc010jcl.1_Silent_p.H1492H	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1492										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTTCTGGCCACTTACTTCATT	0.428												
PRR16	51334	broad.mit.edu	37	5	120021789	120021789	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:120021789T>C	uc003ksq.2	+	2	463	c.300T>C	c.(298-300)AAT>AAC	p.N100N	PRR16_uc003ksp.2_Silent_p.N77N|PRR16_uc003ksr.2_Silent_p.N30N	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	100										pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TGCAGGCTAATGCACCGCTTA	0.527												
C5orf48	389320	broad.mit.edu	37	5	125971812	125971812	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:125971812G>A	uc003kub.1	+	3	297	c.284G>A	c.(283-285)CGT>CAT	p.R95H		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	hypothetical protein LOC389320	95										ovary(1)	1						GGGGAAGATCGTAAAGTTGTC	0.443												
MEGF10	84466	broad.mit.edu	37	5	126754877	126754877	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:126754877C>T	uc003kuh.3	+	12	1733	c.1371C>T	c.(1369-1371)GGC>GGT	p.G457G	MEGF10_uc010jdc.1_Silent_p.G457G|MEGF10_uc010jdd.1_Silent_p.G457G|MEGF10_uc003kui.3_Silent_p.G457G	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	457	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 8.				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)		CTCGCTGTGGCTGTAAAAATG	0.453												
FBN2	2201	broad.mit.edu	37	5	127623049	127623049	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:127623049G>A	uc003kuu.2	-	54	7270	c.6831C>T	c.(6829-6831)TGC>TGT	p.C2277C		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2277	EGF-like 38; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCGGGCACGTGCATTCATAGG	0.488												
FBN2	2201	broad.mit.edu	37	5	127681173	127681173	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:127681173C>T	uc003kuu.2	-	24	3532	c.3093G>A	c.(3091-3093)GCG>GCA	p.A1031A	FBN2_uc003kuv.2_Silent_p.A998A	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1031	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCCCCAAGCCGCCCCGACAG	0.597												
ADAMTS19	171019	broad.mit.edu	37	5	128958012	128958012	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:128958012C>T	uc003kvb.1	+	10	1723	c.1723C>T	c.(1723-1725)CCA>TCA	p.P575S	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	575	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCTTTTTGGGCCATTGGCTTC	0.448												
ADAMTS19	171019	broad.mit.edu	37	5	128983569	128983569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:128983569C>T	uc003kvb.1	+	12	1966	c.1966C>T	c.(1966-1968)CGA>TGA	p.R656*	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	656	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GATCAGCAGTCGAGAGCGCAA	0.507												
ZCCHC10	54819	broad.mit.edu	37	5	132334415	132334415	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:132334415T>C	uc003kyh.2	-	5	450	c.439A>G	c.(439-441)AGT>GGT	p.S147G	ZCCHC10_uc003kyg.2_Missense_Mutation_p.S125G|ZCCHC10_uc011cxl.1_Missense_Mutation_p.S111G	NM_017665	NP_060135	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	147	Ser-rich.						nucleic acid binding|zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			gatgaggaactagaggagCTT	0.353												
CATSPER3	347732	broad.mit.edu	37	5	134344663	134344663	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:134344663C>T	uc003lag.2	+	5	876	c.808C>T	c.(808-810)CAC>TAC	p.H270Y		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	270					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATGATCATGCACACAGAGGT	0.547												
SLC35A4	113829	broad.mit.edu	37	5	139947548	139947548	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:139947548T>G	uc003lgg.1	+	3	1522	c.794T>G	c.(793-795)CTG>CGG	p.L265R	SLC35A4_uc003lgh.1_Missense_Mutation_p.L265R	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	265	Helical; (Potential).|Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAAATGGACTGCTCATGTCT	0.592												
PCDHA6	56142	broad.mit.edu	37	5	140208920	140208920	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140208920G>A	uc003lho.2	+	1	1271	c.1244G>A	c.(1243-1245)CGC>CAC	p.R415H	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.R415H|PCDHA6_uc011dab.1_Missense_Mutation_p.R415H	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	415	Cadherin 4.|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)			GCCCTGGACCGCGAGAGCGTG	0.627												
PCDHA7	56141	broad.mit.edu	37	5	140215835	140215835	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140215835C>T	uc003lhq.2	+	1	1867	c.1867C>T	c.(1867-1869)CGC>TGC	p.R623C	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_uc011dac.1_Missense_Mutation_p.R623C	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	623	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCGTTCCGCGTGGGGCT	0.627												
PCDHA12	56137	broad.mit.edu	37	5	140256507	140256507	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140256507G>A	uc003lic.2	+	1	1577	c.1450G>A	c.(1450-1452)GCG>ACG	p.A484T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.A484T	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	484	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGAAGAA	0.662												
PCDHA13	56136	broad.mit.edu	37	5	140263263	140263263	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140263263G>A	uc003lif.2	+	1	1410	c.1410G>A	c.(1408-1410)CCG>CCA	p.P470P	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.P470P|PCDHA13_uc003lid.2_Silent_p.P470P	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	470	Cadherin 5.|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)			ACAATCCGCCGGGCTGCCACA	0.682												
PCDHB3	56132	broad.mit.edu	37	5	140481929	140481929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140481929C>T	uc003lio.2	+	1	1696	c.1696C>T	c.(1696-1698)CAG>TAG	p.Q566*	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	566	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTACCCGCTGCAGAACGGCTC	0.711												
PCDHB4	56131	broad.mit.edu	37	5	140503537	140503537	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140503537G>A	uc003lip.1	+	1	1957	c.1957G>A	c.(1957-1959)GCC>ACC	p.A653T		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	653	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGCGCTCGGCCACCGCCAC	0.701												
PCDHB8	56128	broad.mit.edu	37	5	140559250	140559250	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140559250G>T	uc011dai.1	+	1	1821	c.1635G>T	c.(1633-1635)GAG>GAT	p.E545D	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	545	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)			TGAGCAGCGAGGCGCTGGTGC	0.697												
PCDHB12	56124	broad.mit.edu	37	5	140589805	140589805	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140589805C>T	uc003liz.2	+	1	1515	c.1326C>T	c.(1324-1326)TCC>TCT	p.S442S	PCDHB12_uc011dak.1_Silent_p.S105S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	442	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCTCCGACGTCAATG	0.597												
PCDHGA5	56110	broad.mit.edu	37	5	140744719	140744719	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140744719C>T	uc003lju.1	+	1	822	c.822C>T	c.(820-822)AAC>AAT	p.N274N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.N274N	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	274	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGAATAAACGGGAAATTGA	0.478												
PCDHGA6	56109	broad.mit.edu	37	5	140755384	140755384	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140755384G>A	uc003ljy.1	+	1	1734	c.1734G>A	c.(1732-1734)GCG>GCA	p.A578A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.A578A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	578	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)			TGGAGCTGGCGCCCCGCTCCG	0.657												
PCDHGA10	56106	broad.mit.edu	37	5	140792938	140792938	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140792938C>T	uc003lkl.1	+	1	196	c.196C>T	c.(196-198)CGC>TGC	p.R66C	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.R66C	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	66	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCGGAGCGCGGAGTCCG	0.607												
PCDHGB7	56099	broad.mit.edu	37	5	140798759	140798759	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140798759G>A	uc003lkn.1	+	1	1478	c.1333G>A	c.(1333-1335)GTC>ATC	p.V445I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.V445I|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	445	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTACTGACGTCAATGACAA	0.572												
PCDHGA11	56105	broad.mit.edu	37	5	140801792	140801792	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140801792C>T	uc003lkq.1	+	1	1256	c.998C>T	c.(997-999)ACG>ATG	p.T333M	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_Missense_Mutation_p.T333M|PCDHGA11_uc003lkp.1_Missense_Mutation_p.T333M	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	333	Extracellular (Potential).|Cadherin 3.				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)			ACCACCACGACGATGTTGATC	0.413												
PCDHGC3	5098	broad.mit.edu	37	5	140855830	140855830	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140855830C>T	uc003lkv.1	+	1	262	c.147C>T	c.(145-147)AAC>AAT	p.N49N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.N49N|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	49	Cadherin 1.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGCAACGTGGTCGCGA	0.552												
RELL2	285613	broad.mit.edu	37	5	141017821	141017821	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:141017821C>T	uc003lli.2	+	2	877	c.29C>T	c.(28-30)CCG>CTG	p.P10L	HDAC3_uc003llf.2_5'Flank|HDAC3_uc010jgd.1_5'Flank|HDAC3_uc010jge.1_5'Flank|RELL2_uc003llh.2_Missense_Mutation_p.P10L|RELL2_uc003llg.2_Intron|RELL2_uc010jgf.2_Intron	NM_001130029	NP_001123501	Q8NC24	RELL2_HUMAN	RELT-like 2	10						integral to membrane|plasma membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTGGAACCGCCCCAACAT	0.627												
PPP2R2B	5521	broad.mit.edu	37	5	146257587	146257587	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:146257587G>A	uc003loe.2	-	1	573	c.48C>T	c.(46-48)CGC>CGT	p.R16R	PPP2R2B_uc010jgm.2_5'UTR|PPP2R2B_uc003log.3_Silent_p.R16R|PPP2R2B_uc003lof.3_Silent_p.R16R|PPP2R2B_uc003loi.3_Intron|PPP2R2B_uc003loh.3_Silent_p.R16R|PPP2R2B_uc003loj.3_Intron|PPP2R2B_uc003lok.3_Intron|PPP2R2B_uc011dbu.1_Intron|PPP2R2B_uc011dbv.1_Silent_p.R74R	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	16					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTGTGGTCGCGCAGGAAAC	0.597												
NMUR2	56923	broad.mit.edu	37	5	151784218	151784218	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:151784218G>A	uc003luv.2	-	1	623	c.457C>T	c.(457-459)CGC>TGC	p.R153C		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	153	Cytoplasmic (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGTTTGGCGCGGAACGGGTGT	0.637												
GRIA1	2890	broad.mit.edu	37	5	153030057	153030057	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:153030057A>G	uc003lva.3	+	4	993	c.628A>G	c.(628-630)AAT>GAT	p.N210D	GRIA1_uc003luy.3_Missense_Mutation_p.N210D|GRIA1_uc003luz.3_Missense_Mutation_p.N115D|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.N130D|GRIA1_uc011dcx.1_Missense_Mutation_p.N141D|GRIA1_uc011dcy.1_Missense_Mutation_p.N220D|GRIA1_uc011dcz.1_Missense_Mutation_p.N220D|GRIA1_uc010jia.1_Missense_Mutation_p.N190D	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	210	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAACGCCTCAATGCTATCTT	0.517												
GRIA1	2890	broad.mit.edu	37	5	153085522	153085522	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:153085522G>A	uc003lva.3	+	11	2083	c.1718G>A	c.(1717-1719)GGA>GAA	p.G573E	GRIA1_uc003luy.3_Missense_Mutation_p.G573E|GRIA1_uc003luz.3_Missense_Mutation_p.G478E|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.G493E|GRIA1_uc011dcx.1_Missense_Mutation_p.G504E|GRIA1_uc011dcy.1_Missense_Mutation_p.G583E|GRIA1_uc011dcz.1_Missense_Mutation_p.G583E|GRIA1_uc010jia.1_Missense_Mutation_p.G553E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	573	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding			ovary(4)|skin(2)	6		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTGAGGAAGGACGGGACCAG	0.488												
CNOT8	9337	broad.mit.edu	37	5	154250333	154250333	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:154250333A>T	uc003lvu.2	+	5	903	c.424A>T	c.(424-426)ACA>TCA	p.T142S	CNOT8_uc011ddf.1_Missense_Mutation_p.T36S|CNOT8_uc011ddg.1_Missense_Mutation_p.T36S|CNOT8_uc011ddh.1_Intron|CNOT8_uc003lvv.2_Missense_Mutation_p.T142S|CNOT8_uc010jig.2_Missense_Mutation_p.T36S|CNOT8_uc010jif.2_Missense_Mutation_p.T36S|CNOT8_uc003lvw.2_Missense_Mutation_p.T142S|CNOT8_uc011ddi.1_Missense_Mutation_p.T36S|CNOT8_uc011ddj.1_Intron	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	142					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGCTTATGACATCAGGAGT	0.453								Direct_reversal_of_damage				
SGCD	6444	broad.mit.edu	37	5	156186283	156186283	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:156186283C>T	uc003lwd.3	+	8	1228	c.752C>T	c.(751-753)ACG>ATG	p.T251M	SGCD_uc003lwc.3_Missense_Mutation_p.T252M	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	delta-sarcoglycan isoform 3	251	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATCCTACACGCCTACAGGA	0.498												
ADRA1B	147	broad.mit.edu	37	5	159399041	159399041	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:159399041G>A	uc003lxt.1	+	2	1278	c.1105G>A	c.(1105-1107)GGC>AGC	p.G369S		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	369	Cytoplasmic (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CCAGTgccgcggccgcggccg	0.522												
ATP10B	23120	broad.mit.edu	37	5	160044942	160044942	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:160044942G>A	uc003lym.1	-	16	3302	c.2455C>T	c.(2455-2457)CGA>TGA	p.R819*	ATP10B_uc010jit.1_Nonsense_Mutation_p.R136*|ATP10B_uc003lyn.2_Nonsense_Mutation_p.R377*	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	819	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCCGGGCTCGGATTTTTCTC	0.473												
SH3PXD2B	285590	broad.mit.edu	37	5	171766919	171766919	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:171766919A>G	uc003mbr.2	-	13	1361	c.1190T>C	c.(1189-1191)GTG>GCG	p.V397A		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	397	SH3 3.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	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)			TTTCTCGATCACCTGCAAGGG	0.517												
STC2	8614	broad.mit.edu	37	5	172755134	172755134	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:172755134C>T	uc003mco.1	-	1	1373	c.63G>A	c.(61-63)CCG>CCA	p.P21P	STC2_uc003mcn.1_5'Flank	NM_003714	NP_003705	O76061	STC2_HUMAN	stanniocalcin 2 precursor	21					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCCCCCGCGCCGGGTCAAAGG	0.622												
CDHR2	54825	broad.mit.edu	37	5	176017111	176017111	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:176017111A>G	uc003mem.1	+	25	3305	c.3239A>G	c.(3238-3240)TAC>TGC	p.Y1080C	CDHR2_uc003men.1_Missense_Mutation_p.Y1080C	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1080	Extracellular (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						ACTACAGTATACATTGTGGAC	0.607												
GPRIN1	114787	broad.mit.edu	37	5	176025264	176025264	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:176025264C>T	uc003meo.1	-	2	1747	c.1572G>A	c.(1570-1572)TCG>TCA	p.S524S		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	524						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCTTCTCCGAGGACAGGG	0.652												
UNC5A	90249	broad.mit.edu	37	5	176289759	176289759	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:176289759C>T	uc003mey.2	+	2	397	c.205C>T	c.(205-207)CCC>TCC	p.P69S	UNC5A_uc003mex.1_Missense_Mutation_p.P69S|UNC5A_uc010jkg.1_5'UTR	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	69	Ig-like.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAGGCCGTGCCCGCCACGCA	0.632												
DDX41	51428	broad.mit.edu	37	5	176942216	176942216	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:176942216T>C	uc003mho.2	-	7	636	c.615A>G	c.(613-615)ACA>ACG	p.T205T	DDX41_uc003mhm.2_5'UTR|DDX41_uc003mhn.2_Silent_p.T74T|DDX41_uc003mhp.2_Silent_p.T74T|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	205	Q motif.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			TCTGAATGGGTGTTGGGTGGT	0.483												
B4GALT7	11285	broad.mit.edu	37	5	177035941	177035941	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:177035941T>C	uc003mhy.2	+	5	794	c.754T>C	c.(754-756)TAC>CAC	p.Y252H	B4GALT7_uc003mhz.2_Missense_Mutation_p.Y138H	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase 7	252	Lumenal (Potential).				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			pancreas(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			CACAACTGGGTACAAGACATT	0.622												
ADAMTS2	9509	broad.mit.edu	37	5	178770846	178770846	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:178770846G>A	uc003mjw.2	-	2	456	c.456C>T	c.(454-456)CTC>CTT	p.L152L	ADAMTS2_uc011dgm.1_Silent_p.L152L	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	152					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GACAGCTCCCGAGCAGGGGCT	0.692												
MGAT4B	11282	broad.mit.edu	37	5	179226008	179226008	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:179226008G>A	uc003mks.2	-	11	1632	c.1263C>T	c.(1261-1263)CGC>CGT	p.R421R	MGAT4B_uc003mkp.2_Silent_p.R275R|MGAT4B_uc003mkq.2_Nonsense_Mutation_p.R197*|MGAT4B_uc003mkr.2_Silent_p.R436R|MIR1229_hsa-mir-1229|MI0006319_5'Flank	NM_014275	NP_055090	Q9UQ53	MGT4B_HUMAN	alpha-1,3-mannosyl-glycoprotein	421	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding				0	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAAGTCCTCGCGCAGGTAGG	0.612												
GNB2L1	10399	broad.mit.edu	37	5	180666109	180666109	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:180666109C>T	uc003mni.1	-	5	700	c.594G>A	c.(592-594)GTG>GTA	p.V198V	GNB2L1_uc003mnh.1_Silent_p.V157V|GNB2L1_uc003mnk.1_Silent_p.V120V|GNB2L1_uc003mnj.1_Silent_p.V152V|GNB2L1_uc003mnl.1_5'UTR|GNB2L1_uc011dhk.1_Silent_p.V198V|GNB2L1_uc010jls.2_3'UTR	NM_006098	NP_006089	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein),	198	WD 5.				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain 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;0.000209)|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)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GAGAGACAGTCACCGTGTTCA	0.532												
DUSP22	56940	broad.mit.edu	37	6	292507	292507	+	Translation_Start_Site	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:292507C>T	uc003msx.2	+	1	407	c.-32C>T	c.(-34--30)CACGG>CATGG		DUSP22_uc011dhn.1_Translation_Start_Site	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22						apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGCGACCACACGGCCGGGGCG	0.672												
BMP6	654	broad.mit.edu	37	6	7727782	7727782	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:7727782C>A	uc003mxu.3	+	1	772	c.594C>A	c.(592-594)TCC>TCA	p.S198S		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	198					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					GCGGCGCGTCCCCACTGACCA	0.672												
GFOD1	54438	broad.mit.edu	37	6	13365634	13365634	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:13365634C>T	uc003nat.1	-	2	1179	c.514G>A	c.(514-516)GGC>AGC	p.G172S	GFOD1_uc003nas.1_Missense_Mutation_p.G69S	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	172						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)			GAGTGCAGGCCGCCGCCGCCC	0.642												
ATXN1	6310	broad.mit.edu	37	6	16327407	16327407	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:16327407G>A	uc003nbt.2	-	8	2106	c.1135C>T	c.(1135-1137)CGG>TGG	p.R379W	ATXN1_uc010jpi.2_Missense_Mutation_p.R379W|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	379					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ACAGAGGCCCGGACCCCCGAA	0.637												
ATXN1	6310	broad.mit.edu	37	6	16327474	16327474	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:16327474G>A	uc003nbt.2	-	8	2039	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	ATXN1_uc010jpi.2_Silent_p.Y356Y|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	356					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCTGGACTCGTACGGGTGAG	0.662												
HIST1H2BC	8347	broad.mit.edu	37	6	26123917	26123917	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:26123917C>T	uc003ngk.3	-	1	238	c.216G>A	c.(214-216)GAG>GAA	p.E72E	HIST1H2BC_uc003ngl.2_Silent_p.E72E|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	histone cluster 1, H2bc	72					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1						CCGCGATGCGCTCAAATATGT	0.577												
HIST1H2BD	3017	broad.mit.edu	37	6	26158762	26158762	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:26158762A>G	uc003ngr.2	+	1	414	c.365A>G	c.(364-366)TAC>TGC	p.Y122C	HIST1H2BD_uc003ngs.2_Missense_Mutation_p.Y122C	NM_021063	NP_066407	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	122					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|pancreas(1)	2						GTCACCAAGTACACCAGTTCC	0.527												
HIST1H2BM	8342	broad.mit.edu	37	6	27783081	27783081	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:27783081G>A	uc003njo.2	+	1	260	c.260G>A	c.(259-261)CGC>CAC	p.R87H	HIST1H2AJ_uc003njn.1_5'Flank	NM_003521	NP_003512	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	87					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(1)	1						TACAACAAGCGCTCGACCATC	0.597												
HIST1H2AM	8336	broad.mit.edu	37	6	27860683	27860683	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:27860683C>G	uc003nkb.1	-	1	281	c.245G>C	c.(244-246)CGC>CCC	p.R82P	HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	82					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			ovary(2)	2						CTGCAAGTGGCGCGGGATGAT	0.607												
ZKSCAN3	80317	broad.mit.edu	37	6	28327511	28327511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:28327511C>T	uc003nle.3	+	2	364	c.148C>T	c.(148-150)CGA>TGA	p.R50*	ZKSCAN3_uc010jrc.2_Nonsense_Mutation_p.R50*|ZKSCAN3_uc003nlf.3_Intron	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	50	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						CGAGCGCTTCCGAGGCTTCCG	0.627												
GABBR1	2550	broad.mit.edu	37	6	29599309	29599309	+	Silent	SNP	C	C	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:29599309C>G	uc003nmt.3	-	3	489	c.153G>C	c.(151-153)GTG>GTC	p.V51V	GABBR1_uc003nmu.3_Silent_p.V51V|GABBR1_uc011dlr.1_5'UTR|GABBR1_uc011dls.1_Silent_p.V51V	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	51	Sushi 1.|Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	TGATAGCCTTCACCTGGTCCC	0.627												
HSPA1L	3305	broad.mit.edu	37	6	31779712	31779712	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:31779712A>G	uc003nxh.2	-	2	221	c.38T>C	c.(37-39)CTG>CCG	p.L13P	HSPA1L_uc010jte.2_Missense_Mutation_p.L13P	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	13					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						GGTGGTGCCCAGGTCGATGCC	0.552												
SLC44A4	80736	broad.mit.edu	37	6	31833766	31833766	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:31833766T>C	uc010jti.2	-	14	1437	c.1371A>G	c.(1369-1371)GTA>GTG	p.V457V		NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	457	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	CCAGGGCCAGTACCCAGTTAA	0.562												
EHMT2	10919	broad.mit.edu	37	6	31850545	31850545	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:31850545T>C	uc003nxz.1	-	25	3138	c.3128A>G	c.(3127-3129)TAC>TGC	p.Y1043C	EHMT2_uc003nxv.1_Missense_Mutation_p.Y82C|EHMT2_uc003nxw.1_Missense_Mutation_p.Y82C|EHMT2_uc003nxx.1_Missense_Mutation_p.Y241C|EHMT2_uc003nxy.1_Missense_Mutation_p.Y841C|EHMT2_uc011don.1_Missense_Mutation_p.Y1066C|EHMT2_uc003nya.1_Missense_Mutation_p.Y1009C	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1043	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GGCTGTTCGGTAGAGCTGTAG	0.642												
TNXB	7148	broad.mit.edu	37	6	32064801	32064801	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:32064801T>C	uc003nzl.2	-	3	1031	c.829A>G	c.(829-831)ATG>GTG	p.M277V		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	277	EGF-like 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CAGCTCCTCATGCCACAGTCG	0.667												
COL11A2	1302	broad.mit.edu	37	6	33132047	33132047	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:33132047G>A	uc003ocx.1	-	65	5295	c.5067C>T	c.(5065-5067)TGC>TGT	p.C1689C	COL11A2_uc010jul.1_Silent_p.C259C|COL11A2_uc003ocy.1_Silent_p.C1603C|COL11A2_uc003ocz.1_Silent_p.C1582C	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1689	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						TTCCCACCTGGCAGCCATCTC	0.627												
ZBTB22	9278	broad.mit.edu	37	6	33283797	33283797	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:33283797G>A	uc003oeb.2	-	2	1049	c.897C>T	c.(895-897)TAC>TAT	p.Y299Y	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.Y299Y	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTCGCTTCACGTATACCCAGT	0.597												
PHF1	5252	broad.mit.edu	37	6	33381045	33381045	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:33381045G>A	uc003oeh.2	+	5	646	c.410G>A	c.(409-411)CGC>CAC	p.R137H	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.R137H|PHF1_uc010jux.2_Intron	NM_024165	NP_077084	O43189	PHF1_HUMAN	PHD finger protein 1 isoform b	137	PHD-type 1.				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(999;0.0443)				TGGGTATGCCGCCAGTGTGTC	0.537												
C6orf89	221477	broad.mit.edu	37	6	36882373	36882373	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:36882373G>A	uc003omx.2	+	6	883	c.599G>A	c.(598-600)TGC>TAC	p.C200Y	C6orf89_uc003omv.2_Missense_Mutation_p.C94Y|C6orf89_uc003omw.2_Missense_Mutation_p.C207Y|C6orf89_uc011dtr.1_Missense_Mutation_p.C94Y|C6orf89_uc003omy.2_Missense_Mutation_p.C34Y	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	hypothetical protein LOC221477	200						integral to membrane				ovary(1)	1						CATTTTTTGTGCCAGTACCCT	0.488												
MDGA1	266727	broad.mit.edu	37	6	37626122	37626122	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:37626122C>T	uc003onu.1	-	3	1460	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	94	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						ACGCTCGATGCGCAGCGTCTC	0.657												
BTBD9	114781	broad.mit.edu	37	6	38142774	38142774	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:38142774C>T	uc003ooa.3	-	12	2402	c.1826G>A	c.(1825-1827)CGG>CAG	p.R609Q	BTBD9_uc003ony.3_Missense_Mutation_p.R541Q|BTBD9_uc010jwv.2_Missense_Mutation_p.R570Q|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.R609Q	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	609					cell adhesion						0						TTGGTGCTGCCGGTTGGGGGA	0.662												
DNAH8	1769	broad.mit.edu	37	6	38941550	38941550	+	Silent	SNP	T	T	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:38941550T>G	uc003ooe.1	+	82	12588	c.11988T>G	c.(11986-11988)ACT>ACG	p.T3996T	DNAH8_uc003oog.1_Silent_p.T445T	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						TATGGATAACTACGGAGCCCC	0.388												
LRFN2	57497	broad.mit.edu	37	6	40359880	40359880	+	Silent	SNP	G	G	A	rs144850104	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:40359880G>A	uc003oph.1	-	3	2637	c.2172C>T	c.(2170-2172)TTC>TTT	p.F724F		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	724	Cytoplasmic (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCCATGTCGAAGGAGTGGC	0.692												
CUL7	9820	broad.mit.edu	37	6	43013124	43013124	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:43013124C>T	uc003otq.2	-	15	3182	c.2879G>A	c.(2878-2880)CGC>CAC	p.R960H	CUL7_uc010jyg.2_Missense_Mutation_p.R239H|CUL7_uc011dvb.1_Missense_Mutation_p.R1044H|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	960	DOC.				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)			CCCCCGAATGCGCGTATCAAT	0.597												
CUL9	23113	broad.mit.edu	37	6	43153240	43153240	+	Silent	SNP	C	C	T	rs146200421		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:43153240C>T	uc003ouk.2	+	3	717	c.642C>T	c.(640-642)ATC>ATT	p.I214I	CUL9_uc003ouj.1_Silent_p.I214I|CUL9_uc003oul.2_Silent_p.I214I|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	214					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						AAGATGGCATCGAGCAGCACA	0.493												
CAPN11	11131	broad.mit.edu	37	6	44148736	44148736	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:44148736T>C	uc003owt.1	+	18	1907	c.1869_splice	c.e18+2	p.D623_splice	CAPN11_uc011dvn.1_Splice_Site_p.D277_splice	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11						proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCATGGATGTATCCTCCTGT	0.587												
RUNX2	860	broad.mit.edu	37	6	45390460	45390460	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:45390460G>A	uc011dvx.1	+	3	399	c.189G>A	c.(187-189)CAG>CAA	p.Q63Q	RUNX2_uc011dvy.1_Silent_p.Q63Q|RUNX2_uc003oxt.2_Silent_p.Q49Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	63	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						agcagcagcagcagcaacagc	0.279												
RCAN2	10231	broad.mit.edu	37	6	46216602	46216602	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:46216602T>C	uc003oyb.1	-	2	434	c.119A>G	c.(118-120)GAT>GGT	p.D40G	RCAN2_uc003oyc.1_Missense_Mutation_p.D86G|RCAN2_uc003oyd.1_Missense_Mutation_p.D86G	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1	40					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0						CACACAGTCATCATAAGTCCG	0.413												
TDRD6	221400	broad.mit.edu	37	6	46656549	46656549	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:46656549G>A	uc003oyj.2	+	1	684	c.684G>A	c.(682-684)TCG>TCA	p.S228S	TDRD6_uc010jze.2_Silent_p.S222S	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	228					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			CGGTTCTCTCGCGAGTCCCGC	0.647												
TDRD6	221400	broad.mit.edu	37	6	46659238	46659238	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:46659238A>C	uc003oyj.2	+	1	3373	c.3373A>C	c.(3373-3375)AAG>CAG	p.K1125Q	TDRD6_uc010jze.2_Missense_Mutation_p.K1119Q	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1125					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TAAGTCATTGAAGGCTTTAGT	0.368												
TFAP2D	83741	broad.mit.edu	37	6	50683050	50683050	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:50683050C>T	uc003paf.2	+	2	773	c.261C>T	c.(259-261)CCC>CCT	p.P87P	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	87							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					CCGTCACCCCCGACGCCTACT	0.587												
EFHC1	114327	broad.mit.edu	37	6	52344444	52344444	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:52344444G>A	uc003pap.3	+	9	1714	c.1499G>A	c.(1498-1500)GGT>GAT	p.G500D	EFHC1_uc011dwv.1_Missense_Mutation_p.G409D|EFHC1_uc011dww.1_Missense_Mutation_p.G481D	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	500	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					CCAGTGTTTGGTCACCGGTTC	0.438												
GSTA1	2938	broad.mit.edu	37	6	52657737	52657737	+	Silent	SNP	G	G	T	rs140052990	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:52657737G>T	uc003paz.2	-	6	575	c.463C>A	c.(463-465)CGG>AGG	p.R155R		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	155	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	ATGTCAGCCCGGCTCAGCTTG	0.517												
FAM135A	57579	broad.mit.edu	37	6	71235966	71235966	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:71235966G>A	uc003pfj.2	+	13	3312	c.3179G>A	c.(3178-3180)AGC>AAC	p.S1060N	FAM135A_uc003pfi.2_Missense_Mutation_p.S864N|FAM135A_uc003pfh.2_Missense_Mutation_p.S847N|FAM135A_uc003pfl.2_Missense_Mutation_p.S727N|FAM135A_uc003pfn.2_Missense_Mutation_p.S266N|FAM135A_uc003pfo.1_Missense_Mutation_p.S431N|FAM135A_uc010kan.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1060										central_nervous_system(1)	1						GTTAGCTACAGCAATGCACTT	0.398												
RIMS1	22999	broad.mit.edu	37	6	72892717	72892717	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:72892717A>G	uc003pga.2	+	6	1620	c.1543A>G	c.(1543-1545)AAG>GAG	p.K515E	RIMS1_uc011dyb.1_Missense_Mutation_p.K141E|RIMS1_uc003pgc.2_Missense_Mutation_p.K141E|RIMS1_uc003pgb.3_Missense_Mutation_p.K141E	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	515					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTCCCCGCCCAAGCCGCACCG	0.657												
KCNQ5	56479	broad.mit.edu	37	6	73902287	73902287	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:73902287G>A	uc003pgk.2	+	13	2057	c.1710_splice	c.e13-1	p.R570_splice	KCNQ5_uc011dyh.1_Splice_Site_p.R589_splice|KCNQ5_uc011dyi.1_Splice_Site_p.R580_splice|KCNQ5_uc010kat.2_Splice_Site_p.R561_splice|KCNQ5_uc011dyj.1_Splice_Site_p.R460_splice|KCNQ5_uc011dyk.1_Splice_Site_p.R320_splice	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like						protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTCTCTGATAGTGTTGATCAA	0.388												
FILIP1	27145	broad.mit.edu	37	6	76022914	76022914	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:76022914G>A	uc003pia.2	-	5	3007	c.2634C>T	c.(2632-2634)AAC>AAT	p.N878N	FILIP1_uc003phy.1_Silent_p.N878N|FILIP1_uc003phz.2_Silent_p.N779N|FILIP1_uc010kbe.2_Silent_p.N881N|FILIP1_uc003pib.1_Silent_p.N630N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	878										skin(3)|ovary(1)	4						TGGAGGGGCCGTTTTCCCTCT	0.522												
IRAK1BP1	134728	broad.mit.edu	37	6	79607974	79607974	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:79607974G>A	uc003pim.2	+	4	811	c.706G>A	c.(706-708)GCA>ACA	p.A236T	IRAK1BP1_uc010kbg.1_Intron|IRAK1BP1_uc003pin.2_Missense_Mutation_p.A149T	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1	236					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AATCAAAAGTGCAACAATACA	0.318												
LCA5	167691	broad.mit.edu	37	6	80223190	80223190	+	Silent	SNP	G	G	A	rs112915515		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:80223190G>A	uc003pix.2	-	3	894	c.459C>T	c.(457-459)GCC>GCT	p.A153A	LCA5_uc003piy.2_Silent_p.A153A|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Silent_p.A153A	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	153	Potential.				protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTCATTTTCGGCATCTTCAA	0.378												
KIAA0776	23376	broad.mit.edu	37	6	96997630	96997630	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:96997630G>A	uc003por.2	+	15	1821	c.1773G>A	c.(1771-1773)TCG>TCA	p.S591S	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	591					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		TCTTAGCTTCGGATTTAATGA	0.398												
COQ3	51805	broad.mit.edu	37	6	99819461	99819461	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:99819461G>A	uc003ppk.2	-	6	759	c.732C>T	c.(730-732)CCC>CCT	p.P244P		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	hexaprenyldihydroxybenzoate methyltransferase	244					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AAGAACCACCGGGCTAAAAGA	0.338												
SFRS18	25957	broad.mit.edu	37	6	99857155	99857155	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:99857155T>C	uc003ppo.3	-	6	795	c.567A>G	c.(565-567)CCA>CCG	p.P189P	SFRS18_uc003ppp.3_Silent_p.P189P|SFRS18_uc011eag.1_Silent_p.P189P|SFRS18_uc003ppr.2_Silent_p.P189P	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	189	Pro-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		CTGGAGGTCCTGGAGGTCCTG	0.498												
ARMC2	84071	broad.mit.edu	37	6	109215690	109215690	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:109215690C>T	uc003pss.3	+	6	866	c.692C>T	c.(691-693)GCG>GTG	p.A231V	ARMC2_uc011eao.1_Missense_Mutation_p.A66V	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	231							binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAGAGACATGCGAGGGCCTCA	0.483												
REV3L	5980	broad.mit.edu	37	6	111636522	111636522	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:111636522G>A	uc003puy.3	-	27	8737	c.8414C>T	c.(8413-8415)GCC>GTC	p.A2805V	REV3L_uc003pux.3_Missense_Mutation_p.A2727V|REV3L_uc003puz.3_Missense_Mutation_p.A2727V|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2805					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TACAGCTTCGGCAATTTCCTG	0.338								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
SLC35F1	222553	broad.mit.edu	37	6	118228994	118228994	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:118228994C>T	uc003pxx.3	+	1	306	c.105C>T	c.(103-105)GGC>GGT	p.G35G		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	35					transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)		AGGGCAGCGGCGGCGGCGGGA	0.622												
RNF146	81847	broad.mit.edu	37	6	127607921	127607921	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:127607921G>A	uc003qav.2	+	3	322	c.163G>A	c.(163-165)GTT>ATT	p.V55I	RNF146_uc003qat.2_Missense_Mutation_p.V54I|RNF146_uc003qau.2_Missense_Mutation_p.V54I|RNF146_uc003qaw.2_Missense_Mutation_p.V54I	NM_030963	NP_112225	Q9NTX7	RN146_HUMAN	ring finger protein 146	55	RING-type.				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CTGTAAGCACGTTTTCTGCTA	0.458												
LAMA2	3908	broad.mit.edu	37	6	129465215	129465215	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:129465215T>A	uc003qbn.2	+	5	914	c.809T>A	c.(808-810)GTC>GAC	p.V270D	LAMA2_uc003qbo.2_Missense_Mutation_p.V270D	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	270	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GACCCCATTGTCACCAGAAGA	0.378												
LAMA2	3908	broad.mit.edu	37	6	129649528	129649528	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:129649528C>A	uc003qbn.2	+	29	4387	c.4282C>A	c.(4282-4284)CTG>ATG	p.L1428M	LAMA2_uc003qbo.2_Missense_Mutation_p.L1428M	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1428	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACACAGCAGCCTGTGTGACCC	0.527												
ENPP1	5167	broad.mit.edu	37	6	132204888	132204888	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:132204888T>C	uc011ecf.1	+	22	2305	c.2285T>C	c.(2284-2286)ATA>ACA	p.I762T		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	762	Nuclease.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ACTACAAATATAGTGCCAATG	0.269												
SLC35D3	340146	broad.mit.edu	37	6	137245364	137245364	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:137245364G>T	uc003qhe.2	+	2	946	c.781G>T	c.(781-783)GTG>TTG	p.V261L		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	261	Helical; (Potential).				carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CGTGGGTGTGGTGAAGAGCAT	0.612												
TNFAIP3	7128	broad.mit.edu	37	6	138201245	138201245	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:138201245G>A	uc003qhr.2	+	8	2010	c.1944G>A	c.(1942-1944)GCG>GCA	p.A648A	TNFAIP3_uc003qhs.2_Silent_p.A648A	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	648	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GTCCCACAGCGTCCAGGTTCC	0.522			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma							
HIVEP2	3097	broad.mit.edu	37	6	143092422	143092422	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:143092422G>A	uc003qjd.2	-	5	4197	c.3454C>T	c.(3454-3456)CAC>TAC	p.H1152Y		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGGCCAGGTGCAGTGGCCCC	0.582												
HIVEP2	3097	broad.mit.edu	37	6	143093293	143093293	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:143093293C>T	uc003qjd.2	-	5	3326	c.2583G>A	c.(2581-2583)GGG>GGA	p.G861G		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	861					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGAGGGTTTCCCCCCACTTT	0.557												
PHACTR2	9749	broad.mit.edu	37	6	144086699	144086699	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:144086699G>A	uc003qjq.3	+	6	1093	c.963G>A	c.(961-963)AAG>AAA	p.K321K	PHACTR2_uc010khh.2_Silent_p.K241K|PHACTR2_uc010khi.2_Silent_p.K332K|PHACTR2_uc003qjr.3_Silent_p.K252K	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	321							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GCAAATTCAAGTCCATGGTCC	0.567												
UTRN	7402	broad.mit.edu	37	6	144780421	144780421	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:144780421G>A	uc003qkt.2	+	20	2730	c.2638G>A	c.(2638-2640)GAT>AAT	p.D880N	UTRN_uc010khq.1_Missense_Mutation_p.D880N	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	880	Interaction with SYNM.|Spectrin 6.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCGGGGCTTCGATAGCTTTCT	0.488												
SHPRH	257218	broad.mit.edu	37	6	146256106	146256106	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:146256106C>A	uc003qlf.2	-	13	3326	c.2927G>T	c.(2926-2928)AGG>ATG	p.R976M	SHPRH_uc003qld.2_Missense_Mutation_p.R976M|SHPRH_uc003qle.2_Missense_Mutation_p.R976M|SHPRH_uc003qlg.1_Missense_Mutation_p.R532M|SHPRH_uc003qlj.1_Missense_Mutation_p.R865M|SHPRH_uc003qlh.2_5'Flank	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	976					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGTCTGAGCCTCAGCAATGG	0.463												
IYD	389434	broad.mit.edu	37	6	150690214	150690214	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:150690214T>C	uc003qnu.1	+	1	187	c.47T>C	c.(46-48)GTT>GCT	p.V16A	IYD_uc003qnv.1_Missense_Mutation_p.V16A|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.V16A|IYD_uc010kik.1_5'UTR	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	iodotyrosine dehalogenase 1 isoform 2	16					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				ovary(2)	2		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGCATTTTGGTTGTGTGGATC	0.493												
AKAP12	9590	broad.mit.edu	37	6	151672182	151672182	+	Missense_Mutation	SNP	G	G	A	rs149275104		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:151672182G>A	uc011eep.1	+	4	2896	c.2656G>A	c.(2656-2658)GAG>AAG	p.E886K	AKAP12_uc003qoe.2_Missense_Mutation_p.E886K|AKAP12_uc003qof.2_Missense_Mutation_p.E788K|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.E781K	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	886					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGAGCTCAGCGAGAGTCAGGT	0.532												
ESR1	2099	broad.mit.edu	37	6	152201865	152201865	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:152201865G>A	uc003qom.3	+	5	1089	c.719G>A	c.(718-720)TGC>TAC	p.C240Y	ESR1_uc010kin.2_Missense_Mutation_p.C240Y|ESR1_uc010kio.2_Missense_Mutation_p.C242Y|ESR1_uc010kip.2_Missense_Mutation_p.C240Y|ESR1_uc003qon.3_Missense_Mutation_p.C240Y|ESR1_uc003qoo.3_Missense_Mutation_p.C240Y|ESR1_uc010kiq.2_5'UTR|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Missense_Mutation_p.C21Y|ESR1_uc011eex.1_Missense_Mutation_p.C21Y	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	240	NR C4-type.|Nuclear receptor.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TGCCAGGCCTGCCGGCTCCGT	0.537												
SYNE1	23345	broad.mit.edu	37	6	152826383	152826383	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:152826383G>C	uc010kiw.2	-	9	1333	c.731C>G	c.(730-732)ACT>AGT	p.T244S	SYNE1_uc003qot.3_Missense_Mutation_p.T251S|SYNE1_uc003qou.3_Missense_Mutation_p.T244S|SYNE1_uc010kjb.1_Missense_Mutation_p.T244S|SYNE1_uc003qpa.1_Missense_Mutation_p.T244S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	244	Actin-binding.|CH 2.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCGGCGATAGTGAAAGCATC	0.443										HNSCC(10;0.0054)		
ARID1B	57492	broad.mit.edu	37	6	157517409	157517409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:157517409C>T	uc003qqn.2	+	16	4071	c.3919C>T	c.(3919-3921)CAG>TAG	p.Q1307*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.Q1267*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.Q1254*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1312					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)		GGGCATGGGGCAGCGCCAGCA	0.498												
TULP4	56995	broad.mit.edu	37	6	158914686	158914686	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:158914686C>T	uc003qrf.2	+	10	3070	c.1713C>T	c.(1711-1713)CGC>CGT	p.R571R	TULP4_uc003qrg.2_Silent_p.R571R	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	571					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGCCCCTGCGCAAGCCCTCTG	0.647												
MAP3K4	4216	broad.mit.edu	37	6	161529828	161529828	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:161529828G>T	uc003qtn.2	+	22	4315	c.4173G>T	c.(4171-4173)TTG>TTT	p.L1391F	MAP3K4_uc010kkc.1_Missense_Mutation_p.L1387F|MAP3K4_uc003qto.2_Missense_Mutation_p.L1341F|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.L844F|MAP3K4_uc003qtp.2_Missense_Mutation_p.L327F|MAP3K4_uc003qtq.2_Missense_Mutation_p.L80F	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1391	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CAGACGAATTGAAAATATTCG	0.333												
PDE10A	10846	broad.mit.edu	37	6	165756927	165756927	+	Missense_Mutation	SNP	C	C	T	rs117826255	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:165756927C>T	uc003qun.2	-	20	2261	c.2020G>A	c.(2020-2022)GTT>ATT	p.V674I	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.V604I|PDE10A_uc003quo.2_Missense_Mutation_p.V684I	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	674					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AATTTTGTAACGGGCCACAGT	0.388												
RPS6KA2	6196	broad.mit.edu	37	6	166862227	166862227	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:166862227G>A	uc003qvb.1	-	14	1536	c.1317C>T	c.(1315-1317)ACC>ACT	p.T439T	RPS6KA2_uc011ego.1_Silent_p.T350T|RPS6KA2_uc010kkl.1_Silent_p.T350T|RPS6KA2_uc003qvc.1_Silent_p.T447T|RPS6KA2_uc003qvd.1_Silent_p.T464T	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	439	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CGGCATACTCGGTGTCTGTGG	0.582												
HEATR2	54919	broad.mit.edu	37	7	803553	803553	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:803553T>C	uc010krz.1	+	8	1745	c.1725T>C	c.(1723-1725)CTT>CTC	p.L575L	HEATR2_uc003siz.2_Silent_p.L443L|HEATR2_uc003sja.2_Silent_p.L33L	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	575							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGTCGCACCTTGACTGGACCG	0.657												
ADAP1	11033	broad.mit.edu	37	7	943803	943803	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:943803T>C	uc003sjo.3	-	6	784	c.608A>G	c.(607-609)AAC>AGC	p.N203S	ADAP1_uc003sjm.3_Missense_Mutation_p.N29S|ADAP1_uc011jvs.1_Missense_Mutation_p.N108S|ADAP1_uc003sjn.3_Missense_Mutation_p.N131S|ADAP1_uc010ksc.2_Missense_Mutation_p.N131S	NM_006869	NP_006860	O75689	ADAP1_HUMAN	centaurin, alpha 1	203	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			upper_aerodigestive_tract(1)	1						ACGGGTGCTGTTGTCCTTCAG	0.657												
NUDT1	4521	broad.mit.edu	37	7	2284269	2284269	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:2284269G>A	uc003slp.1	+	3	231	c.129G>A	c.(127-129)CTG>CTA	p.L43L	FTSJ2_uc003slk.2_5'Flank|FTSJ2_uc003sll.2_5'Flank|FTSJ2_uc003slm.2_5'Flank|FTSJ2_uc003sln.2_5'Flank|FTSJ2_uc003slo.2_5'Flank|NUDT1_uc003slq.1_Silent_p.L20L|NUDT1_uc003slr.1_Silent_p.L20L|NUDT1_uc003sls.1_Silent_p.L43L|NUDT1_uc003slt.1_Silent_p.L20L|NUDT1_uc003slu.1_Silent_p.L43L|NUDT1_uc003slv.1_Silent_p.L20L	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	61	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GAGTTCTCCTGGGCATGAAAA	0.602								Direct_reversal_of_damage|Modulation_of_nucleotide_pools				
CHST12	55501	broad.mit.edu	37	7	2472759	2472759	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:2472759G>A	uc003smc.2	+	2	620	c.485G>A	c.(484-486)CGG>CAG	p.R162Q	CHST12_uc003smd.2_Missense_Mutation_p.R162Q	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	162	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GTGGACGACCGGCACGGGGCC	0.667												
AMZ1	155185	broad.mit.edu	37	7	2752320	2752320	+	Silent	SNP	C	C	T	rs144828698		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:2752320C>T	uc003smr.1	+	7	1666	c.1305C>T	c.(1303-1305)GAC>GAT	p.D435D	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Silent_p.D184D	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	435							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GAGCCGTGGACGCCCTCGACC	0.687												
PAPOLB	56903	broad.mit.edu	37	7	4899601	4899601	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:4899601A>G	uc003snk.2	-	1	2025	c.1841T>C	c.(1840-1842)GTT>GCT	p.V614A	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	613					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TGAAGAAACAACTCTGGCGAC	0.438												
FBXL18	80028	broad.mit.edu	37	7	5530899	5530899	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:5530899C>T	uc003soo.2	-	4	2057	c.1963G>A	c.(1963-1965)GCC>ACC	p.A655T	FBXL18_uc003son.3_Missense_Mutation_p.A655T	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	655										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TTGCAGGTGGCGAGGGACTCC	0.642												
THSD7A	221981	broad.mit.edu	37	7	11676473	11676473	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:11676473G>A	uc003ssf.3	-	2	558	c.306C>T	c.(304-306)GCC>GCT	p.A102A		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	102	TSP type-1 1.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGGGTCTCTCGGCCTGCTTAC	0.512										HNSCC(18;0.044)		
DGKB	1607	broad.mit.edu	37	7	14378324	14378324	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:14378324T>C	uc003ssz.2	-	22	2128	c.1941A>G	c.(1939-1941)GTA>GTG	p.V647V	DGKB_uc011jxt.1_Silent_p.V628V|DGKB_uc003sta.2_Silent_p.V647V|DGKB_uc011jxu.1_Silent_p.V646V	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	647					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	AATCTATCTGTACTCCATCAC	0.333												
AHR	196	broad.mit.edu	37	7	17375352	17375352	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:17375352C>T	uc011jxz.1	+	9	1715	c.1102C>T	c.(1102-1104)CGC>TGC	p.R368C	AHR_uc003stt.3_RNA	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	368	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GTCTAATGCACGCCTGCTTTA	0.348												
FERD3L	222894	broad.mit.edu	37	7	19184667	19184667	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:19184667T>C	uc003suo.1	-	1	378	c.319A>G	c.(319-321)AAC>GAC	p.N107D	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	107	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						TCGCGGATGTTGGCGGCCTGG	0.483												
HOXA2	3199	broad.mit.edu	37	7	27141905	27141905	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:27141905C>T	uc003syh.2	-	1	490	c.215G>A	c.(214-216)CGC>CAC	p.R72H		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	72						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CGGCTTGGGGCGGCCGCCAGC	0.507												
SCRN1	9805	broad.mit.edu	37	7	29966126	29966126	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:29966126C>T	uc010kvp.2	-	6	1232	c.1028G>A	c.(1027-1029)CGC>CAC	p.R343H	SCRN1_uc011jzy.1_Missense_Mutation_p.R275H|SCRN1_uc003tak.2_Missense_Mutation_p.R343H|SCRN1_uc011jzz.1_Missense_Mutation_p.R343H|SCRN1_uc011kaa.1_Missense_Mutation_p.R363H|SCRN1_uc011jzw.1_Missense_Mutation_p.R210H|SCRN1_uc011jzx.1_Missense_Mutation_p.R166H	NM_001145515	NP_001138987	Q12765	SCRN1_HUMAN	secernin 1 isoform c	343					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			ovary(2)	2						CTCATGCCGGCGGTCTGGTTT	0.572												
BMPER	168667	broad.mit.edu	37	7	34118763	34118763	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:34118763T>C	uc011kap.1	+	12	1487	c.1373T>C	c.(1372-1374)CTG>CCG	p.L458P		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	458	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						CACATCGACCTGGATGGCTAC	0.652												
CDK13	8621	broad.mit.edu	37	7	40132557	40132557	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:40132557G>A	uc003thh.3	+	13	3691	c.3409G>A	c.(3409-3411)GCA>ACA	p.A1137T	CDK13_uc003thi.3_Intron|CDK13_uc003thj.2_Missense_Mutation_p.A188T|CDK13_uc003thk.2_Missense_Mutation_p.A70T	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1137					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						TGGAATTTTGGCAACAGGTGA	0.413												
HECW1	23072	broad.mit.edu	37	7	43508655	43508655	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:43508655G>A	uc003tid.1	+	16	3655	c.3050G>A	c.(3049-3051)CGG>CAG	p.R1017Q	HECW1_uc011kbi.1_Missense_Mutation_p.R983Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1017					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GCAGACACTCGGCTGGAACTG	0.552												
POLD2	5425	broad.mit.edu	37	7	44155855	44155855	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:44155855T>C	uc010kxz.2	-	9	1528	c.878A>G	c.(877-879)GAC>GGC	p.D293G	POLD2_uc003tke.3_Missense_Mutation_p.D293G|POLD2_uc010kya.2_Missense_Mutation_p.D293G|POLD2_uc003tkf.3_Missense_Mutation_p.D293G	NM_006230	NP_006221	P49005	DPOD2_HUMAN	DNA-directed DNA polymerase delta 2	293					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			ovary(2)	2						TGGCATCACGTCCACGGGCAC	0.672												
ZMIZ2	83637	broad.mit.edu	37	7	44804082	44804082	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:44804082G>A	uc003tlr.2	+	14	2048	c.1925G>A	c.(1924-1926)TGC>TAC	p.C642Y	ZMIZ2_uc003tlq.2_Missense_Mutation_p.C584Y|ZMIZ2_uc003tls.2_Missense_Mutation_p.C616Y|ZMIZ2_uc003tlt.2_Missense_Mutation_p.C265Y|ZMIZ2_uc010kyj.2_Missense_Mutation_p.C164Y|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	642	SP-RING-type.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						TGTCCTGTGTGCAAGTGAGTC	0.517												
C7orf42	55069	broad.mit.edu	37	7	66415976	66415976	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:66415976G>A	uc003tvk.2	+	5	898	c.634G>A	c.(634-636)GCC>ACC	p.A212T	C7orf42_uc010lah.2_Intron|C7orf42_uc003tvl.2_Missense_Mutation_p.A212T	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	hypothetical protein LOC55069	212						integral to membrane				ovary(1)	1						GTACAGCAACGCCACGCTCTG	0.507												
CLIP2	7461	broad.mit.edu	37	7	73753283	73753283	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:73753283C>T	uc003uam.2	+	3	954	c.627C>T	c.(625-627)AGC>AGT	p.S209S	CLIP2_uc003uan.2_Silent_p.S209S	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	209						microtubule associated complex				skin(3)	3						TCTCAGACAGCGGCTCTGTGA	0.682												
SRRM3	222183	broad.mit.edu	37	7	75896577	75896577	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:75896577C>T	uc010ldi.2	+	11	1041	c.832C>T	c.(832-834)CTG>TTG	p.L278L	SRRM3_uc011kgi.1_5'UTR	NM_001110199	NP_001103669			serine/arginine repetitive matrix 3												0						TAACCCCAGGCTGAGCCCCAA	0.692												
PCLO	27445	broad.mit.edu	37	7	82579273	82579273	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:82579273T>C	uc003uhx.2	-	6	10920	c.10631A>G	c.(10630-10632)GAT>GGT	p.D3544G	PCLO_uc003uhv.2_Missense_Mutation_p.D3544G|PCLO_uc010lec.2_Missense_Mutation_p.D509G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3475					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TACCTTGGCATCCACTCGTGC	0.438												
AKAP9	10142	broad.mit.edu	37	7	91632321	91632321	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:91632321T>C	uc003ulg.2	+	8	3315	c.3090T>C	c.(3088-3090)GGT>GGC	p.G1030G	AKAP9_uc003ule.2_Silent_p.G1042G|AKAP9_uc003ulf.2_Silent_p.G1030G|AKAP9_uc003uli.2_Silent_p.G655G	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1042					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAAGCAGGGGTGCTGAAGGAT	0.343			T	BRAF	papillary thyroid							
AKAP9	10142	broad.mit.edu	37	7	91737940	91737940	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:91737940A>G	uc003ulg.2	+	49	11904	c.11679A>G	c.(11677-11679)ATA>ATG	p.I3893M	AKAP9_uc003ulf.2_Missense_Mutation_p.I3885M|AKAP9_uc003uli.2_Missense_Mutation_p.I3516M|AKAP9_uc003ulj.2_Missense_Mutation_p.I1663M|AKAP9_uc003ull.2_Missense_Mutation_p.I789M	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3897					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGGAACTATACAGTCAGGTG	0.453			T	BRAF	papillary thyroid							
TRRAP	8295	broad.mit.edu	37	7	98609825	98609825	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:98609825C>A	uc003upp.2	+	72	11636	c.11427C>A	c.(11425-11427)TCC>TCA	p.S3809S	TRRAP_uc011kis.1_Silent_p.S3780S|TRRAP_uc003upr.2_Silent_p.S3515S|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3809	PI3K/PI4K.				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)			AACTGGTGTCCCTGGTTCAGA	0.597												
ZAN	7455	broad.mit.edu	37	7	100334562	100334562	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:100334562G>T	uc003uwj.2	+	5	549	c.384G>T	c.(382-384)TGG>TGT	p.W128C	ZAN_uc003uwk.2_Missense_Mutation_p.W128C|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	128	MAM 1.|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)			GGCTGTCTTGGGGCGCCCAGC	0.662												
MUC17	140453	broad.mit.edu	37	7	100676852	100676852	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:100676852G>A	uc003uxp.1	+	3	2208	c.2155G>A	c.(2155-2157)GTG>ATG	p.V719M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	719	Extracellular (Potential).|Ser-rich.|10.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACACCTGTGACCACTTC	0.493												
MUC17	140453	broad.mit.edu	37	7	100684616	100684616	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:100684616G>A	uc003uxp.1	+	3	9972	c.9919G>A	c.(9919-9921)GAC>AAC	p.D3307N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3307	Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGCTGACACCAGCAC	0.493												
RELN	5649	broad.mit.edu	37	7	103113350	103113350	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:103113350C>T	uc003vca.2	-	66	10452	c.10292G>A	c.(10291-10293)CGC>CAC	p.R3431H	RELN_uc010liz.2_Missense_Mutation_p.R3429H	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3431	Arg-rich (basic).				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTTGTTTGCGAGTGCTGTT	0.398												
LAMB4	22798	broad.mit.edu	37	7	107669592	107669592	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:107669592C>T	uc010ljo.1	-	33	5126	c.5042G>A	c.(5041-5043)AGC>AAC	p.S1681N	LAMB4_uc003vey.2_Missense_Mutation_p.S1681N|LAMB4_uc010ljp.1_Missense_Mutation_p.S650N	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1681	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						TCCTGTAGTGCTTGTCTTACG	0.363												
LAMB4	22798	broad.mit.edu	37	7	107671353	107671353	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:107671353T>C	uc010ljo.1	-	32	4974	c.4890A>G	c.(4888-4890)GGA>GGG	p.G1630G	LAMB4_uc003vey.2_Silent_p.G1630G|LAMB4_uc010ljp.1_Silent_p.G599G	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1630	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						GCAGGGAAAGTCCATCCTCCA	0.493												
WNT16	51384	broad.mit.edu	37	7	120979382	120979382	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:120979382G>A	uc003vjw.2	+	4	1338	c.1081G>A	c.(1081-1083)GTC>ATC	p.V361I	WNT16_uc003vjv.2_Missense_Mutation_p.V351I|WNT16_uc010lkl.2_Missense_Mutation_p.V145I	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	361					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			lung(2)|ovary(2)|large_intestine(1)	5	all_neural(327;0.117)					CATGACTGATGTCCACACTTG	0.527												
LMOD2	442721	broad.mit.edu	37	7	123302536	123302536	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:123302536C>T	uc003vky.2	+	2	1053	c.896C>T	c.(895-897)ACG>ATG	p.T299M		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	299						cytoskeleton	actin binding|tropomyosin binding				0						ACGGTGCTCACGGAGCTGCGT	0.542												
ARF5	381	broad.mit.edu	37	7	127229626	127229626	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:127229626G>T	uc003vmb.1	+	3	272	c.236G>T	c.(235-237)CGG>CTG	p.R79L	ARF5_uc010llb.1_Missense_Mutation_p.R79L|FSCN3_uc003vmc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	79					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1						CCTCTGTGGCGGCACTACTTC	0.512												
SND1	27044	broad.mit.edu	37	7	127342555	127342555	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:127342555T>C	uc003vmi.2	+	6	882	c.656T>C	c.(655-657)GTT>GCT	p.V219A		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	219	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						TACTACCTGGTTACAGTCATG	0.507												
LRRC4	64101	broad.mit.edu	37	7	127669623	127669623	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:127669623G>A	uc003vmk.2	-	2	1208	c.1071C>T	c.(1069-1071)GAC>GAT	p.D357D	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	357	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		CTCGAGGTGCGTCCATGATGA	0.602												
TNPO3	23534	broad.mit.edu	37	7	128630077	128630077	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:128630077T>C	uc003vol.1	-	11	1810	c.1436A>G	c.(1435-1437)TAC>TGC	p.Y479C	TNPO3_uc003vom.1_Missense_Mutation_p.Y413C|TNPO3_uc010lly.1_Missense_Mutation_p.Y513C|TNPO3_uc010llz.1_Missense_Mutation_p.Y479C	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	479					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						AATGCTGGTGTATCGCACAGC	0.483												
NRF1	4899	broad.mit.edu	37	7	129350308	129350308	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:129350308C>T	uc003voz.2	+	7	977	c.860C>T	c.(859-861)ACG>ATG	p.T287M	NRF1_uc003vpa.2_Missense_Mutation_p.T287M|NRF1_uc011kpa.1_Missense_Mutation_p.T126M|NRF1_uc003vpb.2_Missense_Mutation_p.T287M	NM_005011	NP_005002	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	287					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GATCAGCAAACGCAAACACAG	0.453												
KLF14	136259	broad.mit.edu	37	7	130418141	130418141	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:130418141G>A	uc003vqk.1	-	1	720	c.720C>T	c.(718-720)GAC>GAT	p.D240D		NM_138693	NP_619638	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	240	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(18;0.0435)					GGGCCAGCTCGTCGGAACGCG	0.642												
PLXNA4	91584	broad.mit.edu	37	7	131817885	131817885	+	Silent	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:131817885G>T	uc003vra.3	-	31	5741	c.5512C>A	c.(5512-5514)CGG>AGG	p.R1838R	PLXNA4_uc003vqz.3_Silent_p.R123R	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1838	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						ATGTGCATCCGGGACTGCTCA	0.517												
PLXNA4	91584	broad.mit.edu	37	7	131859624	131859624	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:131859624G>A	uc003vra.3	-	21	4159	c.3930C>T	c.(3928-3930)GCC>GCT	p.A1310A		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1310	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						ACGGAATCCCGGCTCCATCCA	0.582												
CNOT4	4850	broad.mit.edu	37	7	135079025	135079025	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:135079025G>A	uc003vsv.1	-	10	1579	c.1272C>T	c.(1270-1272)TCC>TCT	p.S424S	CNOT4_uc003vss.2_Silent_p.S421S|CNOT4_uc011kpz.1_Silent_p.S421S|CNOT4_uc003vst.2_Silent_p.S424S|CNOT4_uc003vsu.1_Silent_p.S421S|CNOT4_uc011kpy.1_Silent_p.S424S	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	424					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						GGTCTTGAACGGACAGTTCCT	0.493												
ZC3HAV1	56829	broad.mit.edu	37	7	138764823	138764823	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:138764823C>T	uc003vun.2	-	4	1252	c.864G>A	c.(862-864)GCG>GCA	p.A288A	ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Silent_p.A288A	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	288	Nuclear export signal (By similarity).				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						CGTCCACAGGCGCGTCCTCCA	0.587												
LUC7L2	51631	broad.mit.edu	37	7	139107037	139107037	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:139107037G>A	uc003vux.2	+	10	1504	c.1130G>A	c.(1129-1131)AGA>AAA	p.R377K	LUC7L2_uc011kqs.1_Missense_Mutation_p.R374K|LUC7L2_uc011kqt.1_Missense_Mutation_p.R443K|LUC7L2_uc003vuy.2_Missense_Mutation_p.R376K|LUC7L2_uc003vva.2_Missense_Mutation_p.R324K	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	377	Arg/Ser-rich.						enzyme binding|metal ion binding				0	Melanoma(164;0.242)					GCTAATGGCAGATCAGAAGAC	0.478												
KLRG2	346689	broad.mit.edu	37	7	139168278	139168278	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:139168278C>A	uc003vvb.2	-	1	180	c.111G>T	c.(109-111)AAG>AAT	p.K37N	KLRG2_uc010lnc.2_Missense_Mutation_p.K37N	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	37	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					GTTGTCGCACCTTCGCGGGCA	0.711												
PRSS37	136242	broad.mit.edu	37	7	141539138	141539138	+	Missense_Mutation	SNP	G	G	A	rs139899492		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:141539138G>A	uc003vws.1	-	2	548	c.176C>T	c.(175-177)CCA>CTA	p.P59L	PRSS37_uc011krk.1_Missense_Mutation_p.P46L|PRSS37_uc011krl.1_Missense_Mutation_p.P59L|PRSS37_uc003vwt.1_5'UTR	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	protease, serine, 37 precursor	59	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			skin(1)	1						AATACTCAACGGTAAATAGCA	0.398												
MGAM	8972	broad.mit.edu	37	7	141750608	141750608	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:141750608C>T	uc003vwy.2	+	24	2803	c.2749C>T	c.(2749-2751)CAC>TAC	p.H917Y		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	917	Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACAGTGAAACACAATGGTGT	0.378												
FAM131B	9715	broad.mit.edu	37	7	143054474	143054474	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:143054474G>A	uc003wct.2	-	5	2131	c.425C>T	c.(424-426)GCC>GTC	p.A142V	FAM131B_uc010loz.2_Missense_Mutation_p.A110V|FAM131B_uc003wcu.3_Missense_Mutation_p.A142V|FAM131B_uc010lpa.2_Missense_Mutation_p.A170V	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	142											0	Melanoma(164;0.205)					GGAAGACCAGGCCATGAGTGT	0.517												
ZNF777	27153	broad.mit.edu	37	7	149129440	149129440	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:149129440G>A	uc003wfv.2	-	6	2086	c.1923C>T	c.(1921-1923)TGC>TGT	p.C641C		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	641	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCTGCTGTCGCACTCGGGGC	0.652												
SSPO	23145	broad.mit.edu	37	7	149490507	149490507	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:149490507A>G	uc010lpk.2	+	40	5983	c.5983A>G	c.(5983-5985)ACC>GCC	p.T1995A		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1995	VWFC 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCACAACCTCACCGCACACTG	0.687												
NOM1	64434	broad.mit.edu	37	7	156762298	156762298	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:156762298C>T	uc003wmy.2	+	11	2499	c.2484C>T	c.(2482-2484)AAC>AAT	p.N828N		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	828					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGCTAAAGAACGCACAGGCCC	0.488												
DLGAP2	9228	broad.mit.edu	37	8	1497106	1497106	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:1497106C>T	uc003wpl.2	+	2	344	c.247C>T	c.(247-249)CGG>TGG	p.R83W	DLGAP2_uc003wpm.2_Missense_Mutation_p.R83W	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	162					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CACCTTCCCGCGGATGCACTA	0.697												
CSMD1	64478	broad.mit.edu	37	8	2832016	2832016	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:2832016G>A	uc011kwk.1	-	56	9090	c.8700C>T	c.(8698-8700)TGC>TGT	p.C2900C	CSMD1_uc011kwj.1_Silent_p.C2229C|CSMD1_uc010lrg.2_Silent_p.C910C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2900	Sushi 21.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTCTTCCTGGCACACTCTCG	0.542												
CSMD1	64478	broad.mit.edu	37	8	3253799	3253799	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:3253799A>T	uc011kwk.1	-	17	2903	c.2513T>A	c.(2512-2514)CTC>CAC	p.L838H	CSMD1_uc011kwj.1_Missense_Mutation_p.L230H|CSMD1_uc003wqe.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	838	Extracellular (Potential).|CUB 5.					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)		GGTGCTGATGAGGAACTGGGG	0.572												
MCPH1	79648	broad.mit.edu	37	8	6357399	6357399	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:6357399C>T	uc003wqi.2	+	12	2231	c.2163C>T	c.(2161-2163)CAC>CAT	p.H721H	ANGPT2_uc003wqj.3_3'UTR|ANGPT2_uc003wqk.3_3'UTR|ANGPT2_uc010lri.2_3'UTR	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	721	BRCT 2.					microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AATTGGGTCACTGGATTTCTG	0.423												
MFHAS1	9258	broad.mit.edu	37	8	8747799	8747799	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:8747799G>C	uc003wsj.1	-	1	3333	c.2770C>G	c.(2770-2772)CCT>GCT	p.P924A		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	924											0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACAACCACAGGAACTTTCCCT	0.502												
SOX7	83595	broad.mit.edu	37	8	10584134	10584134	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:10584134T>C	uc003wtf.2	-	2	360	c.281A>G	c.(280-282)TAC>TGC	p.Y94C	SOX7_uc011kwz.1_Missense_Mutation_p.Y146C|uc003wtg.1_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	94	HMG box.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		CTCGTCCACGTACGGCCTCTT	0.622												
MSR1	4481	broad.mit.edu	37	8	15967675	15967675	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:15967675A>G	uc003wwz.2	-	10	1473	c.1275T>C	c.(1273-1275)TCT>TCC	p.S425S	MSR1_uc010lsu.2_Silent_p.S443S|MSR1_uc003wxa.2_Silent_p.S362S	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	425	SRCR.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTCTTCAATAGATGATTCTC	0.368												
KIAA1967	57805	broad.mit.edu	37	8	22474994	22474994	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:22474994G>T	uc003xch.2	+	15	2044	c.1907G>T	c.(1906-1908)CGG>CTG	p.R636L	KIAA1967_uc003xci.2_Missense_Mutation_p.R636L|KIAA1967_uc003xcj.1_Missense_Mutation_p.R305L	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	636					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAAAAACCCCGGGGCGAGGCT	0.532												
RHOBTB2	23221	broad.mit.edu	37	8	22864481	22864481	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:22864481G>A	uc003xcq.2	+	5	1260	c.723G>A	c.(721-723)CCG>CCA	p.P241P	RHOBTB2_uc003xcp.2_Silent_p.P263P|RHOBTB2_uc011kzp.1_Silent_p.P248P|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	241					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CACCGCCCCCGATCATCGTGG	0.692												
LOXL2	4017	broad.mit.edu	37	8	23190934	23190934	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:23190934G>A	uc003xdh.1	-	5	1285	c.946C>T	c.(946-948)CGG>TGG	p.R316W	uc003xdj.2_5'Flank|uc003xdi.2_5'Flank	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	316					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TACGCTTTCCGGAATCTTGAG	0.617												
DOCK5	80005	broad.mit.edu	37	8	25258582	25258582	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:25258582G>A	uc003xeg.2	+	47	5063	c.4926G>A	c.(4924-4926)CTG>CTA	p.L1642L	PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1642						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTATAACACTGGTAAGCATGA	0.433												
KCTD9	54793	broad.mit.edu	37	8	25296837	25296837	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:25296837G>A	uc003xeo.2	-	6	615	c.457C>T	c.(457-459)CGT>TGT	p.R153C	PPP2R2A_uc003xek.2_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	153	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TGTCCATGACGCAAGTAGTTC	0.353												
ESCO2	157570	broad.mit.edu	37	8	27650255	27650255	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:27650255A>C	uc003xgg.2	+	9	1507	c.1424A>C	c.(1423-1425)AAA>ACA	p.K475T	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	475					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGTCCAAACAAAATAAAAACT	0.313									SC_Phocomelia_syndrome			
TEX15	56154	broad.mit.edu	37	8	30704079	30704079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:30704079C>A	uc003xil.2	-	1	2455	c.2455G>T	c.(2455-2457)GGA>TGA	p.G819*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	819										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGTCAAATCCTAGAATTTCT	0.393												
KCNU1	157855	broad.mit.edu	37	8	36675233	36675233	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:36675233G>A	uc010lvw.2	+	10	1148	c.1061G>A	c.(1060-1062)CGC>CAC	p.R354H	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	354	RCK N-terminal.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AATTTCCTCCGCGACAAGTCA	0.433												
KCNU1	157855	broad.mit.edu	37	8	36692338	36692338	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:36692338A>T	uc010lvw.2	+	12	1334	c.1247A>T	c.(1246-1248)AAT>ATT	p.N416I	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	416	RCK N-terminal.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATTATAGCCAATCCTTTGTGC	0.403												
KCNU1	157855	broad.mit.edu	37	8	36788639	36788639	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:36788639C>T	uc010lvw.2	+	25	2994	c.2907C>T	c.(2905-2907)CAC>CAT	p.H969H	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	969	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGTCCTTACACGAAACCATTT	0.418												
ADRB3	155	broad.mit.edu	37	8	37822792	37822792	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:37822792C>T	uc003xkr.1	-	1	1393	c.1196G>A	c.(1195-1197)CGG>CAG	p.R399Q		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	399	Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CCCGTCGAGCCGTTGGCAAAG	0.582												
DDHD2	23259	broad.mit.edu	37	8	38117583	38117583	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:38117583G>A	uc003xlb.2	+	17	2457	c.2080G>A	c.(2080-2082)GTC>ATC	p.V694I	DDHD2_uc003xlc.2_Missense_Mutation_p.V694I|DDHD2_uc003xld.2_Missense_Mutation_p.V313I	NM_015214	NP_056029	O94830	DDHD2_HUMAN	DDHD domain containing 2 isoform 1	694	DDHD.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			large_intestine(1)|ovary(1)	2	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGTATTGCTCGTCCTCAAAGA	0.294												
WHSC1L1	54904	broad.mit.edu	37	8	38194920	38194920	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:38194920G>A	uc003xli.2	-	4	1331	c.813C>T	c.(811-813)GGC>GGT	p.G271G	WHSC1L1_uc011lbm.1_Silent_p.G271G|WHSC1L1_uc010lwe.2_Silent_p.G271G|WHSC1L1_uc003xlj.2_Silent_p.G271G	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	271	PWWP 1.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ACACAAGATCGCCAACCTGAA	0.433			T	NUP98	AML							
HTRA4	203100	broad.mit.edu	37	8	38839286	38839286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:38839286G>T	uc003xmj.2	+	6	1229	c.1114G>T	c.(1114-1116)GGA>TGA	p.G372*		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	372					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCAGATGAAAGGTAAAGCAAG	0.373												
ADAM9	8754	broad.mit.edu	37	8	38934828	38934828	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:38934828G>A	uc003xmr.2	+	16	1857	c.1779G>A	c.(1777-1779)ACG>ACA	p.T593T	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	593	Cys-rich.|Extracellular (Potential).				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTATTCAAACGCCTAGTCGAG	0.433												
AGPAT6	137964	broad.mit.edu	37	8	41456803	41456803	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:41456803A>C	uc003xnz.2	+	2	1084	c.145A>C	c.(145-147)AGT>CGT	p.S49R		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	49					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity				0	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CTACATGAAAAGTCTGTTAAA	0.428												
NKX6-3	157848	broad.mit.edu	37	8	41504781	41504781	+	Missense_Mutation	SNP	C	C	T	rs143818219	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:41504781C>T	uc003xoa.2	-	1	98	c.94G>A	c.(94-96)GCT>ACT	p.A32T	NKX6-3_uc010lxa.1_Missense_Mutation_p.A32T	NM_152568	NP_689781	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	Error:Variant_position_missing_in_A6NJ46_after_alignment						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCAGCTGAGCGGCTGATGAG	0.647												
ANK1	286	broad.mit.edu	37	8	41561606	41561606	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:41561606C>T	uc003xok.2	-	20	2332	c.2248G>A	c.(2248-2250)GTG>ATG	p.V750M	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.V58M|ANK1_uc003xoi.2_Missense_Mutation_p.V750M|ANK1_uc003xoj.2_Missense_Mutation_p.V750M|ANK1_uc003xol.2_Missense_Mutation_p.V750M|ANK1_uc003xom.2_Missense_Mutation_p.V783M	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	750	ANK 22.|89 kDa domain.		V -> A.		axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGCAGAGTCACGATGTCTGTG	0.552												
PRKDC	5591	broad.mit.edu	37	8	48732013	48732013	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:48732013A>G	uc003xqi.2	-	68	9452	c.9395T>C	c.(9394-9396)GTA>GCA	p.V3132A	PRKDC_uc003xqj.2_Missense_Mutation_p.V3132A|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3132	KIP-binding.|FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAAAGCCTGTACAGACTGCAA	0.303								NHEJ				
PRKDC	5591	broad.mit.edu	37	8	48815346	48815346	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:48815346C>T	uc003xqi.2	-	27	3109	c.3052G>A	c.(3052-3054)GTG>ATG	p.V1018M	PRKDC_uc003xqj.2_Missense_Mutation_p.V1018M|PRKDC_uc011ldh.1_Missense_Mutation_p.V1018M	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	1018	HEAT 2.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACAGGGTCCACAATTCCATCC	0.378								NHEJ				
NPBWR1	2831	broad.mit.edu	37	8	53853263	53853263	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:53853263C>T	uc011ldu.1	+	1	796	c.796C>T	c.(796-798)CCC>TCC	p.P266S		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	266	Helical; Name=6; (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)				CTGCTGGACGCCCTACCACCT	0.657												
OPRK1	4986	broad.mit.edu	37	8	54141919	54141919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:54141919G>A	uc003xrh.1	-	3	1456	c.1081C>T	c.(1081-1083)CGA>TGA	p.R361*	OPRK1_uc003xri.1_Nonsense_Mutation_p.R361*|OPRK1_uc010lyc.1_Nonsense_Mutation_p.R272*	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	361	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ACTGTATTTCGGACTCTGCTA	0.483												
OPRK1	4986	broad.mit.edu	37	8	54142147	54142147	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:54142147C>T	uc003xrh.1	-	3	1228	c.853G>A	c.(853-855)GTC>ATC	p.V285I	OPRK1_uc003xri.1_Missense_Mutation_p.V285I|OPRK1_uc010lyc.1_Missense_Mutation_p.V196I	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	285	Helical; Name=6; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GTCCAGCAGACGACGAAGACT	0.577												
SOX17	64321	broad.mit.edu	37	8	55371807	55371807	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:55371807C>T	uc003xsb.3	+	2	701	c.497C>T	c.(496-498)GCG>GTG	p.A166V		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	166					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CAGGCGGCCGCGCTGGGCCCC	0.761												
CHD7	55636	broad.mit.edu	37	8	61765442	61765442	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:61765442G>A	uc003xue.2	+	31	6635	c.6158G>A	c.(6157-6159)CGA>CAA	p.R2053Q		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2053					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CGAGCCTCTCGAACTCTGTAC	0.552												
TRIM55	84675	broad.mit.edu	37	8	67047354	67047354	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:67047354G>A	uc003xvv.2	+	3	697	c.471G>A	c.(469-471)CAG>CAA	p.Q157Q	TRIM55_uc003xvu.2_Silent_p.Q157Q|TRIM55_uc003xvw.2_Silent_p.Q157Q|TRIM55_uc003xvx.2_Silent_p.Q157Q	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	157						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AAGACTGCCAGGTGGCTCCCC	0.572												
SULF1	23213	broad.mit.edu	37	8	70476323	70476323	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:70476323G>A	uc010lza.1	+	5	830	c.113G>A	c.(112-114)CGA>CAA	p.R38Q	SULF1_uc003xyd.2_Missense_Mutation_p.R38Q|SULF1_uc003xye.2_Missense_Mutation_p.R38Q|SULF1_uc003xyf.2_Missense_Mutation_p.R38Q|SULF1_uc003xyg.2_Missense_Mutation_p.R38Q	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	38					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGCAGGAACGAAAAAACATC	0.493												
SULF1	23213	broad.mit.edu	37	8	70488304	70488304	+	Missense_Mutation	SNP	G	G	T	rs149786573	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:70488304G>T	uc010lza.1	+	6	989	c.272G>T	c.(271-273)CGG>CTG	p.R91L	SULF1_uc003xyd.2_Missense_Mutation_p.R91L|SULF1_uc003xye.2_Missense_Mutation_p.R91L|SULF1_uc003xyf.2_Missense_Mutation_p.R91L|SULF1_uc003xyg.2_Missense_Mutation_p.R91L	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	91					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGCCCGTCACGGTCCTCCATG	0.542												
JPH1	56704	broad.mit.edu	37	8	75227517	75227517	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:75227517G>A	uc003yae.2	-	2	758	c.718C>T	c.(718-720)CGC>TGC	p.R240C	JPH1_uc003yaf.2_Missense_Mutation_p.R240C|JPH1_uc003yag.1_Missense_Mutation_p.R104C	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	240	Cytoplasmic (Potential).|Ser-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGTCGCTGCGGACAGAGCTG	0.557												
PMP2	5375	broad.mit.edu	37	8	82356736	82356736	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:82356736G>A	uc003ycb.1	-	3	445	c.347C>T	c.(346-348)GCG>GTG	p.A116V	PMP2_uc010lzv.1_RNA	NM_002677	NP_002668	P02689	MYP2_HUMAN	peripheral myelin protein 2	116						cytoplasm	cholesterol binding|fatty acid binding|transporter activity				0			Epithelial(68;0.186)			TACTCTTACCGCTACCATTTT	0.338												
ZFAND1	79752	broad.mit.edu	37	8	82627068	82627068	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:82627068G>A	uc003ycj.1	-	5	343	c.329C>T	c.(328-330)GCC>GTC	p.A110V	ZFAND1_uc010lzx.1_Missense_Mutation_p.A110V|ZFAND1_uc003yck.1_Missense_Mutation_p.A3V	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	110	AN1-type 2.						zinc ion binding			ovary(1)	1						TTTCTGAGTGGCAGCCATTCG	0.408												
SLC7A13	157724	broad.mit.edu	37	8	87229781	87229781	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:87229781G>A	uc003ydq.1	-	3	1195	c.1097C>T	c.(1096-1098)ACG>ATG	p.T366M	SLC7A13_uc003ydr.1_Missense_Mutation_p.T357M	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	366	Helical; Name=10; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						TAATGAACCCGTGAAAAAAAT	0.333												
NBN	4683	broad.mit.edu	37	8	90958413	90958413	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:90958413T>C	uc003yej.1	-	13	2135	c.2025A>G	c.(2023-2025)ATA>ATG	p.I675M	NBN_uc003yei.1_Missense_Mutation_p.I593M|NBN_uc011lgb.1_Missense_Mutation_p.I675M	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	675					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATCATCATTTATGCCAGATG	0.318								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome			
NECAB1	64168	broad.mit.edu	37	8	91929840	91929840	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:91929840C>A	uc011lgg.1	+	6	672	c.478C>A	c.(478-480)CAA>AAA	p.Q160K		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	160	Potential.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TACTGAGGAGCAAACCCGTCA	0.383												
CDH17	1015	broad.mit.edu	37	8	95164109	95164109	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:95164109C>A	uc003ygh.2	-	13	1908	c.1783G>T	c.(1783-1785)GGT>TGT	p.G595C	CDH17_uc011lgo.1_Missense_Mutation_p.G381C|CDH17_uc011lgp.1_Missense_Mutation_p.G595C	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	595	Cadherin 6.|Extracellular (Potential).					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATGTCCAGACCTTCTGGATCC	0.537												
VPS13B	157680	broad.mit.edu	37	8	100733153	100733153	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:100733153G>T	uc003yiv.2	+	39	7114	c.7003G>T	c.(7003-7005)GGG>TGG	p.G2335W	VPS13B_uc003yiw.2_Missense_Mutation_p.G2310W	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2335					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)			AGATTGCCCAGGGATGATGTT	0.358												
NCALD	83988	broad.mit.edu	37	8	102701588	102701588	+	Silent	SNP	C	C	T	rs145504685		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:102701588C>T	uc003yke.2	-	4	900	c.531G>A	c.(529-531)CCG>CCA	p.P177P	NCALD_uc003ykf.2_Silent_p.P177P|NCALD_uc003ykg.2_Silent_p.P177P|NCALD_uc003ykh.2_Silent_p.P177P|NCALD_uc003yki.2_Silent_p.P177P|NCALD_uc003ykj.2_Silent_p.P177P|NCALD_uc003ykk.2_Silent_p.P177P|NCALD_uc003ykl.2_Silent_p.P177P	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	177	EF-hand 4.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding				0	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			GCACAATGGACGGGTCGCTTT	0.577												
PKHD1L1	93035	broad.mit.edu	37	8	110478937	110478937	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:110478937G>A	uc003yne.2	+	50	8648	c.8544G>A	c.(8542-8544)GCG>GCA	p.A2848A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2848	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCGTTTAGCGTTCAACCAGC	0.418										HNSCC(38;0.096)		
SYBU	55638	broad.mit.edu	37	8	110587966	110587966	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:110587966T>C	uc003ynj.3	-	7	1324	c.1161A>G	c.(1159-1161)GAA>GAG	p.E387E	SYBU_uc003yni.3_Silent_p.E384E|SYBU_uc003ynk.3_Silent_p.E268E|SYBU_uc010mco.2_Silent_p.E386E|SYBU_uc003ynl.3_Silent_p.E386E|SYBU_uc010mcp.2_Silent_p.E387E|SYBU_uc010mcq.2_Silent_p.E387E|SYBU_uc003yno.3_Silent_p.E268E|SYBU_uc010mcr.2_Silent_p.E387E|SYBU_uc003ynm.3_Silent_p.E386E|SYBU_uc003ynn.3_Silent_p.E386E|SYBU_uc010mcs.2_Silent_p.E268E|SYBU_uc010mct.2_Silent_p.E387E|SYBU_uc010mcu.2_Silent_p.E386E|SYBU_uc003ynp.3_Silent_p.E319E|SYBU_uc010mcv.2_Silent_p.E387E|SYBU_uc003ynh.3_Silent_p.E181E|SYBU_uc011lhw.1_Silent_p.E257E	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	387	Sufficient for interaction with STX1A.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CTAGGCACAGTTCGTCCCTCA	0.483												
CSMD3	114788	broad.mit.edu	37	8	113314144	113314144	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:113314144G>T	uc003ynu.2	-	53	8477	c.8318C>A	c.(8317-8319)ACT>AAT	p.T2773N	CSMD3_uc003yns.2_Missense_Mutation_p.T1975N|CSMD3_uc003ynt.2_Missense_Mutation_p.T2733N|CSMD3_uc011lhx.1_Missense_Mutation_p.T2604N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2773	Extracellular (Potential).|Sushi 17.					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						TGAAGTTTGAGTTCCAATCTT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
RAD21	5885	broad.mit.edu	37	8	117868981	117868981	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:117868981C>T	uc003yod.2	-	7	1006	c.718G>A	c.(718-720)GGT>AGT	p.G240S		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	240					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TCAAAGATACCGCCATCATTA	0.403												
SNTB1	6641	broad.mit.edu	37	8	121705999	121705999	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:121705999G>A	uc010mdg.2	-	2	947	c.721C>T	c.(721-723)CGG>TGG	p.R241W	SNTB1_uc003ype.2_Missense_Mutation_p.R241W	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	241	PH 1.				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)			ATGCTTTTCCGGTCTCTGTGG	0.557												
ZHX2	22882	broad.mit.edu	37	8	123966246	123966246	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:123966246A>G	uc003ypk.1	+	3	3063	c.2496A>G	c.(2494-2496)GCA>GCG	p.A832A		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	832						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)			GCGTCCCTGCAGAGGCTGGCC	0.557												
FER1L6	654463	broad.mit.edu	37	8	125083872	125083872	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:125083872G>A	uc003yqw.2	+	31	4298	c.4092G>A	c.(4090-4092)GCG>GCA	p.A1364A	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1364	C2 5.|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)			ACATTGTCGCGGTGAGCCATT	0.358												
TRMT12	55039	broad.mit.edu	37	8	125463683	125463683	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:125463683G>A	uc003yra.3	+	1	636	c.515G>A	c.(514-516)CGT>CAT	p.R172H		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	homolog of yeast tRNA methyltransferase 12	172					tRNA processing		methyltransferase activity			upper_aerodigestive_tract(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCGTCCAGCGTTTGGCAAAA	0.542												
KIAA0196	9897	broad.mit.edu	37	8	126087249	126087249	+	Silent	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:126087249G>C	uc003yrt.2	-	8	1298	c.969C>G	c.(967-969)GTC>GTG	p.V323V	KIAA0196_uc011lir.1_Silent_p.V175V	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	323					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCTGTTCTCTGACATTTGAAA	0.383												
ADCY8	114	broad.mit.edu	37	8	132002689	132002689	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:132002689G>A	uc003ytd.3	-	2	1316	c.1060C>T	c.(1060-1062)CGG>TGG	p.R354W	ADCY8_uc010mds.2_Missense_Mutation_p.R354W	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	354	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACACACCTCCGAGTCTCCAGG	0.537										HNSCC(32;0.087)		
KCNQ3	3786	broad.mit.edu	37	8	133150209	133150209	+	Silent	SNP	G	G	A	rs138900075		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:133150209G>A	uc003ytj.2	-	12	1848	c.1623C>T	c.(1621-1623)TAC>TAT	p.Y541Y	KCNQ3_uc010mdt.2_Silent_p.Y541Y	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	541					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTTCACATCGTAAGGCCTCA	0.458												
TG	7038	broad.mit.edu	37	8	133920431	133920431	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:133920431G>A	uc003ytw.2	+	18	3889	c.3848G>A	c.(3847-3849)CGG>CAG	p.R1283Q	TG_uc010mdw.2_Missense_Mutation_p.R42Q	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1283					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGCCTGCAGGGCCCCAGCTG	0.542												
EIF2C2	27161	broad.mit.edu	37	8	141567270	141567270	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:141567270C>A	uc003yvn.2	-	8	984	c.944G>T	c.(943-945)AGG>ATG	p.R315M	EIF2C2_uc010men.2_Missense_Mutation_p.R238M|EIF2C2_uc010meo.2_Missense_Mutation_p.R315M	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	315	PAZ.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CAACTTGTGCCTGTCCTTGAA	0.592												
FLJ43860	389690	broad.mit.edu	37	8	142450394	142450394	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:142450394C>T	uc003ywi.2	-	26	3235	c.3154G>A	c.(3154-3156)GAC>AAC	p.D1052N	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1052							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGCTGGGGTCGTGGAGGCCT	0.632												
BAI1	575	broad.mit.edu	37	8	143570761	143570761	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:143570761C>T	uc003ywm.2	+	15	2776	c.2593C>T	c.(2593-2595)CGC>TGC	p.R865C		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	865	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.R865C(1)		lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCGCTCCCTGCGCACACCCTT	0.587												
LYPD2	137797	broad.mit.edu	37	8	143832520	143832520	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:143832520A>G	uc003ywz.2	-	2	210	c.127T>C	c.(127-129)TGC>CGC	p.C43R		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2 precursor	43	UPAR/Ly6.					anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTGGTGGTGCAGGTGGCGATG	0.657												
ZC3H3	23144	broad.mit.edu	37	8	144590005	144590005	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144590005A>G	uc003yyd.2	-	4	1655	c.1626T>C	c.(1624-1626)ATT>ATC	p.I542I		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	542					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TCTTCTTGACAATGCGGTAGC	0.652												
ZC3H3	23144	broad.mit.edu	37	8	144620682	144620682	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144620682C>T	uc003yyd.2	-	2	884	c.855G>A	c.(853-855)CCG>CCA	p.P285P		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	285					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GTCCTGAGGCCGGTCTGGCGG	0.622												
FAM83H	286077	broad.mit.edu	37	8	144808238	144808238	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144808238G>A	uc003yzk.2	-	5	3462	c.3393C>T	c.(3391-3393)CGC>CGT	p.R1131R	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	1131					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCTGTACACGCGCTTCTCCT	0.701												
FAM83H	286077	broad.mit.edu	37	8	144812611	144812611	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144812611C>T	uc003yzk.2	-	2	211	c.142G>A	c.(142-144)GCT>ACT	p.A48T	FAM83H_uc010mfk.1_5'Flank	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	48					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTCGGTAGCGAGGAAGCGG	0.637												
SCRIB	23513	broad.mit.edu	37	8	144891828	144891828	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144891828C>T	uc003yzp.1	-	14	1598	c.1591G>A	c.(1591-1593)GTC>ATC	p.V531I	SCRIB_uc003yzo.1_Missense_Mutation_p.V531I	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	531	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCCTCAGAGACTGTGCTGGCA	0.672												
PLEC	5339	broad.mit.edu	37	8	144995247	144995247	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144995247G>A	uc003zaf.1	-	32	9323	c.9153C>T	c.(9151-9153)TTC>TTT	p.F3051F	PLEC_uc003zab.1_Silent_p.F2914F|PLEC_uc003zac.1_Silent_p.F2918F|PLEC_uc003zad.2_Silent_p.F2914F|PLEC_uc003zae.1_Silent_p.F2882F|PLEC_uc003zag.1_Silent_p.F2892F|PLEC_uc003zah.2_Silent_p.F2900F|PLEC_uc003zaj.2_Silent_p.F2941F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3051	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						GGAACTTGCCGAACGGCGCAG	0.622												
PLEC	5339	broad.mit.edu	37	8	144997573	144997573	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144997573T>C	uc003zaf.1	-	31	7105	c.6935A>G	c.(6934-6936)GAG>GGG	p.E2312G	PLEC_uc003zab.1_Missense_Mutation_p.E2175G|PLEC_uc003zac.1_Missense_Mutation_p.E2179G|PLEC_uc003zad.2_Missense_Mutation_p.E2175G|PLEC_uc003zae.1_Missense_Mutation_p.E2143G|PLEC_uc003zag.1_Missense_Mutation_p.E2153G|PLEC_uc003zah.2_Missense_Mutation_p.E2161G|PLEC_uc003zaj.2_Missense_Mutation_p.E2202G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2312	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CAGCGTCTGCTCGGCGAATTT	0.667												
SPATC1	375686	broad.mit.edu	37	8	145095835	145095835	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:145095835T>C	uc011lkw.1	+	3	1235	c.1133T>C	c.(1132-1134)GTC>GCC	p.V378A	SPATC1_uc011lkx.1_Missense_Mutation_p.V378A	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	378										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AACCTGCCTGTCCCCCACTGT	0.622												
FBXL6	26233	broad.mit.edu	37	8	145580025	145580025	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:145580025C>T	uc003zcb.2	-	7	1185	c.1160G>A	c.(1159-1161)CGC>CAC	p.R387H	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.R114H|FBXL6_uc003zca.2_Missense_Mutation_p.R381H|FBXL6_uc010mfx.2_Missense_Mutation_p.R148H|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	387	LRR 7.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			ATCCAGTAAGCGCAGGTTGGG	0.652												
CPSF1	29894	broad.mit.edu	37	8	145619907	145619907	+	Silent	SNP	G	G	A	rs140031041	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:145619907G>A	uc003zcj.2	-	31	3594	c.3519C>T	c.(3517-3519)ACC>ACT	p.T1173T	MIR939_hsa-mir-939|MI0005761_5'Flank	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	1173					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCACAGGGCGGTCACGGGCC	0.632												
MFSD3	113655	broad.mit.edu	37	8	145736246	145736246	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:145736246G>A	uc003zdi.1	+	4	1190	c.1025G>A	c.(1024-1026)GGG>GAG	p.G342E		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	342	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCTTCACTGGGATGATGCGC	0.637												
ZNF517	340385	broad.mit.edu	37	8	146033518	146033518	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:146033518G>A	uc003zed.1	+	5	1324	c.1217G>A	c.(1216-1218)GGT>GAT	p.G406D	ZNF517_uc010mgd.1_Missense_Mutation_p.G312D|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Missense_Mutation_p.G312D|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	406	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				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)			AAGGCCTTCGGTCGCAAGTCC	0.647												
FOXD4	2298	broad.mit.edu	37	9	118118	118118	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:118118A>G	uc003zfz.2	-	1	300	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	1					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TGGCAAGTTCATGGCGGAGCA	0.637												
DOCK8	81704	broad.mit.edu	37	9	312086	312086	+	Missense_Mutation	SNP	G	G	T	rs146903530		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:312086G>T	uc003zgf.2	+	6	773	c.661G>T	c.(661-663)GAC>TAC	p.D221Y	DOCK8_uc011lls.1_Missense_Mutation_p.D221Y|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.D153Y|DOCK8_uc010mgt.2_Missense_Mutation_p.D153Y|DOCK8_uc003zgg.2_Missense_Mutation_p.D153Y|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	221					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGTGCCGAGGACTTTGAGAA	0.592												
DMRT3	58524	broad.mit.edu	37	9	977277	977277	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:977277C>T	uc003zgw.1	+	1	314	c.276C>T	c.(274-276)CGC>CGT	p.R92R		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	92					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ACTCGCTGCGCGCTCTGCCAG	0.388												
SMARCA2	6595	broad.mit.edu	37	9	2088615	2088615	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:2088615T>C	uc003zhc.2	+	19	2982	c.2883_splice	c.e19+2	p.K961_splice	SMARCA2_uc003zhd.2_Splice_Site_p.K961_splice|SMARCA2_uc010mha.2_Splice_Site_p.K894_splice	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated						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)		CCCGAAAAAGTATGTTGCACA	0.368												
PPAPDC2	403313	broad.mit.edu	37	9	4662417	4662417	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:4662417C>T	uc003zin.2	+	1	120	c.42C>T	c.(40-42)GGC>GGT	p.G14G	C9orf68_uc003zik.2_Intron|C9orf68_uc003zil.2_Intron|C9orf68_uc010mhj.2_Intron|C9orf68_uc011lly.1_Intron|C9orf68_uc011llz.1_Intron|C9orf68_uc003zim.2_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain	14						integral to membrane	hydrolase activity				0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GGCCGCTGGGCGTCTCCGCTT	0.726											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GLDC	2731	broad.mit.edu	37	9	6554674	6554674	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:6554674G>A	uc003zkc.2	-	19	2503	c.2310C>T	c.(2308-2310)ATC>ATT	p.I770I		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	770					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTTACACTCCGATGGGCCCCA	0.527												
NFIB	4781	broad.mit.edu	37	9	14307161	14307161	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:14307161A>C	uc003zle.2	-	2	824	c.389T>G	c.(388-390)CTG>CGG	p.L130R	NFIB_uc003zlf.2_Missense_Mutation_p.L130R|NFIB_uc011lmo.1_Missense_Mutation_p.L130R	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	130	CTF/NF-I.				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GACTAGATCCAGACGCCAGAC	0.517			T	MYB|HGMA2	adenoid cystic carcinoma|lipoma							
C9orf93	203238	broad.mit.edu	37	9	15779035	15779035	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:15779035C>T	uc003zmd.2	+	20	3283	c.2968C>T	c.(2968-2970)CGC>TGC	p.R990C	C9orf93_uc003zme.2_Missense_Mutation_p.R905C|C9orf93_uc011lmu.1_Missense_Mutation_p.R998C|C9orf93_uc003zmf.1_Missense_Mutation_p.R298C	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	990	Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)		AGAAGTGGAGCGCCGCTCACT	0.408												
ADAMTSL1	92949	broad.mit.edu	37	9	18817125	18817125	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:18817125C>T	uc003zne.3	+	21	3951	c.3824C>T	c.(3823-3825)ACG>ATG	p.T1275M		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	1275						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CTAGTGAAAACGTCACGAATG	0.448												
DENND4C	55667	broad.mit.edu	37	9	19316781	19316781	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:19316781T>C	uc003znq.2	+	8	1076	c.1043T>C	c.(1042-1044)ATC>ACC	p.I348T	DENND4C_uc011lnc.1_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	348	dDENN.					integral to membrane				ovary(1)|skin(1)	2						CTCAGACCAATCACAGAGGCT	0.388												
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:21974679G>A	uc003zpk.2	-	1	360	c.148C>T	c.(148-150)CAG>TAG	p.Q50*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.Q50*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	50	ANK 2.		Q -> R (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(25)|p.Q50*(5)|p.Q50R(1)|p.V28_V51del(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTACCCACCTGGATCGGCCTC	0.682		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
TAF1L	138474	broad.mit.edu	37	9	32633058	32633058	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:32633058C>T	uc003zrg.1	-	1	2610	c.2520G>A	c.(2518-2520)CGG>CGA	p.R840R	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	840					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCTCCGTGGCCGATCTTTAC	0.448												
NUDT2	318	broad.mit.edu	37	9	34343338	34343338	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:34343338G>A	uc003zub.2	+	5	702	c.344G>A	c.(343-345)CGC>CAC	p.R115H	NUDT2_uc003zuc.2_Missense_Mutation_p.R115H|NUDT2_uc003zud.2_Missense_Mutation_p.R115H	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	115	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CAAGCCTACCGCTGGCTGGGG	0.562												
KIAA1161	57462	broad.mit.edu	37	9	34371158	34371158	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:34371158C>T	uc003zue.3	-	3	1951	c.1784G>A	c.(1783-1785)CGC>CAC	p.R595H		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	595	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGCGTCGTAGCGCCAGGGCGG	0.682												
VCP	7415	broad.mit.edu	37	9	35059577	35059577	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:35059577A>G	uc003zvy.2	-	14	2306	c.1917T>C	c.(1915-1917)CTT>CTC	p.L639L	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Silent_p.L308L|VCP_uc010mki.1_Silent_p.L594L	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	639					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)			TGAGCTGATCAAGACGGCCAG	0.512												
STOML2	30968	broad.mit.edu	37	9	35102160	35102160	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:35102160C>T	uc003zwi.2	-	3	278	c.215G>A	c.(214-216)CGG>CAG	p.R72Q	STOML2_uc003zwh.2_5'UTR|STOML2_uc003zwj.2_5'UTR|STOML2_uc011lou.1_Missense_Mutation_p.R72Q|STOML2_uc003zwk.2_Missense_Mutation_p.R21Q	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	72						cytoskeleton	receptor binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATATCGGATCCGGTCTAACAC	0.532												
CD72	971	broad.mit.edu	37	9	35616088	35616088	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:35616088C>T	uc003zxb.2	-	5	664	c.540G>A	c.(538-540)GCG>GCA	p.A180A	CD72_uc003zxc.1_5'UTR|CD72_uc010mkt.1_5'UTR|CD72_uc010mku.2_Silent_p.A180A|CD72_uc010mkv.2_3'UTR|CD72_uc010mkw.1_RNA	NM_001782	NP_001773	P21854	CD72_HUMAN	CD72 molecule	180	Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCTTCGGCCGCCTGATGAG	0.597												
TLN1	7094	broad.mit.edu	37	9	35719120	35719120	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:35719120G>A	uc003zxt.2	-	16	2201	c.1847C>T	c.(1846-1848)GCG>GTG	p.A616V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	616					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACTGCTCCCGCAAGGCCCTT	0.637												
GNE	10020	broad.mit.edu	37	9	36246258	36246258	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:36246258C>T	uc010mlh.2	-	3	601	c.386G>A	c.(385-387)CGA>CAA	p.R129Q	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.R129Q|GNE_uc011lpl.1_Missense_Mutation_p.R70Q|GNE_uc010mli.2_Missense_Mutation_p.R160Q|GNE_uc010mlj.2_Missense_Mutation_p.R124Q	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	129	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			GTGAAGGATTCGGATGTTCAT	0.488												
SHB	6461	broad.mit.edu	37	9	38016116	38016116	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:38016116C>T	uc004aax.2	-	2	1298	c.730G>A	c.(730-732)GAT>AAT	p.D244N		NM_003028	NP_003019	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein	244	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|skin(1)	3		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GAGTAGTCATCGGCTATGGTC	0.512												
PGM5	5239	broad.mit.edu	37	9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:70993121C>T	uc004agr.2	+	2	497	c.268C>T	c.(268-270)CGA>TGA	p.R90*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						TTAGATTGGACGACTGATTAT	0.443												
APBA1	320	broad.mit.edu	37	9	72131493	72131493	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:72131493C>T	uc004ahh.2	-	2	910	c.634G>A	c.(634-636)GGC>AGC	p.G212S		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	212					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						AGCCGCAGGCCGTCGCGTGCG	0.716												
APBA1	320	broad.mit.edu	37	9	72131519	72131519	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:72131519T>A	uc004ahh.2	-	2	884	c.608A>T	c.(607-609)GAC>GTC	p.D203V		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	203					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						CTCGGGCGCGTCCCCTATCTC	0.721												
FOXB2	442425	broad.mit.edu	37	9	79635658	79635658	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:79635658C>T	uc004ako.1	+	1	1088	c.1088C>T	c.(1087-1089)CCG>CTG	p.P363L		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	363					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CCTGCCATGCCGGTGCCCATC	0.677												
CEP78	84131	broad.mit.edu	37	9	80858424	80858424	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:80858424G>A	uc004akx.2	+	5	926	c.650G>A	c.(649-651)CGC>CAC	p.R217H	CEP78_uc004aky.3_Missense_Mutation_p.R217H|CEP78_uc010mpp.2_Missense_Mutation_p.R217H|CEP78_uc011lsp.1_Missense_Mutation_p.R130H	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa isoform b	217					G2/M transition of mitotic cell cycle	centrosome|cytosol				ovary(1)	1						GAGAGTCTTCGCTATAGGAGA	0.408												
PSAT1	29968	broad.mit.edu	37	9	80942970	80942970	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:80942970T>C	uc004ala.2	+	8	941	c.873T>C	c.(871-873)TGT>TGC	p.C291C	PSAT1_uc004alb.2_Intron	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	291					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TTTTCAGTTGTCCAGTGGAGC	0.348												
KIF27	55582	broad.mit.edu	37	9	86495292	86495292	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:86495292G>T	uc004ana.2	-	11	2707	c.2563C>A	c.(2563-2565)CTA>ATA	p.L855I	KIF27_uc010mpw.2_Intron|KIF27_uc010mpx.2_Missense_Mutation_p.L855I	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	855	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TTTCTTTGTAGCTGTATCTTT	0.358												
KIF27	55582	broad.mit.edu	37	9	86506302	86506302	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:86506302C>T	uc004ana.2	-	6	1861	c.1717G>A	c.(1717-1719)GCC>ACC	p.A573T	KIF27_uc010mpw.2_Missense_Mutation_p.A573T|KIF27_uc010mpx.2_Missense_Mutation_p.A573T	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	573					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						GGGATCCTGGCATCTGGCCCA	0.398												
C9orf79	286234	broad.mit.edu	37	9	90499521	90499521	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:90499521T>C	uc004app.3	+	3	415	c.380T>C	c.(379-381)CTG>CCG	p.L127P	C9orf79_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	127						integral to membrane				ovary(3)	3						AGAATCCTCCTGAGGGAGCTG	0.572												
ROR2	4920	broad.mit.edu	37	9	94495678	94495678	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:94495678G>A	uc004arj.1	-	6	862	c.663C>T	c.(661-663)GAC>GAT	p.D221D	ROR2_uc004ari.1_Silent_p.D81D|ROR2_uc004ark.2_Silent_p.D221D	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						GTGAGCACTGGTCCGACAGGT	0.647												
WNK2	65268	broad.mit.edu	37	9	95947742	95947742	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:95947742G>C	uc004ati.1	+	1	531	c.531G>C	c.(529-531)GAG>GAC	p.E177D	WNK2_uc011lud.1_Missense_Mutation_p.E177D|WNK2_uc004atj.2_Missense_Mutation_p.E177D|WNK2_uc010mrc.1_Missense_Mutation_p.E177D	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	177					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						AAGAGGAGGAGGACGACGAGG	0.692												
WNK2	65268	broad.mit.edu	37	9	96055229	96055229	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:96055229G>A	uc004ati.1	+	23	5593	c.5593G>A	c.(5593-5595)GTG>ATG	p.V1865M	WNK2_uc011lud.1_Missense_Mutation_p.V1828M|WNK2_uc004atj.2_Missense_Mutation_p.V1828M|WNK2_uc004atk.2_Missense_Mutation_p.V1465M|WNK2_uc004atl.1_Missense_Mutation_p.V422M	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1865					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						GTCCCTGCCCGTGAGTGGCAG	0.716												
FAM120A	23196	broad.mit.edu	37	9	96291730	96291730	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:96291730G>A	uc004atw.2	+	9	1627	c.1602G>A	c.(1600-1602)TCG>TCA	p.S534S	FAM120A_uc004atv.2_Silent_p.S534S|FAM120A_uc004atx.2_Silent_p.S316S|FAM120A_uc004aty.2_Silent_p.S315S|FAM120A_uc004atz.2_Silent_p.S183S|FAM120A_uc010mrf.1_RNA|FAM120A_uc010mrg.2_5'Flank	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	534						cytoplasm|plasma membrane	RNA binding				0						GCCTCCTGTCGATGCCCACCA	0.622												
ZNF169	169841	broad.mit.edu	37	9	97063084	97063084	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:97063084T>C	uc004aum.1	+	5	1349	c.1244T>C	c.(1243-1245)GTC>GCC	p.V415A		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	415	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				CGCCAAAAGGTCACTCTCATC	0.562												
CORO2A	7464	broad.mit.edu	37	9	100897159	100897159	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:100897159G>A	uc004ayl.2	-	4	663	c.397C>T	c.(397-399)CGC>TGC	p.R133C	CORO2A_uc004aym.2_Missense_Mutation_p.R133C	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	133	WD 2.				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				CCTACTCTGCGCGCGTGGCCC	0.557												
NR4A3	8013	broad.mit.edu	37	9	102590573	102590573	+	Missense_Mutation	SNP	G	G	T	rs137876606	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:102590573G>T	uc004baf.1	+	3	978	c.249G>T	c.(247-249)TTG>TTT	p.L83F	NR4A3_uc004bae.2_Missense_Mutation_p.L83F|NR4A3_uc004bag.1_Missense_Mutation_p.L83F|NR4A3_uc004bai.2_Missense_Mutation_p.L94F	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	83					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)				AGCGGCCCTTGATCAAAGTGG	0.473			T	EWSR1	extraskeletal myxoid chondrosarcoma							
MURC	347273	broad.mit.edu	37	9	103348453	103348453	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:103348453G>A	uc004bba.2	+	2	905	c.815G>A	c.(814-816)CGC>CAC	p.R272H		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	272					cell differentiation|muscle organ development|transcription, DNA-dependent					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0461)				TTTAAGATGCGCAGCCTCAGG	0.537												
ZNF189	7743	broad.mit.edu	37	9	104170526	104170526	+	Missense_Mutation	SNP	G	G	A	rs146668775		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:104170526G>A	uc004bbh.1	+	3	752	c.476G>A	c.(475-477)CGC>CAC	p.R159H	ZNF189_uc004bbg.1_Missense_Mutation_p.R117H|ZNF189_uc004bbi.1_Missense_Mutation_p.R145H|ZNF189_uc011lvk.1_Missense_Mutation_p.R144H	NM_003452	NP_003443	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	159	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)				GGTTTTGTCCGCAAGGCCCAT	0.383												
OR13C4	138804	broad.mit.edu	37	9	107289337	107289337	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:107289337C>T	uc011lvn.1	-	1	154	c.154G>A	c.(154-156)GAT>AAT	p.D52N		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGACGAGAATCCAAGATGCTT	0.433												
ZNF462	58499	broad.mit.edu	37	9	109690191	109690191	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:109690191G>A	uc004bcz.2	+	3	4287	c.3998G>A	c.(3997-3999)CGG>CAG	p.R1333Q	ZNF462_uc010mto.2_Missense_Mutation_p.R1181Q|ZNF462_uc004bda.2_Missense_Mutation_p.R1181Q	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1333					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						CATTACCAACGGAGGCATCCA	0.542												
ZNF462	58499	broad.mit.edu	37	9	109701240	109701240	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:109701240G>A	uc004bcz.2	+	7	6568	c.6279G>A	c.(6277-6279)ATG>ATA	p.M2093I	ZNF462_uc010mto.2_Missense_Mutation_p.M2002I|ZNF462_uc004bda.2_Missense_Mutation_p.M2001I|ZNF462_uc011lvz.1_Missense_Mutation_p.M50I|ZNF462_uc004bdb.1_Missense_Mutation_p.M1I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2093	C2H2-type 21.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						TCTCCACCATGACAATCAGCC	0.532												
IKBKAP	8518	broad.mit.edu	37	9	111640275	111640275	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:111640275C>A	uc004bdm.3	-	35	4375	c.3855G>T	c.(3853-3855)CCG>CCT	p.P1285P	IKBKAP_uc004bdl.2_Silent_p.P936P|IKBKAP_uc011lwc.1_Silent_p.P1171P|IKBKAP_uc010mtq.2_Silent_p.P936P|IKBKAP_uc004bdk.2_Silent_p.P289P|IKBKAP_uc010mtp.2_RNA	NM_003640	NP_003631	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene	1285					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						GAAAACTTACCGGGGTAGCTG	0.393												
SVEP1	79987	broad.mit.edu	37	9	113312184	113312184	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:113312184G>A	uc010mtz.2	-	2	1069	c.732C>T	c.(730-732)TAC>TAT	p.Y244Y	SVEP1_uc010mua.1_Silent_p.Y244Y|SVEP1_uc004beu.2_Silent_p.Y244Y|SVEP1_uc004bev.2_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	244	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TGTGTAGCAGGTAACAGTGCT	0.463												
ZNF483	158399	broad.mit.edu	37	9	114304378	114304378	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:114304378G>T	uc004bff.2	+	6	1387	c.1163G>T	c.(1162-1164)AGG>ATG	p.R388M	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	388					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						TTGGGGGATAGGTCCCAAAAA	0.403												
ZFP37	7539	broad.mit.edu	37	9	115818897	115818897	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:115818897C>T	uc004bgm.1	-	1	100	c.72G>A	c.(70-72)ACG>ACA	p.T24T	ZFP37_uc011lwz.1_Silent_p.T24T|ZFP37_uc011lxa.1_Silent_p.T24T	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	24						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CCTCTTTGGTCGTTTCCGCAC	0.652												
FKBP15	23307	broad.mit.edu	37	9	115948583	115948583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:115948583G>A	uc004bgs.2	-	15	1562	c.1444C>T	c.(1444-1446)CAG>TAG	p.Q482*	FKBP15_uc010muu.1_Nonsense_Mutation_p.Q546*|FKBP15_uc004bgr.2_5'Flank|FKBP15_uc011lxc.1_Nonsense_Mutation_p.Q63*|FKBP15_uc011lxd.1_Nonsense_Mutation_p.Q414*|FKBP15_uc010mut.1_Nonsense_Mutation_p.Q350*	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	482					endocytosis|protein folding	axon|early endosome	actin binding	p.A482A(1)		ovary(3)	3						CGAACGGGCTGCAGCTGGGAG	0.542												
FKBP15	23307	broad.mit.edu	37	9	115962135	115962135	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:115962135C>T	uc004bgs.2	-	7	725	c.607G>A	c.(607-609)GCC>ACC	p.A203T	FKBP15_uc010muu.1_Missense_Mutation_p.A267T|FKBP15_uc011lxd.1_Missense_Mutation_p.A135T|FKBP15_uc010mut.1_Missense_Mutation_p.A71T|FKBP15_uc004bgt.2_Missense_Mutation_p.A203T	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	203	PPIase FKBP-type.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						CCGGTATAGGCCACTTCCAAA	0.498												
AMBP	259	broad.mit.edu	37	9	116835296	116835296	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:116835296C>T	uc004bie.3	-	5	728	c.465G>A	c.(463-465)CCG>CCA	p.P155P	AMBP_uc011lxk.1_Silent_p.P96P|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	155					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCCTCAGCTGCGGCGCCCGCC	0.572												
TNC	3371	broad.mit.edu	37	9	117827093	117827093	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:117827093T>C	uc004bjj.3	-	11	3682	c.3320A>G	c.(3319-3321)CAG>CGG	p.Q1107R	TNC_uc010mvf.2_Missense_Mutation_p.Q1107R	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1107	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CTCCTGCACCTGAATGATAAA	0.602												
PAPPA	5069	broad.mit.edu	37	9	118950108	118950108	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:118950108A>G	uc004bjn.2	+	2	1472	c.1091A>G	c.(1090-1092)GAT>GGT	p.D364G	PAPPA_uc011lxp.1_Missense_Mutation_p.D157G|PAPPA_uc011lxq.1_Missense_Mutation_p.D157G	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	364	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						TATGAAGATGATCATAAGAAC	0.552												
DBC1	1620	broad.mit.edu	37	9	121930156	121930156	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:121930156G>A	uc004bkc.2	-	8	1948	c.1492C>T	c.(1492-1494)CGC>TGC	p.R498C		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	498					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						ACGTAGAGGCGTGAGTCCATC	0.572												
CDK5RAP2	55755	broad.mit.edu	37	9	123298792	123298792	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:123298792C>T	uc004bkf.2	-	7	701	c.520G>A	c.(520-522)GCC>ACC	p.A174T	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.A174T|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.A174T|CDK5RAP2_uc004bki.2_5'UTR	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	174					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						TCTGCCTGGGCGGCTGTCACA	0.398												
OR1N1	138883	broad.mit.edu	37	9	125288680	125288680	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:125288680G>C	uc004bmn.1	-	1	893	c.893C>G	c.(892-894)GCC>GGC	p.A298G		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						CCTCTTTAGGGCCCCCTTCAT	0.348												
OR1K1	392392	broad.mit.edu	37	9	125563254	125563254	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:125563254A>G	uc011lze.1	+	1	853	c.853A>G	c.(853-855)ATG>GTG	p.M285V		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGTCACCCCCATGCTGAACCC	0.577												
SCAI	286205	broad.mit.edu	37	9	127764275	127764275	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:127764275G>A	uc004bpe.2	-	12	1194	c.1113C>T	c.(1111-1113)GGC>GGT	p.G371G	SCAI_uc004bpd.2_Silent_p.G394G|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	371					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5						TGGGGAAAACGCCAGTGGCCG	0.433												
FAM125B	89853	broad.mit.edu	37	9	129184183	129184183	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:129184183G>A	uc004bqh.1	+	7	794	c.713G>A	c.(712-714)CGG>CAG	p.R238Q	FAM125B_uc011lzy.1_Missense_Mutation_p.R223Q|FAM125B_uc010mxd.2_Missense_Mutation_p.R231Q	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	238					protein transport	late endosome membrane					0						AACAGCACCCGGACGGACTAC	0.562												
FAM129B	64855	broad.mit.edu	37	9	130271341	130271341	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:130271341A>G	uc004brh.2	-	10	1433	c.1231T>C	c.(1231-1233)TCG>CCG	p.S411P	FAM129B_uc004bri.2_Missense_Mutation_p.S398P|FAM129B_uc004brj.3_Missense_Mutation_p.S411P	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	411							protein binding				0						AGTCGCAGCGACTCCATCTTC	0.637												
SH2D3C	10044	broad.mit.edu	37	9	130506877	130506877	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:130506877G>A	uc004bsc.2	-	7	1908	c.1766C>T	c.(1765-1767)ACG>ATG	p.T589M	SH2D3C_uc010mxo.2_Missense_Mutation_p.T429M|SH2D3C_uc004bry.2_Missense_Mutation_p.T431M|SH2D3C_uc004brz.3_Missense_Mutation_p.T235M|SH2D3C_uc011mak.1_Missense_Mutation_p.T235M|SH2D3C_uc004bsa.2_Missense_Mutation_p.T432M|SH2D3C_uc004bsb.2_Missense_Mutation_p.T521M	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	589	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						CCGGGCCAGCGTCCGGGCATC	0.632												
SLC27A4	10999	broad.mit.edu	37	9	131112801	131112801	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131112801G>A	uc004but.2	+	6	1108	c.824G>A	c.(823-825)CGC>CAC	p.R275H	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	275					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						TATGGATTCCGCATGCGGCCC	0.607												
SPTAN1	6709	broad.mit.edu	37	9	131388887	131388887	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131388887G>A	uc004bvl.3	+	48	6595	c.6482G>A	c.(6481-6483)CGC>CAC	p.R2161H	SPTAN1_uc004bvm.3_Missense_Mutation_p.R2166H|SPTAN1_uc004bvn.3_Missense_Mutation_p.R2141H|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2161	Spectrin 22.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						AAGAGCTTCCGCGTAGCCTCC	0.617												
ZDHHC12	84885	broad.mit.edu	37	9	131483570	131483570	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131483570C>T	uc004bvy.2	-	5	730	c.694G>A	c.(694-696)GAC>AAC	p.D232N	ZDHHC12_uc004bvz.2_Missense_Mutation_p.D287N	NM_032799	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC domain containing 12	232						integral to membrane	acyltransferase activity|zinc ion binding				0						AGGCCTCGGTCGAAGGGGTTG	0.652												
ZER1	10444	broad.mit.edu	37	9	131515105	131515105	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131515105C>T	uc004bwa.1	-	5	1203	c.770G>A	c.(769-771)CGC>CAC	p.R257H		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	257	LRR 2.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						GCTGGAGAGGCGGTCTCGGGA	0.577												
NUP188	23511	broad.mit.edu	37	9	131733236	131733236	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131733236A>T	uc004bws.1	+	11	1134	c.1112A>T	c.(1111-1113)GAT>GTT	p.D371V		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	371					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						GGGGGAAATGATGTGAGTTTA	0.483												
CRAT	1384	broad.mit.edu	37	9	131862842	131862842	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131862842C>A	uc004bxh.2	-	7	1214	c.932G>T	c.(931-933)GGG>GTG	p.G311V	CRAT_uc004bxg.2_Missense_Mutation_p.G290V|CRAT_uc004bxk.3_Missense_Mutation_p.G290V	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	311					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GCTGCCGCCCCCATGCAGCAT	0.627												
PRDM12	59335	broad.mit.edu	37	9	133542071	133542071	+	Silent	SNP	C	C	A	rs143960255		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:133542071C>A	uc004bzt.1	+	2	360	c.300C>A	c.(298-300)CTC>CTA	p.L100L		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	100	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GCGAGGGCCTCGGCATCTTCT	0.642												
PPAPDC3	84814	broad.mit.edu	37	9	134165403	134165403	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:134165403C>T	uc004cal.2	+	1	323	c.19C>T	c.(19-21)CGG>TGG	p.R7W		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	7	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TTCCCAGAGCCGGGCCCGTGC	0.706												
BAT2L1	84726	broad.mit.edu	37	9	134321811	134321811	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:134321811G>A	uc004can.3	+	6	692	c.637G>A	c.(637-639)GGT>AGT	p.G213S	BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Missense_Mutation_p.G213S	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	213							protein binding				0						GAGGGAGGGCGGTGGGCGACA	0.582												
BAT2L1	84726	broad.mit.edu	37	9	134350981	134350981	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:134350981C>T	uc004can.3	+	15	3520	c.3465C>T	c.(3463-3465)AAC>AAT	p.N1155N	BAT2L1_uc010mzj.1_Silent_p.N738N|BAT2L1_uc004cao.3_Silent_p.N513N	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1155							protein binding				0						GCTCCGAGAACGGGAATGAAG	0.612												
BAT2L1	84726	broad.mit.edu	37	9	134354732	134354732	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:134354732G>A	uc004can.3	+	18	4907	c.4852G>A	c.(4852-4854)GTG>ATG	p.V1618M	BAT2L1_uc004cao.3_Missense_Mutation_p.V976M	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1618							protein binding				0						TGACGTGACCGTGCCTGGCAG	0.577												
POMT1	10585	broad.mit.edu	37	9	134384333	134384333	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:134384333T>C	uc004cav.2	+	6	665	c.463T>C	c.(463-465)TTG>CTG	p.L155L	POMT1_uc011mci.1_Intron|POMT1_uc004cax.2_Silent_p.L155L|POMT1_uc011mcj.1_Intron|POMT1_uc004cau.2_Silent_p.L155L|POMT1_uc004caw.2_Silent_p.L101L|POMT1_uc011mck.1_Silent_p.L38L|POMT1_uc011mcl.1_Silent_p.L3L|POMT1_uc011mcm.1_Silent_p.L125L|POMT1_uc011mcn.1_5'Flank	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	155	Helical; (Potential).				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GCTAATGCTTTTGGAATCAGT	0.388												
GFI1B	8328	broad.mit.edu	37	9	135863633	135863633	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:135863633C>T	uc004ccg.2	+	4	439	c.288C>T	c.(286-288)TCC>TCT	p.S96S	GFI1B_uc010mzy.2_Silent_p.S96S	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	96	Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CTCCACTGTCCGACTCACCCC	0.592												
GFI1B	8328	broad.mit.edu	37	9	135864465	135864465	+	Silent	SNP	C	C	T	rs138653823		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:135864465C>T	uc004ccg.2	+	5	679	c.528C>T	c.(526-528)CAC>CAT	p.H176H	GFI1B_uc010mzy.2_Intron	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	176	C2H2-type 1.|Mediates interaction with GATA1.|Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCACCCCTCACGGGCTCGAAG	0.662												
RPL7A	6130	broad.mit.edu	37	9	136217531	136217531	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:136217531G>A	uc004cde.1	+	6	605	c.575G>A	c.(574-576)CGT>CAT	p.R192H	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_Missense_Mutation_p.R16H|SNORD36C_uc010nak.2_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	ribosomal protein L7a	192					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		AGACTGGGACGTCTAGTCCAC	0.512												
VAV2	7410	broad.mit.edu	37	9	136653484	136653484	+	Missense_Mutation	SNP	C	C	T	rs150924742		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:136653484C>T	uc004ces.2	-	15	1445	c.1399G>A	c.(1399-1401)GTC>ATC	p.V467I	VAV2_uc004cer.2_Missense_Mutation_p.V462I|VAV2_uc004cet.1_Missense_Mutation_p.V11I	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	467	PH.				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)		ACCTTCTTGACGTCCTTGTTG	0.617												
WDR5	11091	broad.mit.edu	37	9	137007769	137007769	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:137007769C>T	uc004cey.2	+	7	627	c.456C>T	c.(454-456)AGC>AGT	p.S152S	WDR5_uc004cez.2_Silent_p.S152S	NM_017588	NP_060058	P61964	WDR5_HUMAN	WD repeat domain 5	152	WD 3.				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				0		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)		TTGACGAAAGCGTGAGGATAT	0.522												
MRPS2	51116	broad.mit.edu	37	9	138395682	138395682	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:138395682G>A	uc004cfv.3	+	4	668	c.594G>A	c.(592-594)ACG>ACA	p.T198T	MRPS2_uc004cfw.3_Silent_p.T108T|MRPS2_uc004cfx.3_Silent_p.T113T|MRPS2_uc010nat.2_Silent_p.T179T|uc004cfy.2_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	198					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TCCTGCACACGCTCAACAACA	0.617												
SOHLH1	402381	broad.mit.edu	37	9	138586271	138586271	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:138586271G>A	uc004cgl.2	-	7	969	c.908C>T	c.(907-909)ACG>ATG	p.T303M	SOHLH1_uc010nbe.2_Missense_Mutation_p.T303M	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	303					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CAGGAAGGACGTCCCATCGTC	0.617												
SOHLH1	402381	broad.mit.edu	37	9	138590922	138590922	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:138590922G>A	uc004cgl.2	-	2	177	c.116C>T	c.(115-117)TCG>TTG	p.S39L	SOHLH1_uc010nbe.2_Missense_Mutation_p.S39L	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	39					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GGGCGGGCCCGAGCCCCGGGC	0.701												
SNAPC4	6621	broad.mit.edu	37	9	139286540	139286540	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:139286540C>T	uc004chh.2	-	9	838	c.829G>A	c.(829-831)GCA>ACA	p.A277T		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	277	Myb-like 1.				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)		ATCTCCTCTGCACTGCGGCTG	0.637												
SEC16A	9919	broad.mit.edu	37	9	139360442	139360442	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:139360442G>A	uc004chx.2	-	8	4584	c.4275C>T	c.(4273-4275)GCC>GCT	p.A1425A	SEC16A_uc004chv.3_Silent_p.A815A|SEC16A_uc004chw.2_Silent_p.A1425A|SEC16A_uc010nbn.2_Silent_p.A1425A	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1247					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGACGGTGTCGGCAGGGTAGC	0.632												
NOTCH1	4851	broad.mit.edu	37	9	139401320	139401320	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:139401320C>T	uc004chz.2	-	23	3749	c.3749G>A	c.(3748-3750)GGC>GAC	p.G1250D	NOTCH1_uc004cia.1_Missense_Mutation_p.G480D	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1250	Extracellular (Potential).|EGF-like 32; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGCTGTAGCCGCCCACCTG	0.652			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
ABCA2	20	broad.mit.edu	37	9	139904435	139904435	+	Silent	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:139904435C>A	uc011mem.1	-	41	6640	c.6492G>T	c.(6490-6492)CGG>CGT	p.R2164R	ABCA2_uc011mel.1_Silent_p.R2165R|ABCA2_uc004ckl.1_Silent_p.R2095R|ABCA2_uc004ckm.1_Silent_p.R2195R	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2164	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGATCCTCACCCGGGCCTCGT	0.687												
ABCA2	20	broad.mit.edu	37	9	139915842	139915842	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:139915842A>G	uc011mem.1	-	7	1042	c.894_splice	c.e7+1	p.Q298_splice	ABCA2_uc011mel.1_Splice_Site_p.Q299_splice|ABCA2_uc004ckl.1_Splice_Site_p.Q229_splice|ABCA2_uc004ckm.1_Splice_Site_p.Q329_splice|ABCA2_uc004cko.1_Splice_Site_p.Q75_splice|ABCA2_uc010nca.2_Splice_Site_p.Q229_splice	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2						cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGGGCCTCACCTGCTGGGA	0.687												
ANAPC2	29882	broad.mit.edu	37	9	140080740	140080740	+	Missense_Mutation	SNP	C	C	T	rs146337536		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:140080740C>T	uc004clr.1	-	3	882	c.809G>A	c.(808-810)CGG>CAG	p.R270Q	ANAPC2_uc004clq.1_Missense_Mutation_p.R129Q|SSNA1_uc004cls.2_5'Flank	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	270					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|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|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CATCCTCTCCCGGGTCACCTG	0.672												
CACNA1B	774	broad.mit.edu	37	9	141016148	141016148	+	Silent	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:141016148G>T	uc004cog.2	+	46	6862	c.6717G>T	c.(6715-6717)CTG>CTT	p.L2239L	CACNA1B_uc004coi.2_Silent_p.L1451L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	2239	Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACGCCCTGCTGCAGAGAGACC	0.672												
PPP2R3B	28227	broad.mit.edu	37	X	299443	299443	+	Silent	SNP	G	G	A	rs138229897		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:299443G>A	uc004cpg.2	-	12	1674	c.1473C>T	c.(1471-1473)GAC>GAT	p.D491D	PPP2R3B_uc004cpf.2_Silent_p.D92D	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	491					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCTGTCACCGTCCTGGAGGA	0.537												
PPP2R3B	28227	broad.mit.edu	37	X	302619	302619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:302619G>A	uc004cpg.2	-	8	1285	c.1084C>T	c.(1084-1086)CGA>TGA	p.R362*	PPP2R3B_uc004cpf.2_5'Flank	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	362					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGTACGTACCGTGTGACTGCT	0.617												
MXRA5	25878	broad.mit.edu	37	X	3240888	3240888	+	Silent	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:3240888T>C	uc004crg.3	-	5	2995	c.2838A>G	c.(2836-2838)GCA>GCG	p.A946A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	946						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAACATCTGCTGCAGACCAAC	0.498												
OFD1	8481	broad.mit.edu	37	X	13764538	13764538	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:13764538A>C	uc004cvp.3	+	7	977	c.618A>C	c.(616-618)GAA>GAC	p.E206D	OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_Missense_Mutation_p.E66D|OFD1_uc010nen.2_Missense_Mutation_p.E205D|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.E205D|OFD1_uc004cvv.3_Missense_Mutation_p.E205D|OFD1_uc010neo.1_5'UTR	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	206	Potential.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						ATAAGAGAGAAATAGAAGAGC	0.358												
BEND2	139105	broad.mit.edu	37	X	18192292	18192292	+	Silent	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:18192292A>G	uc004cyj.3	-	12	1993	c.1839T>C	c.(1837-1839)GGT>GGC	p.G613G	BEND2_uc010nfb.2_Silent_p.G522G	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	613										ovary(3)|kidney(1)|central_nervous_system(1)	5						AACAGCCTTCACCACCATCTC	0.428												
KLHL34	257240	broad.mit.edu	37	X	21674642	21674642	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:21674642G>A	uc004czz.1	-	1	1807	c.1265C>T	c.(1264-1266)GCG>GTG	p.A422V		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	422	Kelch 2.									ovary(1)	1						CTCGCCCACCGCGCCGCACCA	0.731												
MAGEB6	158809	broad.mit.edu	37	X	26212529	26212529	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:26212529G>A	uc004dbr.2	+	2	715	c.566G>A	c.(565-567)CGC>CAC	p.R189H	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	189										ovary(3)	3						ATTTTTAAGCGCTTAAGCAAA	0.468												
MAGEB2	4113	broad.mit.edu	37	X	30236743	30236743	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:30236743C>T	uc004dbz.2	+	2	149	c.46C>T	c.(46-48)CGC>TGC	p.R16C		NM_002364	NP_002355	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	16							protein binding			ovary(1)	1						TGAGAAACGCCGCAAGGCCCG	0.547												
CASK	8573	broad.mit.edu	37	X	41712439	41712439	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:41712439G>A	uc004dfl.3	-	2	147	c.101C>T	c.(100-102)ACT>ATT	p.T34I	CASK_uc004dfm.3_Missense_Mutation_p.T34I|CASK_uc004dfn.3_Missense_Mutation_p.T34I	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	34	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						TTGTTGCCCAGTTTCTCTGTT	0.348												
PHF16	9767	broad.mit.edu	37	X	46913989	46913989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:46913989C>T	uc004dgx.2	+	9	1453	c.1402C>T	c.(1402-1404)CGA>TGA	p.R468*	PHF16_uc004dgy.2_Nonsense_Mutation_p.R468*	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	468					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						CATTCACACTCGAATGAGAAT	0.463												
PHF16	9767	broad.mit.edu	37	X	46918475	46918475	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:46918475G>T	uc004dgx.2	+	11	2519	c.2468G>T	c.(2467-2469)AGG>ATG	p.R823M	PHF16_uc004dgy.2_Missense_Mutation_p.R823M	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	823					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						TCAATGCAAAGGTGATTAGAA	0.438												
RBM10	8241	broad.mit.edu	37	X	47038780	47038780	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:47038780C>T	uc004dhf.2	+	9	1166	c.787C>T	c.(787-789)CGG>TGG	p.R263W	RBM10_uc004dhg.2_Missense_Mutation_p.R186W|RBM10_uc004dhh.2_Missense_Mutation_p.R263W|RBM10_uc010nhq.2_Missense_Mutation_p.R186W|RBM10_uc004dhi.2_Missense_Mutation_p.R328W	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	263					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						ACTGGGTGGCCGGGAGCTGAG	0.677												
ZNF81	347344	broad.mit.edu	37	X	47775019	47775019	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:47775019G>A	uc010nhy.1	+	6	1342	c.974G>A	c.(973-975)AGA>AAA	p.R325K		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	325						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)				AGAGTTCATAGAGATGAAAAA	0.343												
CCNB3	85417	broad.mit.edu	37	X	50052225	50052225	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:50052225G>A	uc004dox.3	+	6	1354	c.1056G>A	c.(1054-1056)TTG>TTA	p.L352L	CCNB3_uc004doy.2_Silent_p.L352L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	352					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)					CATTGGCCTTGCAGAAGACCA	0.428												
SHROOM4	57477	broad.mit.edu	37	X	50350982	50350982	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:50350982G>A	uc004dpe.2	-	6	3186	c.3160C>T	c.(3160-3162)CGC>TGC	p.R1054C	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1054					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					GCACGGCTGCGCAGTGGGTGG	0.552												
SMC1A	8243	broad.mit.edu	37	X	53426556	53426556	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:53426556C>T	uc004dsg.2	-	16	2586	c.2517G>A	c.(2515-2517)GAG>GAA	p.E839E	SMC1A_uc011moe.1_Silent_p.E817E	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	839	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						TCACTGTCTGCTCCCACATGT	0.383												
PFKFB1	5207	broad.mit.edu	37	X	54971960	54971960	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:54971960A>G	uc004dty.1	-	10	1081	c.1010T>C	c.(1009-1011)ATG>ACG	p.M337T	PFKFB1_uc010nkd.1_Missense_Mutation_p.M145T|PFKFB1_uc011mol.1_Missense_Mutation_p.M272T	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	337	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						TTCATAGGTCATCTCCTCACA	0.428												
MAGEH1	28986	broad.mit.edu	37	X	55479176	55479176	+	Silent	SNP	A	A	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:55479176A>C	uc004dum.2	+	1	639	c.369A>C	c.(367-369)GGA>GGC	p.G123G		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	melanoma antigen, family H, 1 protein	123	MAGE.				apoptosis					ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TGCAGCCTGGACGTCAGCACA	0.522												
LAS1L	81887	broad.mit.edu	37	X	64743993	64743993	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:64743993G>A	uc004dwa.1	-	10	1315	c.1243C>T	c.(1243-1245)CGG>TGG	p.R415W	LAS1L_uc004dwc.1_Missense_Mutation_p.R398W|LAS1L_uc004dwd.1_Missense_Mutation_p.R356W	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	415						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						TAGGTAGGCCGGATCCCGCTG	0.612												
NLGN3	54413	broad.mit.edu	37	X	70367787	70367787	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:70367787T>C	uc004dzd.1	+	1	388	c.188T>C	c.(187-189)CTG>CCG	p.L63P	NLGN3_uc010nlb.1_Missense_Mutation_p.L63P|NLGN3_uc004dzb.2_Missense_Mutation_p.L63P|NLGN3_uc004dzc.2_Intron|NLGN3_uc011mps.1_Missense_Mutation_p.L63P|NLGN3_uc011mpr.1_Missense_Mutation_p.L63P	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	63	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					AGTGAGATCCTGGGGCCTGTG	0.637												
ITGB1BP2	26548	broad.mit.edu	37	X	70523125	70523125	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:70523125C>A	uc004dzr.1	+	5	360	c.331C>A	c.(331-333)CTG>ATG	p.L111M	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.L93M	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2	111					muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					AGAGTTGCCTCTGAAGCTGCT	0.483												
TAF1	6872	broad.mit.edu	37	X	70674047	70674047	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:70674047C>T	uc004dzu.3	+	33	4829	c.4778C>T	c.(4777-4779)GCC>GTC	p.A1593V	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.A1614V|TAF1_uc004dzv.3_Missense_Mutation_p.A767V|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Missense_Mutation_p.A18V|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1593	Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				ACTAAGACTGCCCAGGAGATT	0.333												
ACRC	93953	broad.mit.edu	37	X	70823607	70823607	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:70823607C>T	uc004eae.2	+	8	981	c.480C>T	c.(478-480)GAC>GAT	p.D160D	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	160	Asp/Ser-rich.					nucleus				ovary(3)	3	Renal(35;0.156)					AAGCTCCTGACGACAACAGTG	0.493												
ABCB7	22	broad.mit.edu	37	X	74296377	74296377	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:74296377G>A	uc004eca.2	-	5	591	c.566C>T	c.(565-567)GCA>GTA	p.A189V	ABCB7_uc004ebz.2_Missense_Mutation_p.A190V|ABCB7_uc011mqn.1_Missense_Mutation_p.A163V|ABCB7_uc010nls.2_Missense_Mutation_p.A150V|ABCB7_uc010nlt.2_Missense_Mutation_p.A149V	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	189	ABC transmembrane type-1.|Helical; (Potential).				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						AACTGCTGTTGCCATGGTTGC	0.423												
CYLC1	1538	broad.mit.edu	37	X	83129239	83129239	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:83129239A>G	uc004eei.1	+	4	1544	c.1523A>G	c.(1522-1524)GAT>GGT	p.D508G	CYLC1_uc004eeh.1_Missense_Mutation_p.D507G	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	508	7.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						TCAAAGAAAGATATCAAGAAG	0.348												
KLHL4	56062	broad.mit.edu	37	X	86877405	86877405	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:86877405G>A	uc004efb.2	+	5	1301	c.1119G>A	c.(1117-1119)CTG>CTA	p.L373L	KLHL4_uc004efa.2_Silent_p.L373L	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	373						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						ACATCAGACTGCCATTACTCC	0.408												
KLHL4	56062	broad.mit.edu	37	X	86890617	86890617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:86890617C>A	uc004efb.2	+	9	1949	c.1767C>A	c.(1765-1767)TAC>TAA	p.Y589*	KLHL4_uc004efa.2_Nonsense_Mutation_p.Y589*	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	589	Kelch 4.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CAATGGAATACTTTGACCCAC	0.398												
PCDH11X	27328	broad.mit.edu	37	X	91090524	91090524	+	Silent	SNP	G	G	A	rs138686525	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:91090524G>A	uc004efk.1	+	1	866	c.21G>A	c.(19-21)ACG>ACA	p.T7T	PCDH11X_uc004efl.1_Silent_p.T7T|PCDH11X_uc004efo.1_Silent_p.T7T|PCDH11X_uc010nmv.1_Silent_p.T7T|PCDH11X_uc004efm.1_Silent_p.T7T|PCDH11X_uc004efn.1_Silent_p.T7T|PCDH11X_uc004efh.1_Silent_p.T7T|PCDH11X_uc004efj.1_Silent_p.T7T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	7					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TGTCCGGGACGTACATTTTCG	0.483												
TIMM8A	1678	broad.mit.edu	37	X	100603603	100603603	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:100603603G>T	uc004ehd.2	-	1	355	c.50C>A	c.(49-51)CCG>CAG	p.P17Q	TIMM8A_uc011mri.1_Missense_Mutation_p.P17Q	NM_004085	NP_004076	O60220	TIM8A_HUMAN	translocase of inner mitochondrial membrane 8	17					nervous system development|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	protein binding				0						CTGCAACTGCGGGTCCACTGC	0.592												
FAM199X	139231	broad.mit.edu	37	X	103432971	103432971	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:103432971G>A	uc004elw.2	+	5	1146	c.980G>A	c.(979-981)CGG>CAG	p.R327Q	FAM199X_uc004elx.2_Intron	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	hypothetical protein LOC139231	327										ovary(1)	1						GCAGCAGAGCGGATTCGGGAT	0.403												
RNF128	79589	broad.mit.edu	37	X	106038898	106038898	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:106038898C>T	uc004eml.2	+	7	1492	c.1242C>T	c.(1240-1242)GAC>GAT	p.D414D	RNF128_uc004emk.2_Silent_p.D388D	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	414						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						TTGAAGAAGACGAAACTCCTA	0.358												
DCX	1641	broad.mit.edu	37	X	110574229	110574229	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:110574229G>A	uc004epd.2	-	5	1264	c.1092C>T	c.(1090-1092)GGC>GGT	p.G364G	DCX_uc011msv.1_Silent_p.G364G|DCX_uc004epe.2_Silent_p.G283G|DCX_uc004epf.2_Silent_p.G283G|DCX_uc004epg.2_Silent_p.G283G	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	364					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						ATGCCTTTGGGCCAGCTGTGG	0.537												
TRPC5	7224	broad.mit.edu	37	X	111155847	111155847	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:111155847C>T	uc004epl.1	-	3	1491	c.572G>A	c.(571-573)CGC>CAC	p.R191H	TRPC5_uc004epm.1_Missense_Mutation_p.R191H	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	191	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1						GCGAGAGTGGCGCAGGCTGTC	0.547												
NKAP	79576	broad.mit.edu	37	X	119077561	119077561	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:119077561G>A	uc004esh.2	-	1	175	c.8C>T	c.(7-9)CCG>CTG	p.P3L		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein	3					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			ovary(2)	2						GCCGGACACCGGAGCCATGGC	0.682												
STAG2	10735	broad.mit.edu	37	X	123217306	123217306	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:123217306C>A	uc004etz.3	+	28	3299	c.2960C>A	c.(2959-2961)CCG>CAG	p.P987Q	STAG2_uc004eua.2_Missense_Mutation_p.P987Q|STAG2_uc004eub.2_Missense_Mutation_p.P987Q|STAG2_uc004euc.2_Missense_Mutation_p.P987Q|STAG2_uc004eud.2_Missense_Mutation_p.P987Q|STAG2_uc004eue.2_Missense_Mutation_p.P987Q	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	987					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						GAGCCTAATCCGCAAGGGGAG	0.318												
DCAF12L1	139170	broad.mit.edu	37	X	125685932	125685932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:125685932C>T	uc004eul.2	-	1	911	c.660G>A	c.(658-660)TGG>TGA	p.W220*		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	220	WD 2.									skin(3)|ovary(1)	4						GGTCCATCCGCCACAGCGCCA	0.652												
SASH3	54440	broad.mit.edu	37	X	128914080	128914080	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:128914080C>T	uc011mun.1	+	1	189	c.7C>T	c.(7-9)CGC>TGC	p.R3C	SASH3_uc004euu.2_Missense_Mutation_p.R3C	NM_018990	NP_061863	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	3										ovary(2)|pancreas(1)	3						GACCATGCTGCGCCGCAAGCC	0.582												
RAB33A	9363	broad.mit.edu	37	X	129318570	129318570	+	Silent	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:129318570C>T	uc004evl.2	+	2	834	c.570C>T	c.(568-570)AAC>AAT	p.N190N	RAB33A_uc010nre.2_RNA	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Ras-related protein Rab-33A	190					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding				0						AGAGCCAGAACGTGGAGTCGA	0.527												
IGSF1	3547	broad.mit.edu	37	X	130419315	130419315	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:130419315C>T	uc004ewd.2	-	5	743	c.505G>A	c.(505-507)GCA>ACA	p.A169T	IGSF1_uc004ewe.3_Missense_Mutation_p.A158T|IGSF1_uc004ewf.2_Missense_Mutation_p.A149T|IGSF1_uc004ewg.2_Missense_Mutation_p.A169T	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	169	Ig-like C2-type 2.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						ACAGGCTCTGCATATCCCTCT	0.502												
SOX3	6658	broad.mit.edu	37	X	139586638	139586638	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:139586638G>A	uc004fbd.1	-	1	588	c.588C>T	c.(586-588)CGC>CGT	p.R196R		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	196	HMG box.				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					TGTGCACGGCGCGAAGTCGCT	0.587												
CNGA2	1260	broad.mit.edu	37	X	150907032	150907032	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:150907032C>T	uc004fey.1	+	2	301	c.77C>T	c.(76-78)GCC>GTC	p.A26V		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	26	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GCCATCAAGGCCAATGGCAAA	0.502												
GABRQ	55879	broad.mit.edu	37	X	151815583	151815583	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:151815583C>T	uc004ffp.1	+	4	501	c.481C>T	c.(481-483)CGC>TGC	p.R161C		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	161	Extracellular (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGGAGAATCGCGTGTTTCA	0.542												
MAGEA1	4100	broad.mit.edu	37	X	152482579	152482579	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:152482579G>A	uc004fhf.2	-	3	652	c.432C>T	c.(430-432)TTC>TTT	p.F144F		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	144	MAGE.					cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCTTTGCCGAAGATCTCAG	0.507												
TREX2	11219	broad.mit.edu	37	X	152710780	152710780	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:152710780G>A	uc010nue.1	-	3	351	c.235C>T	c.(235-237)CGC>TGC	p.R79C	TREX2_uc010nud.1_Missense_Mutation_p.R37C|TREX2_uc011myp.1_Missense_Mutation_p.R37C|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	80					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			large_intestine(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGGAGGAGCGGTGGACAGCA	0.657								Editing_and_processing_nucleases				
ATP2B3	492	broad.mit.edu	37	X	152845747	152845747	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:152845747G>A	uc004fht.1	+	20	3780	c.3654G>A	c.(3652-3654)ACG>ACA	p.T1218T	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Silent_p.T355T|ATP2B3_uc004fhu.1_Silent_p.T170T	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	1218	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGTGGAGACGTCCCTCTAAC	0.383												
L1CAM	3897	broad.mit.edu	37	X	153128217	153128217	+	Silent	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:153128217G>A	uc004fjb.2	-	28	3783	c.3675C>T	c.(3673-3675)TTC>TTT	p.F1225F	L1CAM_uc004fjc.2_Silent_p.F1221F|L1CAM_uc010nuo.2_Silent_p.F1216F	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1225	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)					ACTGGCCAATGAACGAACCAT	0.597												
L1CAM	3897	broad.mit.edu	37	X	153135085	153135085	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:153135085C>T	uc004fjb.2	-	10	1265	c.1157G>A	c.(1156-1158)CGT>CAT	p.R386H	L1CAM_uc004fjc.2_Missense_Mutation_p.R386H|L1CAM_uc010nuo.2_Missense_Mutation_p.R381H|L1CAM_uc004fjd.1_Missense_Mutation_p.R200H	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	386	Extracellular (Potential).|Ig-like C2-type 4.		R -> C (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	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)					CAGGGCGCCACGCTGAATCCG	0.622												
FLNA	2316	broad.mit.edu	37	X	153588685	153588685	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:153588685C>T	uc004fkk.2	-	22	3727	c.3478G>A	c.(3478-3480)GCA>ACA	p.A1160T	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.A1160T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1160	Filamin 10.				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)					ACTTTGGATGCGTCAAAGCAG	0.652											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
ATP6AP1	537	broad.mit.edu	37	X	153660654	153660654	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:153660654G>A	uc004flf.1	+	4	467	c.406G>A	c.(406-408)GTC>ATC	p.V136I	ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.V96I	NM_001183	NP_001174	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory	136					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(3)|breast(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTCCTGCCGTCGACTGGTA	0.647											OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
F8	2157	broad.mit.edu	37	X	154159624	154159624	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:154159624C>T	uc004fmt.2	-	14	2612	c.2441G>A	c.(2440-2442)CGA>CAA	p.R814Q		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	814	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.R814*(1)		ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGGACTCTGTCGCAAGAGCAT	0.418												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	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												
APEH	327	broad.mit.edu	37	3	49719319	49719319	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49719318_49719318AG>A	uc010hkw.1	+	17	1923	c.1523_splice	c.e17-2	p.G508_splice	APEH_uc003cxf.3_Splice_Site_p.G508_splice	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	508					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTGTCTGCAGGGGGGCCCC	0.607												
FAM55C	91775	broad.mit.edu	37	3	101525973	101525973	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	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												
POLQ	10721	broad.mit.edu	37	3	121238933	121238933	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:121238932_121238932TA>T	uc003eee.4	-	9	1385	c.1256_splice	c.e9-1	p.G419_splice		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	419	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGTAAGACCTAAAAAAAGGA	0.373								DNA polymerases (catalytic subunits)				
MYLK	4638	broad.mit.edu	37	3	123368044	123368044	+	Splice_Site	DEL	G	G	-	rs138786404		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:123368043_123368043TG>T	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCA	0.622												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
EEF1D	1936	broad.mit.edu	37	8	144663327	144663327	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144663326_144663326TG>T	uc003yyq.2	-	5	1767	c.1538_splice	c.e5-1	p.V513_splice	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Splice_Site_p.V439_splice|EEF1D_uc011lki.2_Splice_Site_p.V97_splice|EEF1D_uc003yyv.3_Splice_Site_p.V73_splice|EEF1D_uc003yyu.3_Splice_Site_p.V97_splice|EEF1D_uc011lkk.2_Splice_Site_p.V97_splice|EEF1D_uc003yyt.3_Splice_Site_p.V463_splice|EEF1D_uc003yyr.3_Splice_Site_p.V463_splice|EEF1D_uc003yys.3_Splice_Site_p.V97_splice|EEF1D_uc011lkl.2_Splice_Site_p.V78_splice	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	97					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCTGTACCACTGGGGGGGCAA	0.692												
C9orf11	54586	broad.mit.edu	37	9	27296739	27296739	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:27296738_27296738TA>T	uc003zql.3	-	2	161	c.77_splice	c.e2-1	p.A26_splice	C9orf11_uc011lnq.2_Splice_Site_p.A26_splice|C9orf11_uc003zqm.3_Splice_Site_p.A26_splice	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	26						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		TAGGCAATGCTAAAAAAAAGT	0.323												
ATP6V0A2	23545	broad.mit.edu	37	12	124218472	124218472	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:124218471_124218471AG>A	uc001ufr.3	+	7	897	c.649_splice	c.e7-2	p.G217_splice	ATP6V0A2_uc001ufq.1_Splice_Site_p.G217_splice	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	217					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	p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	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)		CATTCTTTGTAGGGGGAAGTC	0.363												
C14orf149	112849	broad.mit.edu	37	14	59946072	59946072	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	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												
CREBBP	1387	broad.mit.edu	37	16	3817721	3817722	+	Splice_Site	INS	-	-	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:3817720_3817721C>CT	uc002cvv.3	-	16	3454	c.3250_splice	c.e16+1	p.I1084_splice	CREBBP_uc002cvw.3_Splice_Site_p.I1046_splice	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1084					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAATGGCCTACTTTTTTTGCGC	0.401			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome					
GP1BA	2811	broad.mit.edu	37	17	4837373	4837373	+	RNA	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:4837372_4837372CA>C	uc021toc.1	-	0		c.485_485TG>G			GP1BA_uc021tnz.1_Frame_Shift_Del_p.T491fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Del_p.T491fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCA	0.502												
ABCA5	23461	broad.mit.edu	37	17	67261049	67261049	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:67261048_67261048TA>T	uc002jif.2	-	23	4363	c.3145_splice	c.e23-1	p.I1049_splice	ABCA5_uc002jib.2_Splice_Site_p.I15_splice|ABCA5_uc002jic.2_Splice_Site_p.I272_splice|ABCA5_uc002jid.2_Intron|ABCA5_uc002jie.2_Splice_Site|ABCA5_uc002jig.2_Splice_Site_p.I1049_splice	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1049					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AGCTTTGATCTAAAAAAAATG	0.259												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
CATSPER4	378807	broad.mit.edu	37	1	26529010	26529010	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:26529010delA	uc010oez.1	+	10	1396	c.1396delA	c.(1396-1398)AAAfs	p.K466fs	CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	466	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AATACTCCTTAAAAAACACAA	0.547												
CACNA1E	777	broad.mit.edu	37	1	181701896	181701897	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:181701896_181701897delTG	uc001gow.2	+	20	2839_2840	c.2674_2675delTG	c.(2674-2676)TGTfs	p.C892fs	CACNA1E_uc009wxs.2_Frame_Shift_Del_p.C780fs|CACNA1E_uc001gox.1_Frame_Shift_Del_p.C118fs|CACNA1E_uc009wxt.2_Frame_Shift_Del_p.C118fs	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	892	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCATGGAAACTGTGACCCGACT	0.678												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353												
ZNF518A	9849	broad.mit.edu	37	10	97920369	97920369	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:97920369delA	uc001klp.2	+	7	5148	c.4291delA	c.(4291-4293)AAAfs	p.K1431fs	ZNF518A_uc001klo.1_3'UTR|ZNF518A_uc001klq.2_3'UTR|ZNF518A_uc001klr.2_3'UTR	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAAGACAAGCAAAAACAATTA	0.313												
PITX3	5309	broad.mit.edu	37	10	103991384	103991386	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:103991384_103991386delCTC	uc001kuu.1	-	3	434_436	c.280_282delGAG	c.(280-282)GAGdel	p.E94del		NM_005029	NP_005020	O75364	PITX3_HUMAN	paired-like homeodomain 3	94	Homeobox.				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ACACGGCGATCTCCTCGCGCGTG	0.700												
TDRD1	56165	broad.mit.edu	37	10	115970683	115970683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:115970683delT	uc001lbg.1	+	13	1770	c.1617delT	c.(1615-1617)GATfs	p.D539fs	TDRD1_uc001lbf.2_Frame_Shift_Del_p.D530fs|TDRD1_uc001lbh.1_Frame_Shift_Del_p.D530fs|TDRD1_uc001lbi.1_Frame_Shift_Del_p.D530fs|TDRD1_uc010qsc.1_Frame_Shift_Del_p.D200fs|TDRD1_uc001lbj.2_Frame_Shift_Del_p.D248fs	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	539					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				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CACGCTCTGATTTTTATCCAG	0.348												
GIF	2694	broad.mit.edu	37	11	59603317	59603319	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:59603317_59603319delACA	uc001noi.2	-	7	1083_1085	c.1035_1037delTGT	c.(1033-1038)GTTGTC>GTC	p.345_346VV>V		NM_005142	NP_005133	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	345_346					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			ovary(1)|liver(1)	2						TTCCTCTAGGACAACAAGTAACA	0.414												
CTSC	1075	broad.mit.edu	37	11	88068108	88068108	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:88068108delA	uc001pck.3	-	2	416	c.315delT	c.(313-315)TTTfs	p.F105fs	CTSC_uc001pcl.3_5'UTR|CTSC_uc001pcm.3_Frame_Shift_Del_p.F105fs|CTSC_uc001pcn.3_Frame_Shift_Del_p.F105fs	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	105					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACTAACCTTAAAAAAGGCAA	0.338												
GUCY2C	2984	broad.mit.edu	37	12	14832594	14832594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:14832594delA	uc001rcd.2	-	6	964	c.827delT	c.(826-828)TTCfs	p.F276fs	GUCY2C_uc009zhz.2_Frame_Shift_Del_p.F276fs	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	276	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						TACCTACTTGAAAAGATCCAC	0.418												
GUCY2C	2984	broad.mit.edu	37	12	14840939	14840939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:14840939delT	uc001rcd.2	-	2	413	c.276delA	c.(274-276)TCAfs	p.S92fs	GUCY2C_uc009zhz.2_Frame_Shift_Del_p.S92fs	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	92	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						GGCAGTCGCCTGAGTTATGAA	0.473												
MED13L	23389	broad.mit.edu	37	12	116408550	116408550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:116408550delA	uc001tvw.2	-	27	5971	c.5916delT	c.(5914-5916)TTTfs	p.F1972fs		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1972					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)		TACTTCGGCCAAAAACAGAGC	0.428												
FAM123A	219287	broad.mit.edu	37	13	25744119	25744119	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:25744119delG	uc001uqb.2	-	1	1739	c.1639delC	c.(1639-1641)CGGfs	p.R547fs	FAM123A_uc001uqa.2_Frame_Shift_Del_p.R428fs|FAM123A_uc001uqc.2_Frame_Shift_Del_p.R428fs	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	547										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TAGCTATCCCGGGGGATGCCC	0.642												
FREM2	341640	broad.mit.edu	37	13	39357245	39357247	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:39357245_39357247delGAA	uc001uwv.2	+	5	5989_5991	c.5680_5682delGAA	c.(5680-5682)GAAdel	p.E1895del	FREM2_uc001uww.2_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1895	Extracellular (Potential).|Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATACTCCGTTGAAGAAGATGTTG	0.448												
TDRD3	81550	broad.mit.edu	37	13	61102848	61102848	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:61102848delA	uc001via.2	+	11	1998	c.1210delA	c.(1210-1212)AAAfs	p.K404fs	TDRD3_uc010aef.2_Frame_Shift_Del_p.K229fs|TDRD3_uc001vhz.3_Frame_Shift_Del_p.K404fs|TDRD3_uc010aeg.2_Frame_Shift_Del_p.K497fs|TDRD3_uc001vib.3_Frame_Shift_Del_p.K403fs	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	404					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGGTGCTTTTAAAAAAAGAGA	0.368												
GAS6	2621	broad.mit.edu	37	13	114542743	114542745	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:114542743_114542745delAGA	uc001vud.2	-	5	575_577	c.422_424delTCT	c.(421-426)TTCTGC>TGC	p.F141del	uc010tki.1_5'Flank	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	141	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				TTACACAGGCAGAAGAAGTTGCC	0.616												
C14orf43	91748	broad.mit.edu	37	14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:74205773delG	uc001xot.2	-	2	1722	c.939delC	c.(937-939)CCCfs	p.P313fs	C14orf43_uc001xou.2_Frame_Shift_Del_p.P313fs|C14orf43_uc010tud.1_Frame_Shift_Del_p.P313fs|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	313	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TATCTGGGTTGGGGGGGAAGG	0.662												
LACTB	114294	broad.mit.edu	37	15	63414111	63414111	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:63414111delC	uc002alw.2	+	1	80	c.41delC	c.(40-42)GCCfs	p.A14fs	LACTB_uc002alv.2_Frame_Shift_Del_p.A14fs	NM_032857	NP_116246	P83111	LACTB_HUMAN	lactamase, beta isoform a	14						mitochondrion	hydrolase activity				0						CGGGCTGCCGCCCCCGGGGGC	0.642												
CDH8	1006	broad.mit.edu	37	16	61747819	61747819	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:61747819delT	uc002eog.1	-	10	1832	c.1580delA	c.(1579-1581)AACfs	p.N527fs		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	527	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATAATGTCCGTTTTTGGGATC	0.383												
BCAR1	9564	broad.mit.edu	37	16	75271108	75271108	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:75271108delC	uc002fdv.2	-	3	891	c.768delG	c.(766-768)GGGfs	p.G256fs	BCAR1_uc002fdt.2_5'Flank|BCAR1_uc002fdu.2_Frame_Shift_Del_p.G46fs|BCAR1_uc010cgu.2_Frame_Shift_Del_p.G227fs|BCAR1_uc010vna.1_Frame_Shift_Del_p.G254fs|BCAR1_uc010vnb.1_Frame_Shift_Del_p.G302fs|BCAR1_uc002fdw.2_Frame_Shift_Del_p.G256fs|BCAR1_uc010vnc.1_Frame_Shift_Del_p.G108fs|BCAR1_uc010vnd.1_Frame_Shift_Del_p.G274fs|BCAR1_uc002fdx.2_Frame_Shift_Del_p.G274fs	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	256	Substrate for kinases (By similarity).				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)		TGGGAAGCAGCCCCCGAACCG	0.687												
TMEM102	284114	broad.mit.edu	37	17	7340807	7340807	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7340807delG	uc002ggx.1	+	3	1782	c.1509delG	c.(1507-1509)GTGfs	p.V503fs	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Frame_Shift_Del_p.V503fs|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.2_5'Flank|FGF11_uc002ggz.2_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	503	Cytoplasmic (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)				TGGCGGGCGTGGGGGGCGGGG	0.736												
HS3ST3B1	9953	broad.mit.edu	37	17	14205088	14205088	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:14205088delC	uc002goh.1	+	1	583	c.253delC	c.(253-255)CCCfs	p.P85fs	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	85	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		GGACGGGACGCCCCCCAGGCT	0.776												
ATAD5	79915	broad.mit.edu	37	17	29161693	29161693	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:29161693delA	uc002hfs.1	+	2	940	c.594delA	c.(592-594)ACAfs	p.T198fs	ATAD5_uc002hft.1_Frame_Shift_Del_p.T95fs	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	198					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGGGACCACAAAAAATGACT	0.338												
MSL1	339287	broad.mit.edu	37	17	38285573	38285573	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:38285573delA	uc002hub.2	+	3	484	c.465delA	c.(463-465)ACAfs	p.T155fs	MSL1_uc002hua.3_Frame_Shift_Del_p.T93fs|MSL1_uc002huc.2_Frame_Shift_Del_p.T93fs|MSL1_uc002hud.2_5'Flank	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	hampin	356					histone H4-K16 acetylation	MSL complex					0						AAGTCAAAACAAAAACTCCTA	0.383												
SCN4A	6329	broad.mit.edu	37	17	62049987	62049987	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:62049987delG	uc002jds.1	-	1	292	c.215delC	c.(214-216)CCGfs	p.P72fs		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	72					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GACCTCCGGCGGGGGGTCTCC	0.532												
BTBD17	388419	broad.mit.edu	37	17	72353616	72353616	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:72353616delC	uc002jkn.2	-	3	617	c.617delG	c.(616-618)GGCfs	p.G206fs		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	206	BACK.					extracellular region					0						GCTCACGGCGCCCCACTCGGT	0.701												
PIK3C3	5289	broad.mit.edu	37	18	39644789	39644789	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:39644789delA	uc002lap.2	+	23	2576	c.2518delA	c.(2518-2520)AAAfs	p.K840fs	PIK3C3_uc010xcl.1_Frame_Shift_Del_p.K777fs|PIK3C3_uc002laq.2_Frame_Shift_Del_p.K325fs	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	840	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						TAAAACTGTGAAAAAGGTAAT	0.328										TSP Lung(28;0.18)		
LGI4	163175	broad.mit.edu	37	19	35625539	35625539	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:35625539delC	uc002nxx.2	-	1	640	c.46delG	c.(46-48)GTGfs	p.V16fs	LGI4_uc002nxy.1_Intron|LGI4_uc002nxz.1_5'Flank|LGI4_uc002nya.2_Frame_Shift_Del_p.V16fs	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	16						extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCACCACCACCCCCGCCCCA	0.697												
ZC3H4	23211	broad.mit.edu	37	19	47570052	47570052	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:47570052delC	uc002pga.3	-	15	3511	c.3473delG	c.(3472-3474)GGCfs	p.G1158fs	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1158							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGTGGCTTTGCCCCCCGCGTT	0.697												
TRIM28	10155	broad.mit.edu	37	19	59056411	59056411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:59056411delC	uc002qtg.1	+	1	576	c.287delC	c.(286-288)GCCfs	p.A96fs	TRIM28_uc010eut.1_Frame_Shift_Del_p.A96fs	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	96	RING-type.|RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		gggcccgcggcccccgccgcc	0.602												
CAD	790	broad.mit.edu	37	2	27456982	27456982	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:27456982delC	uc002rji.2	+	22	3668	c.3506delC	c.(3505-3507)ACCfs	p.T1169fs	CAD_uc010eyw.2_Frame_Shift_Del_p.T1106fs	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1169	CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACGCTGGTGACCCCCCCACAA	0.577												
REL	5966	broad.mit.edu	37	2	61147771	61147771	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:61147771delA	uc002sam.1	+	10	1305	c.1081delA	c.(1081-1083)AAAfs	p.K361fs	REL_uc002san.1_Frame_Shift_Del_p.K329fs	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	361					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AAGATACTTCAAAAAAGGTAT	0.318			A		Hodgkin Lymphoma							
HTRA2	27429	broad.mit.edu	37	2	74757473	74757473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:74757473delG	uc002smi.1	+	1	942	c.340delG	c.(340-342)GGGfs	p.G114fs	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Frame_Shift_Del_p.G114fs|HTRA2_uc002smk.1_Frame_Shift_Del_p.G114fs|HTRA2_uc002sml.1_Frame_Shift_Del_p.G114fs|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	114	Helical; (Potential).				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						GCTGGGCGCTGGGGGGGCAGT	0.716												
CCDC148	130940	broad.mit.edu	37	2	159077217	159077217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:159077217delT	uc002tzq.2	-	11	1523	c.1260delA	c.(1258-1260)AAAfs	p.K420fs	CCDC148_uc002tzr.2_Frame_Shift_Del_p.K268fs|CCDC148_uc010foh.2_Frame_Shift_Del_p.K133fs	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	420	Glu/Lys-rich.									ovary(2)	2						TGGCCCAGTATTTTTTTATCT	0.318												
MAP2	4133	broad.mit.edu	37	2	210574801	210574802	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:210574801_210574802insA	uc002vde.1	+	12	5144_5145	c.4896_4897insA	c.(4894-4899)CCCAAGfs	p.P1632fs	MAP2_uc002vdd.1_Frame_Shift_Ins_p.P333fs|MAP2_uc002vdf.1_Frame_Shift_Ins_p.P276fs|MAP2_uc002vdg.1_Frame_Shift_Ins_p.P276fs|MAP2_uc002vdh.1_Frame_Shift_Ins_p.P333fs|MAP2_uc002vdi.1_Frame_Shift_Ins_p.P1628fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1632_1633					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAGGAACCCCCAAGTCTGCCAT	0.559												
CLIC6	54102	broad.mit.edu	37	21	36042950	36042950	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:36042950delC	uc010gmt.1	+	1	1263	c.1263delC	c.(1261-1263)GGCfs	p.G421fs	CLIC6_uc002yuf.1_Frame_Shift_Del_p.G421fs	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	421						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						CCGAGGAGGGCCCCGCCGAGG	0.761												
SIK1	150094	broad.mit.edu	37	21	44841868	44841868	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:44841868delT	uc002zdf.2	-	4	450	c.323delA	c.(322-324)AATfs	p.N108fs		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	108	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						CATTTCTCCATTTTTAGCAAA	0.443												
COL6A1	1291	broad.mit.edu	37	21	47423058	47423059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:47423058_47423059insC	uc002zhu.1	+	34	2561_2562	c.2459_2460insC	c.(2458-2460)TGCfs	p.C820fs	COL6A1_uc010gqd.1_Frame_Shift_Ins_p.C151fs|COL6A1_uc002zhv.1_Frame_Shift_Ins_p.C151fs|COL6A1_uc002zhw.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	820	C-terminal globular domain.				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)	GATTACACCTGCCCCAGTGAGT	0.629												
RASL10A	10633	broad.mit.edu	37	22	29711228	29711228	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:29711228delC	uc003aff.2	-	1	521	c.8delG	c.(7-9)GGTfs	p.G3fs	RASL10A_uc003afg.2_Frame_Shift_Del_p.G3fs	NM_006477	NP_006468	Q92737	RSLAA_HUMAN	RAS-related on chromosome 22 isoform a	3	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity				0						CCGCAGGCTACCCCCCATGGC	0.537												
ITPR1	3708	broad.mit.edu	37	3	4732998	4732999	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:4732998_4732999insA	uc003bqa.2	+	32	4320_4321	c.3972_3973insA	c.(3970-3975)ATTAAAfs	p.I1324fs	ITPR1_uc010hca.1_Frame_Shift_Ins_p.I1309fs|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Frame_Shift_Ins_p.I255fs	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1333_1334	Cytoplasmic (Potential).				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)		GGAAATTTATTAAAAAATGCCA	0.356												
PTPN23	25930	broad.mit.edu	37	3	47452588	47452588	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:47452588delC	uc003crf.1	+	20	3396	c.3300delC	c.(3298-3300)CGCfs	p.R1100fs	PTPN23_uc011baw.1_Frame_Shift_Del_p.R1065fs|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Frame_Shift_Del_p.R970fs|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1100	Pro-rich.|His.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCCCCTCGCCCCCCAGCAG	0.692												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632												
SLC6A3	6531	broad.mit.edu	37	5	1403165	1403165	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:1403165delG	uc003jck.2	-	13	1760	c.1639delC	c.(1639-1641)CACfs	p.H547fs		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	547					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCTCCGTAGTGGGGGGGTCTG	0.617												
NEUROG1	4762	broad.mit.edu	37	5	134870851	134870851	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:134870851delG	uc003lax.2	-	1	789	c.530delC	c.(529-531)CCAfs	p.P177fs		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	177					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCGGGGCTTGGGGGACCGGG	0.751												
SYCP2L	221711	broad.mit.edu	37	6	10935386	10935386	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:10935386delT	uc003mzo.2	+	21	2075	c.1779delT	c.(1777-1779)GCTfs	p.A593fs	SYCP2L_uc010jow.2_Frame_Shift_Del_p.A213fs	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	593						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATAGTTTTGCTTTTTTGACTG	0.348												
TTBK1	84630	broad.mit.edu	37	6	43252917	43252918	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:43252917_43252918delAG	uc003ouq.1	+	15	4048_4049	c.3769_3770delAG	c.(3769-3771)AGAfs	p.R1257fs		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1257	Pro-rich.					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)			CCTGTCCCGCAGAGAGAGCCCC	0.589												
OGDH	4967	broad.mit.edu	37	7	44706400	44706400	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:44706400delG	uc003tln.2	+	5	692	c.583delG	c.(583-585)GGGfs	p.G195fs	OGDH_uc003tlm.2_Frame_Shift_Del_p.G195fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.G191fs|OGDH_uc011kby.1_Frame_Shift_Del_p.S96fs|OGDH_uc003tlp.2_Frame_Shift_Del_p.G206fs|OGDH_uc011kbz.1_Frame_Shift_Del_p.S41fs|OGDH_uc003tlo.1_Frame_Shift_Del_p.G28fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	195					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	CACTTTCATCGGGGGACAGGA	0.522												
CASD1	64921	broad.mit.edu	37	7	94185017	94185017	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:94185017delT	uc003uni.3	+	18	2568	c.2341delT	c.(2341-2343)TTTfs	p.F781fs	CASD1_uc003unj.3_Frame_Shift_Del_p.F781fs	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	781	Helical; (Potential).					integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TATAGCTGCATTTTTTTGTGG	0.338												
PTPRZ1	5803	broad.mit.edu	37	7	121674154	121674157	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:121674154_121674157delGAAA	uc003vjy.2	+	16	5567_5570	c.5172_5175delGAAA	c.(5170-5175)CTGAAAfs	p.L1724fs	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Frame_Shift_Del_p.L314fs	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1724_1725	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.			Missing (in Ref. 2).	central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						ATTAGACACTGAAAGAGTTTTACC	0.304												
OR2A12	346525	broad.mit.edu	37	7	143792462	143792462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:143792462delA	uc011kty.1	+	1	262	c.262delA	c.(262-264)AAAfs	p.K88fs		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					TGTGATGCACAAAAAAGTCAT	0.438												
RUSC2	9853	broad.mit.edu	37	9	35547399	35547399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:35547399delC	uc003zww.2	+	2	1136	c.881delC	c.(880-882)ACCfs	p.T294fs	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Frame_Shift_Del_p.T294fs	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	294						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ATGCATGGCACCCCCCGTGCC	0.587												
SH3GLB2	56904	broad.mit.edu	37	9	131771467	131771467	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:131771467delG	uc004bwv.2	-	10	1144	c.998delC	c.(997-999)CCTfs	p.P333fs	SH3GLB2_uc004bww.2_Frame_Shift_Del_p.P342fs|SH3GLB2_uc004bwx.1_Frame_Shift_Del_p.P333fs|SH3GLB2_uc011mbm.1_Frame_Shift_Del_p.P342fs	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	333					filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0						CCCACTGGCAGGGGGGGCCAC	0.692												
AMMECR1	9949	broad.mit.edu	37	X	109561246	109561246	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:109561246delG	uc004eoo.2	-	1	135	c.54delC	c.(52-54)CCCfs	p.P18fs	AMMECR1_uc004eop.2_Frame_Shift_Del_p.P18fs|AMMECR1_uc004eoq.2_Intron	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	18											0						CCGAGCCAGAGGGGGGCGAAC	0.672												
BCORL1	63035	broad.mit.edu	37	X	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-	rs137862942		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	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												
GABRD	2563	broad.mit.edu	37	1	1961598	1961598	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:1961597_1961597AG>A	uc001aip.2	+	8	1330	c.1235_1235AG>A	c.(1234-1236)cagfs	p.Q412fs		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	412						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAGGAGGCCAGGGGGGCATC	0.682												
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	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"""							
SERINC2	347735	broad.mit.edu	37	1	31905967	31905969	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:31905966_31905968CCTT>C	uc021okm.1	+	9	1466_1468	c.1193_1195CCTT>C	c.(1192-1197)tccttc>tCtc	p.F400del	SERINC2_uc010ogg.2_In_Frame_Del_p.F395del|SERINC2_uc001bst.3_In_Frame_Del_p.F391del|SERINC2_uc001bsu.3_In_Frame_Del_p.F336del|SERINC2_uc010ogh.2_In_Frame_Del_p.F395del	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	392						integral to membrane				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)		TACAGCTACTCCTTCTTCCACTT	0.616												
GNL2	29889	broad.mit.edu	37	1	38032474	38032475	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:38032473_38032474A>AT	uc001cbk.3	-	15	2341_2342	c.2178_2179T>AT	c.(2176-2181)aaattcfs	p.K726fs		NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	726					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTTTGTCTGAATTTTTTGCGTT	0.351												
ZNF684	127396	broad.mit.edu	37	1	41012528	41012528	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:41012527_41012527GA>G	uc001cft.2	+	4	783	c.532_532GA>G	c.(532-534)gaafs	p.E178fs		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	Homo sapiens zinc finger protein 684 (ZNF684), mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CATTAGACATGAAAAAAATCA	0.338												
PIK3R3	8503	broad.mit.edu	37	1	46521525	46521525	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:46521524_46521524AT>A	uc010olw.2	-	6	1039	c.1022_1022AT>T	c.(1021-1023)atgfs	p.M341fs	PIK3R3_uc001cpb.4_Frame_Shift_Del_p.M295fs|PIK3R3_uc009vyb.3_Intron|PIK3R3_uc009vyc.3_Frame_Shift_Del_p.M312fs|PIK3R3_uc001cpc.4_Frame_Shift_Del_p.M295fs|PIK3R3_uc010olv.2_Frame_Shift_Del_p.M85fs	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	295					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding	p.M295T(2)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GATGCTATTCATTTTTTTATC	0.428												
ZFYVE9	9372	broad.mit.edu	37	1	52705025	52705026	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:52705024_52705025T>TG	uc001cto.3	+	3	2107_2108	c.1935_1936T>TG	c.(1933-1938)aatgggfs	p.N645fs	ZFYVE9_uc001ctn.3_Frame_Shift_Ins_p.N645fs|ZFYVE9_uc001ctp.3_Frame_Shift_Ins_p.N645fs	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	645					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TCGATACAAATGGGGAACATTT	0.401												
NEXN	91624	broad.mit.edu	37	1	78392424	78392424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:78392423_78392423CA>C	uc001dic.4	+	7	1007	c.710_710CA>C	c.(709-711)gcafs	p.A237fs	NEXN_uc001dia.3_Frame_Shift_Del_p.A223fs|NEXN_uc009wcb.1_Frame_Shift_Del_p.A159fs|NEXN_uc001dib.4_Frame_Shift_Del_p.A173fs|NEXN_uc001did.1_Frame_Shift_Del_p.A147fs|NEXN_uc001dif.1_Frame_Shift_Del_p.A129fs	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	237	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAAGTGAAGCAAAAAAAGAA	0.358												
MTF2	22823	broad.mit.edu	37	1	93599280	93599281	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:93599279_93599280G>GA	uc009wdj.3	+	11	1472_1473	c.1180_1181G>GA	c.(1180-1182)gaafs	p.E394fs	MTF2_uc010oth.2_Frame_Shift_Ins_p.E292fs|MTF2_uc009wdk.3_Frame_Shift_Ins_p.E337fs|MTF2_uc010oti.2_Frame_Shift_Ins_p.E292fs|MTF2_uc001dpi.4_Frame_Shift_Ins_p.E121fs|MTF2_uc001dpl.4_Frame_Shift_Ins_p.E292fs|MTF2_uc001dpm.4_Frame_Shift_Ins_p.E63fs	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	Homo sapiens metal response element binding transcription factor 2 (MTF2), transcript variant 1, mRNA.	394						nucleus	DNA binding|zinc ion binding	p.I393T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CAATGGCATAGAAAAAAAAGGA	0.347												
CCDC18	343099	broad.mit.edu	37	1	93720077	93720077	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:93720076_93720076GA>G	uc021opx.1	+	23	3408	c.3247_3247GA>G	c.(3247-3249)gaafs	p.E1083fs	CCDC18_uc001dpr.1_5'UTR	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	1082										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ACAGCTTCGAGAAAAAGAGTT	0.284												
COL11A1	1301	broad.mit.edu	37	1	103474067	103474068	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:103474066_103474067G>GC	uc001dum.3	-	14	1989_1990	c.1671_1672C>GC	c.(1669-1674)gggcctfs	p.G557fs	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Frame_Shift_Ins_p.G545fs|COL11A1_uc001dun.3_Frame_Shift_Ins_p.G506fs|COL11A1_uc009weh.3_Frame_Shift_Ins_p.G429fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	545	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)		GATGAACCAGGCCCCCCCTATA	0.366												
CLCC1	23155	broad.mit.edu	37	1	109479802	109479803	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:109479801_109479802ATC>A	uc021ora.1	-	8	1291_1292	c.1280_1281GAT>T	c.(1279-1281)gatfs	p.D427fs	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Frame_Shift_Del_p.D377fs|CLCC1_uc001dwf.1_Frame_Shift_Del_p.D427fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.D306fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.D242fs	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	427						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TCAAGTCAACATCTCTCTCTCT	0.520												
RBM15	64783	broad.mit.edu	37	1	110882873	110882873	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:110882872_110882872AC>A	uc001dzl.1	+	0	928	c.845_845AC>A	c.(844-846)cacfs	p.H282fs	RBM15_uc001dzm.1_Frame_Shift_Del_p.H282fs|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Frame_Shift_Del_p.H282fs	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	282					interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTCACCGGCACCCCCCTGGA	0.622			T	MKL1	acute megakaryocytic leukemia							
DCLRE1B	64858	broad.mit.edu	37	1	114448226	114448226	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:114448225_114448225TC>T	uc001eeg.3	+	0	311	c.17_17TC>T	c.(16-18)atcfs	p.I6fs	AP4B1_uc001eeb.3_5'Flank|AP4B1_uc001eec.3_5'Flank|AP4B1_uc010owp.2_5'Flank|AP4B1_uc001eed.3_5'Flank|AP4B1_uc010owq.2_5'Flank|DCLRE1B_uc001eeh.3_5'UTR|DCLRE1B_uc001eei.3_5'UTR	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	6					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTCCTGATCCCCCATACG	0.627								Other identified genes with known or suspected DNA repair function				
BCL9	607	broad.mit.edu	37	1	147096667	147096667	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:147096666_147096666TC>T	uc001epq.3	+	9	4927	c.4187_4187TC>T	c.(4186-4188)atcfs	p.I1396fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.I1310fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	1396					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AACATCATGATCCCCCCACAG	0.607			T	"""IGH@, IGL@"""	B-ALL							
ADAMTSL4	54507	broad.mit.edu	37	1	150526176	150526179	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:150526175_150526178TCAGA>T	uc009wlw.3	+	4	866_869	c.708_711TCAGA>T	c.(706-711)gctcagfs	p.A236fs	ADAMTSL4_uc001euw.3_Frame_Shift_Del_p.A236fs|ADAMTSL4_uc001eux.3_Frame_Shift_Del_p.A236fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Del_p.A236fs	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	236					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGAAACTGCTCAGACAGAGGTGG	0.637												
FLG	2312	broad.mit.edu	37	1	152286885	152286885	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:152286884_152286884CT>C	uc001ezu.1	-	2	514	c.478_478AG>G	c.(478-480)gaafs	p.E160fs	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	160					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTTTCTTTCTTTTTTTTCA	0.338									Ichthyosis			
PYGO2	90780	broad.mit.edu	37	1	154932028	154932028	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:154932027_154932027TG>T	uc001fft.3	-	2	655	c.449_449CA>A	c.(448-450)cagfs	p.Q150fs		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	150	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	p.Q150fs*27(4)		endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAGGACCCTGGGGGGGCAT	0.622												
TMEM79	84283	broad.mit.edu	37	1	156255498	156255499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:156255497_156255498G>GC	uc010phi.2	+	1	676_677	c.480_481G>GC	c.(478-483)atgcccfs	p.M160fs	SMG5_uc001foc.4_5'Flank|TMEM79_uc001fod.3_Frame_Shift_Ins_p.M1fs|TMEM79_uc009wrw.3_Frame_Shift_Ins_p.M160fs	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	160						integral to membrane		p.R163fs*17(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GAACCTTCATGCCCCCCCGGGT	0.658												
ARHGEF11	9826	broad.mit.edu	37	1	156914828	156914828	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:156914827_156914827AG>A	uc001fqo.3	-	28	3895	c.2855_2855CT>T	c.(2854-2856)ctgfs	p.L952fs	ARHGEF11_uc010phu.2_Frame_Shift_Del_p.L368fs|ARHGEF11_uc001fqn.3_Frame_Shift_Del_p.L992fs	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	952					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCTGCTGCCAGGGGGTTGCT	0.567												
OR10Z1	128368	broad.mit.edu	37	1	158576398	158576398	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:158576397_158576397AC>A	uc010pio.2	+	0	169	c.169_169AC>A	c.(169-171)accfs	p.T57fs		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCATCTGCACACCCCCATGTA	0.517												
PAPPA2	60676	broad.mit.edu	37	1	176564479	176564479	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:176564478_176564478CG>C	uc001gkz.3	+	2	2902	c.1738_1738CG>C	c.(1738-1740)cggfs	p.R580fs	PAPPA2_uc001gky.1_Frame_Shift_Del_p.R580fs|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	580	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTGCGACACCGGGTTGTGCT	0.582												
DHX9	1660	broad.mit.edu	37	1	182853931	182853932	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:182853930_182853931TTA>T	uc001gpr.3	+	26	3618_3619	c.3443_3444TTA>T	c.(3442-3444)cttfs	p.L1148fs	DHX9_uc001gps.3_Frame_Shift_Del_p.L934fs|DHX9_uc001gpt.3_Frame_Shift_Del_p.L427fs|DHX9_uc009wyd.3_Frame_Shift_Del_p.L113fs	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1148					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GGTATCAACCTTATGATTGGCA	0.446												
CR2	1380	broad.mit.edu	37	1	207642044	207642044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:207642043_207642043TC>T	uc001hfw.3	+	2	736	c.617_617TC>T	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Del_p.V206fs|CR2_uc009xch.3_Frame_Shift_Del_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACA	0.393												
EPRS	2058	broad.mit.edu	37	1	220162105	220162105	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr1:220162104_220162104GT>G	uc001hly.1	-	18	2873	c.2603_2603AC>C	c.(2602-2604)actfs	p.T868fs	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Frame_Shift_Del_p.T619fs|EPRS_uc001hlz.1_Frame_Shift_Del_p.T875fs	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	868	3 X 57 AA approximate repeats.|WHEP-TRS 2.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTCCTTCCCAGTTTTTTCTTT	0.388												
ACP1	52	broad.mit.edu	37	2	277054	277054	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:277053_277053CA>C	uc002qwf.3	+	4	463	c.367_367CA>C	c.(367-369)caafs	p.Q123fs	ACP1_uc002qwg.3_Frame_Shift_Del_p.Q123fs|ACP1_uc002qwh.3_Non-coding_Transcript	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	123						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		CTATGATCCACAAAAACAACT	0.303												
ADCY3	109	broad.mit.edu	37	2	25141477	25141477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:25141476_25141476CT>C	uc010ykm.2	-	0	580	c.381_381AG>G	c.(379-381)aagfs	p.K127fs	ADCY3_uc002rfs.4_Frame_Shift_Del_p.K127fs	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	127					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGAGCAGCCCCTTTTTGCAGA	0.602												
KIF3C	3797	broad.mit.edu	37	2	26203374	26203375	+	In_Frame_Ins	INS	-	-	CTC	rs1062937		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:26203373_26203374T>TCTC	uc002rgu.2	-	0	2070_2071	c.1413_1414A>GAGA	c.(1411-1416)gagaag>gaGAGAag	p.K472R	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_In_Frame_Ins_p.K472R	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	472					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGCTGCCTTCTCCTCCTCCA	0.599												
CGREF1	10669	broad.mit.edu	37	2	27324216	27324217	+	Frame_Shift_Ins	INS	-	-	C	rs113233839	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:27324215_27324216T>TC	uc010eyr.2	-	5	1203_1204	c.1198_1199A>GA	c.(1198-1200)gaafs	p.E400fs	CGREF1_uc010ylf.2_Intron|CGREF1_uc021vez.1_Intron|CGREF1_uc002riq.3_Frame_Shift_Ins_p.E295fs|CGREF1_uc021vfa.1_Frame_Shift_Ins_p.E295fs|CGREF1_uc010eys.2_Frame_Shift_Ins_p.E278fs|CGREF1_uc002rir.2_Frame_Shift_Ins_p.E278fs	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	278					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCAGTGTTTCCCCTGGAAGT	0.550												
EIF2B4	8890	broad.mit.edu	37	2	27591536	27591536	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:27591535_27591535GT>G	uc002rjz.3	-	3	583	c.544_544AC>C	c.(544-546)ccafs	p.P182fs	EIF2B4_uc002rka.3_Frame_Shift_Del_p.P147fs|EIF2B4_uc002rkb.3_Frame_Shift_Del_p.P162fs|EIF2B4_uc002rkc.3_Frame_Shift_Del_p.P161fs|EIF2B4_uc002rke.3_Frame_Shift_Del_p.P131fs|EIF2B4_uc002rkf.1_Frame_Shift_Del_p.P131fs|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_172195	NP_751945	Q9UI10	EI2BD_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa (EIF2B4), transcript variant 1, mRNA.	162					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACGCTCTGGTTTTTTAACA	0.488												
NRBP1	29959	broad.mit.edu	37	2	27658018	27658019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:27658017_27658018A>AC	uc002rko.3	+	7	1416_1417	c.584_585A>AC	c.(583-585)gacfs	p.D195fs	NRBP1_uc002rkp.3_Frame_Shift_Ins_p.D195fs|NRBP1_uc002rkr.3_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	195	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACTCCTGTGACCCCCCCATCA	0.589												
PPM1B	5495	broad.mit.edu	37	2	44445212	44445212	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:44445211_44445211CT>C	uc002rtt.3	+	3	1498	c.1070_1070CT>C	c.(1069-1071)gctfs	p.A357fs	PPM1B_uc002rtu.3_Frame_Shift_Del_p.A357fs|PPM1B_uc002rtv.3_Frame_Shift_Del_p.A70fs|PPM1B_uc002rtw.3_Frame_Shift_Del_p.A357fs|PPM1B_uc002rtx.3_Frame_Shift_Del_p.A357fs	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	357					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)				GGAGGTCTTGCTGGCAAGTAA	0.383												
MTIF2	4528	broad.mit.edu	37	2	55489457	55489457	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:55489456_55489456GT>G	uc002ryn.3	-	5	1064	c.327_327AC>C	c.(325-327)aacfs	p.N109fs	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Frame_Shift_Del_p.N109fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ACTCACCTGTGTTTTTTTCCA	0.363												
ATP6V1B1	525	broad.mit.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CCDC142	84865	broad.mit.edu	37	2	74708466	74708466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:74708465_74708465AC>A	uc002slr.3	-	2	1536	c.1143_1143GT>T	c.(1141-1143)ggtfs	p.G381fs	TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Frame_Shift_Del_p.G381fs|CCDC142_uc002slp.2_Frame_Shift_Del_p.G381fs	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	381										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GGCTGCTCTGACCCCCAAGAG	0.562												
RANBP2	5903	broad.mit.edu	37	2	109380652	109380652	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:109380651_109380651TA>T	uc002tem.4	+	19	3782	c.3656_3656TA>T	c.(3655-3657)gtafs	p.V1219fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1219	RanBD1 1.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTGGCAATGTAAAAATACTG	0.383												
CLASP1	23332	broad.mit.edu	37	2	122125358	122125359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:122125357_122125358A>AC	uc002tnc.3	-	33	4079_4080	c.3689_3690T>GT	c.(3688-3690)ggtfs	p.G1230fs	CLASP1_uc010yyv.2_Frame_Shift_Ins_p.G277fs|CLASP1_uc002tmz.3_Frame_Shift_Ins_p.G316fs|CLASP1_uc002tna.3_Frame_Shift_Ins_p.G277fs|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Frame_Shift_Ins_p.G1171fs|CLASP1_uc010yza.2_Frame_Shift_Ins_p.G1163fs|CLASP1_uc021vnl.1_Frame_Shift_Ins_p.G1169fs|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tmy.3_Frame_Shift_Ins_p.G67fs|CLASP1_uc002tnf.3_Frame_Shift_Ins_p.G133fs	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	1231					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTACTTCACTACCCCCCCGGCC	0.634												
SAP130	79595	broad.mit.edu	37	2	128699613	128699614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:128699612_128699613C>CT	uc010fmd.2	-	20	3351_3352	c.3219_3220G>AG	c.(3217-3222)aaagtgfs	p.K1073fs	SAP130_uc002tpn.2_Frame_Shift_Ins_p.K798fs|SAP130_uc002tpp.2_Frame_Shift_Ins_p.K1038fs	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	1038					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AATTTGGACACTTTTTTGACAG	0.431												
SPOPL	339745	broad.mit.edu	37	2	139316720	139316720	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:139316719_139316719GT>G	uc002tvh.3	+	5	1008	c.608_608GT>G	c.(607-609)agtfs	p.S203fs		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	203	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ACAGACTGCAGTTTTTTCGTG	0.343												
XIRP2	129446	broad.mit.edu	37	2	168103737	168103737	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:168103736_168103736TA>T	uc002udx.3	+	8	5923	c.5834_5834TA>T	c.(5833-5835)atafs	p.I1945fs	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Del_p.I1770fs|XIRP2_uc010fpq.3_Frame_Shift_Del_p.I1723fs|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1770					actin cytoskeleton organization	cell junction	actin binding	p.V1944I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAGGTGTAATAAAAAAAGAT	0.388												
TTN	7273	broad.mit.edu	37	2	179431363	179431364	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:179431362_179431363GGT>G	uc021vsy.1	-	274	72017_72018	c.71792_71793ACC>C	c.(71791-71793)accfs	p.T23931fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.T17626fs|TTN_uc021vta.1_Frame_Shift_Del_p.T17559fs|TTN_uc021vtb.1_Frame_Shift_Del_p.T17434fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24858	Ig-like 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTTTAGTGGTGTCTACAAT	0.450												
CASP8	841	broad.mit.edu	37	2	202151290	202151290	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:202151289_202151289GA>G	uc002uxr.1	+	9	1621	c.1412_1412GA>G	c.(1411-1413)agafs	p.R471fs	CASP8_uc002uxq.1_Frame_Shift_Del_p.R456fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.R488fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.R530fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.R456fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.R387fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	471					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			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTCACACTAAGAAAAAAACTT	0.398										HNSCC(4;0.00038)		
MAP2	4133	broad.mit.edu	37	2	210574802	210574803	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:210574801_210574802C>CA	uc002vde.1	+	11	5144_5145	c.4896_4897C>CA	c.(4894-4899)cccaagfs	p.P1632fs	MAP2_uc002vdd.1_Frame_Shift_Ins_p.P333fs|MAP2_uc002vdf.1_Frame_Shift_Ins_p.P276fs|MAP2_uc002vdg.1_Frame_Shift_Ins_p.P276fs|MAP2_uc002vdh.1_Frame_Shift_Ins_p.P333fs|MAP2_uc002vdi.1_Frame_Shift_Ins_p.P1628fs	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1632					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAGGAACCCCCAAGTCTGCCAT	0.559												
AGAP1	116987	broad.mit.edu	37	2	236649677	236649677	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr2:236649676_236649676GC>G	uc002vvs.3	+	3	978	c.380_380GC>G	c.(379-381)ggcfs	p.G127fs	AGAP1_uc002vvt.3_Frame_Shift_Del_p.G127fs|AGAP1_uc021vyp.1_Frame_Shift_Del_p.G127fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	127	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.G127A(2)|p.G127G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GATGAAGGGGGCCCCCCGGAG	0.488												
CHL1	10752	broad.mit.edu	37	3	440036	440036	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:440035_440035AT>A	uc003bot.3	+	24	3862	c.3220_3220AT>A	c.(3220-3222)attfs	p.I1074fs	CHL1_uc003bou.3_Frame_Shift_Del_p.I1058fs|CHL1_uc003bow.2_Frame_Shift_Del_p.I1058fs|CHL1_uc011asi.2_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1058					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.S1073N(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAATGATAGCATTTTTCAAGA	0.383												
ITPR1	3708	broad.mit.edu	37	3	4732999	4733000	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:4732998_4732999T>TA	uc003bqc.3	+	30	4304_4305	c.3954_3955T>TA	c.(3952-3957)attaaafs	p.I1318fs	ITPR1_uc021wsi.1_Frame_Shift_Ins_p.I1324fs|ITPR1_uc021wsj.1_Frame_Shift_Ins_p.I1309fs|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1333					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			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGAAATTTATTAAAAAATGCCA	0.356												
OXNAD1	92106	broad.mit.edu	37	3	16336481	16336482	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:16336480_16336481T>TC	uc011awb.2	+	4	582_583	c.462_463T>TC	c.(460-465)cctcctfs	p.P154fs	OXNAD1_uc010her.2_Non-coding_Transcript|OXNAD1_uc003caw.3_Frame_Shift_Ins_p.P136fs|OXNAD1_uc003cax.3_Frame_Shift_Ins_p.P136fs	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	Homo sapiens oxidoreductase NAD-binding domain containing 1 (OXNAD1), mRNA.	136	FAD-binding FR-type.						oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						CGAACCACCCTCCTGCCCTCTG	0.465												
EFHB	151651	broad.mit.edu	37	3	19921203	19921205	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:19921202_19921204TCTC>T	uc003cbl.4	-	12	2617_2619	c.2421_2423GAGA>A	c.(2419-2424)ggagaa>ggAa	p.E808del	EFHB_uc003cbm.3_In_Frame_Del_p.E678del	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	808					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AACACAAACTTCTCCTCTGTGAT	0.360												
NR1D2	9975	broad.mit.edu	37	3	23996272	23996272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:23996271_23996271CA>C	uc003ccs.2	+	1	579	c.260_260CA>C	c.(259-261)acafs	p.T87fs	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Frame_Shift_Del_p.T12fs	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	87					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CCTGGGATGACAAAAAGTCAT	0.368												
ZNF35	7584	broad.mit.edu	37	3	44700763	44700764	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:44700762_44700763G>GA	uc003cnq.3	+	3	1128_1129	c.907_908G>GA	c.(907-909)gaafs	p.E303fs	ZNF35_uc003cnr.3_Frame_Shift_Ins_p.E143fs	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	303					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCACTCCTTAGAAAAAACTTTT	0.391												
APEH	327	broad.mit.edu	37	3	49719319	49719319	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:49719318_49719318AG>A	uc010hkw.1	+	17	1923	c.1523_splice	c.e17-2	p.G508_splice	APEH_uc003cxf.3_Splice_Site_p.G508_splice	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	508					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTGTCTGCAGGGGGGCCCC	0.607												
RBM6	10180	broad.mit.edu	37	3	50005145	50005146	+	Frame_Shift_Ins	INS	-	-	G	rs141234052		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:50005144_50005145A>AG	uc003cyc.3	+	2	534_535	c.286_287A>AG	c.(286-288)aggfs	p.R96fs	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	96					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495												
ROBO1	6091	broad.mit.edu	37	3	78666874	78666874	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:78666873_78666873GA>G	uc003dqe.2	-	26	4402	c.4194_4194TC>C	c.(4192-4194)ttcfs	p.F1398fs	ROBO1_uc003dqc.2_Frame_Shift_Del_p.F1298fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.F1353fs|ROBO1_uc003dqb.2_Frame_Shift_Del_p.F1359fs|ROBO1_uc010hoh.2_Frame_Shift_Del_p.F590fs|ROBO1_uc011bgl.1_Frame_Shift_Del_p.F970fs	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1398					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGCATCAGTGAAAAAGGAGC	0.567												
FAM55C	91775	broad.mit.edu	37	3	101525973	101525973	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	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												
POLQ	10721	broad.mit.edu	37	3	121238933	121238933	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:121238932_121238932TA>T	uc003eee.4	-	9	1385	c.1256_splice	c.e9-1	p.G419_splice		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	419	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGTAAGACCTAAAAAAAGGA	0.373								DNA polymerases (catalytic subunits)				
PSMD2	5708	broad.mit.edu	37	3	184021113	184021113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr3:184021112_184021112TG>T	uc003fnn.1	+	8	1107	c.1074_1074TG>T	c.(1072-1074)tttfs	p.F358fs	PSMD2_uc011brj.1_Frame_Shift_Del_p.F199fs|PSMD2_uc011brk.1_Frame_Shift_Del_p.F228fs	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	358					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TTGCAGGGTTTGGGGGCAGTG	0.512												
SLIT2	9353	broad.mit.edu	37	4	20512140	20512141	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:20512139_20512140CAA>C	uc003gpr.1	+	9	1140_1141	c.936_937CAA>C	c.(934-939)atcaaafs	p.I312fs	SLIT2_uc003gps.1_Frame_Shift_Del_p.I312fs	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	312					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.T311T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGAACACAATCAAAGTCATCCC	0.332												
RBPJ	3516	broad.mit.edu	37	4	26426019	26426022	+	Frame_Shift_Del	DEL	AGTT	AGTT	-	rs75014045	by1000genomes	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:26426018_26426021CAGTT>C	uc003grx.2	+	6	826_829	c.590_593CAGTT>C	c.(589-594)acagttfs	p.T197fs	RBPJ_uc003gry.2_Frame_Shift_Del_p.T182fs|RBPJ_uc003grz.2_Frame_Shift_Del_p.T197fs|RBPJ_uc011bxt.2_Frame_Shift_Del_p.T197fs|RBPJ_uc003gsa.2_Frame_Shift_Del_p.T183fs|RBPJ_uc003gsb.2_Frame_Shift_Del_p.T184fs	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	197					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CGATCCCAGACAGTTAGTACCAGA	0.412												
UGT2B4	7363	broad.mit.edu	37	4	70346622	70346623	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:70346621_70346622CTT>C	uc003hek.4	-	5	1364_1365	c.1317_1318AAG>G	c.(1315-1320)aaagagfs	p.K439fs	UGT2B4_uc011cap.2_Frame_Shift_Del_p.K303fs|UGT2B4_uc003hel.4_Frame_Shift_Del_p.K366fs	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	439					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATAGCATTCTCTTTATATCTAA	0.421												
ENAM	10117	broad.mit.edu	37	4	71508435	71508436	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:71508434_71508435G>GA	uc011caw.1	+	8	1572_1573	c.1291_1292G>GA	c.(1291-1293)gaafs	p.E431fs		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	431					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGTTCGCAATGAAAAAATCCAA	0.465												
RUFY3	22902	broad.mit.edu	37	4	71660548	71660550	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:71660547_71660549AAAG>A	uc003hfr.3	+	13	2088_2090	c.1493_1495AAAG>A	c.(1492-1497)gaaaga>gAga	p.R500del	RUFY3_uc011cay.2_In_Frame_Del_p.R436del	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	335					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CAGGAAAAAGAAAGAAGATTACA	0.369												
IL21	59067	broad.mit.edu	37	4	123536892	123536892	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:123536891_123536891CT>C	uc003ies.2	-	2	351	c.306_306AG>G	c.(304-306)aagfs	p.K102fs	IL21_uc010int.3_Frame_Shift_Del_p.K102fs	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	95					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCCTCTTCAGCTTTTTAATTG	0.368												
PCDH10	57575	broad.mit.edu	37	4	134071649	134071649	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:134071648_134071648AC>A	uc003iha.3	+	0	1179	c.353_353AC>A	c.(352-354)aacfs	p.N118fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Del_p.N118fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	118	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S121fs*13(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTAATGACAACCCCCCCTCT	0.602												
FHDC1	85462	broad.mit.edu	37	4	153864507	153864507	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:153864506_153864506CT>C	uc003inf.2	+	0	372	c.297_297CT>C	c.(295-297)agcfs	p.S99fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	99	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGATGAGAAGCTTTTTTTGGA	0.512												
RXFP1	59350	broad.mit.edu	37	4	159568123	159568124	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:159568122_159568123G>GA	uc003ipz.3	+	15	1788_1789	c.1525_1526G>GA	c.(1525-1527)gaafs	p.E509fs	RXFP1_uc010iqk.3_Frame_Shift_Ins_p.E377fs|RXFP1_uc011cja.2_Frame_Shift_Ins_p.E404fs|RXFP1_uc010iqo.3_Frame_Shift_Ins_p.E461fs|RXFP1_uc011cjb.2_Frame_Shift_Ins_p.E407fs|RXFP1_uc011cjc.2_Frame_Shift_Ins_p.E428fs|RXFP1_uc011cjd.2_Frame_Shift_Ins_p.E428fs|RXFP1_uc010iql.3_Frame_Shift_Ins_p.E353fs|RXFP1_uc011cje.2_Frame_Shift_Ins_p.E536fs|RXFP1_uc010iqm.3_Frame_Shift_Ins_p.E476fs|RXFP1_uc011cjf.2_Frame_Shift_Ins_p.E378fs|RXFP1_uc010iqn.3_Frame_Shift_Ins_p.E454fs	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	509						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.E509K(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCTGACATTGGAAAAATACATC	0.386												
FNIP2	57600	broad.mit.edu	37	4	159789801	159789802	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:159789800_159789801T>TG	uc003iqe.4	+	12	2195_2196	c.2012_2013T>TG	c.(2011-2013)ttgfs	p.L671fs		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	671	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TGTGAAGTTTTGGGGGCAGGAA	0.520												
GALNTL6	442117	broad.mit.edu	37	4	173961169	173961170	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:173961168_173961169CCT>C	uc003isv.3	+	12	2459_2460	c.1723_1724CCT>C	c.(1723-1725)cctfs	p.P575fs		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	575	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CAGATGTGACCCTCTCTCTGAG	0.426												
FAT1	2195	broad.mit.edu	37	4	187541247	187541247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:187541246_187541246GA>G	uc003izf.3	-	9	6682	c.6494_6494TC>C	c.(6493-6495)tcafs	p.S2165fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2165	Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AACTTCCGCTGAAAAGGCCGG	0.423										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187541324	187541324	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr4:187541323_187541323CT>C	uc003izf.3	-	9	6605	c.6417_6417AG>G	c.(6415-6417)aagfs	p.K2139fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2139	Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTCAAATTGCTTTTTCAGTG	0.423										HNSCC(5;0.00058)		
SLC12A7	10723	broad.mit.edu	37	5	1074698	1074698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:1074697_1074697TG>T	uc003jbu.3	-	15	2123	c.2057_2057CA>A	c.(2056-2058)cacfs	p.H686fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	686					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTTCTTGGTGTGGGGGGGACC	0.647												
TRIO	7204	broad.mit.edu	37	5	14462953	14462953	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:14462952_14462952AG>A	uc003jff.3	+	35	5591	c.5585_5585AG>A	c.(5584-5586)gagfs	p.E1862fs	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Frame_Shift_Del_p.E1511fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1862					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GAAGGCGAGGAGGGGGCCGAC	0.637												
ERBB2IP	55914	broad.mit.edu	37	5	65370920	65370921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:65370919_65370920A>AC	uc003juk.2	+	22	4134_4135	c.3824_3825A>AC	c.(3823-3825)cacfs	p.H1275fs	ERBB2IP_uc011cqx.2_Frame_Shift_Ins_p.H1282fs|ERBB2IP_uc003jui.2_Frame_Shift_Ins_p.H1234fs|ERBB2IP_uc003jul.2_Frame_Shift_Ins_p.H1230fs|ERBB2IP_uc011cqy.2_Frame_Shift_Ins_p.H1234fs|ERBB2IP_uc003juj.2_Intron|ERBB2IP_uc011cqz.2_Frame_Shift_Ins_p.H473fs|ERBB2IP_uc010iwx.2_Frame_Shift_Ins_p.H1278fs	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	1275					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAAATACATCACCCCCCTCAGG	0.455												
CMYA5	202333	broad.mit.edu	37	5	79031458	79031458	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:79031457_79031457GA>G	uc003kgc.3	+	1	6941	c.6869_6869GA>G	c.(6868-6870)ggafs	p.G2290fs		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2290						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAGATTATGGAAAAAAAGAA	0.343												
SSBP2	23635	broad.mit.edu	37	5	80932421	80932421	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:80932420_80932420GT>G	uc003khp.3	-	2	364	c.153_153AC>C	c.(151-153)aacfs	p.N51fs	SSBP2_uc003khn.3_5'UTR|SSBP2_uc011ctr.2_Frame_Shift_Del_p.N51fs|SSBP2_uc003kho.3_Frame_Shift_Del_p.N51fs|SSBP2_uc011ctp.2_Frame_Shift_Del_p.N51fs|SSBP2_uc011ctq.2_Frame_Shift_Del_p.N51fs	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	51					regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CCAATGTGATGTTTTTTTCCC	0.318												
ERAP2	64167	broad.mit.edu	37	5	96224963	96224963	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:96224962_96224962AT>A	uc003kmq.3	+	4	1633	c.923_923AT>A	c.(922-924)gatfs	p.D308fs	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Frame_Shift_Del_p.D308fs|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Frame_Shift_Del_p.D257fs|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	308					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AAGCTACTTGATTTTTATGAA	0.373												
FBN2	2201	broad.mit.edu	37	5	127681221	127681221	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:127681220_127681220CG>C	uc003kuu.3	-	23	3485	c.3046_3046CG>G	c.(3046-3048)gttfs	p.V1016fs	FBN2_uc003kuv.2_Frame_Shift_Del_p.V983fs	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1016	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTCCAGGAACGGGGTGGATG	0.532												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
PSD2	84249	broad.mit.edu	37	5	139193288	139193288	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:139193287_139193287AG>A	uc003leu.1	+	2	970	c.765_765AG>A	c.(763-765)ccafs	p.P255fs		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	255					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATG	0.617												
SLC35A4	113829	broad.mit.edu	37	5	139947265	139947265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:139947264_139947264TC>T	uc003lgg.1	+	2	1238	c.510_510TC>T	c.(508-510)agtfs	p.S170fs	SLC35A4_uc003lgh.1_Frame_Shift_Del_p.S170fs|SLC35A4_uc021yei.1_Frame_Shift_Del_p.S170fs	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	Homo sapiens solute carrier family 35, member A4 (SLC35A4), mRNA.	170	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTTCCCAGTCCCCCTCCAG	0.632												
PCDHAC2	56134	broad.mit.edu	37	5	140255609	140255609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:140255608_140255608CA>C	uc003lic.2	+	0	678	c.551_551CA>C	c.(550-552)acafs	p.T184fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Frame_Shift_Del_p.T184fs	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	199	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.Q183H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATAAAAACAAAAAAAGAT	0.368												
SYNPO	11346	broad.mit.edu	37	5	150028582	150028582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:150028581_150028581AG>A	uc003lsn.3	+	2	1850	c.1476_1476AG>A	c.(1474-1476)ccafs	p.P492fs	SYNPO_uc021yfu.1_Frame_Shift_Del_p.P492fs|SYNPO_uc003lso.4_Frame_Shift_Del_p.P248fs|SYNPO_uc003lsp.3_Frame_Shift_Del_p.P248fs|SYNPO_uc021yfv.1_Frame_Shift_Del_p.P248fs	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	492					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGGCGCCAGGGGGCACCA	0.642												
TRIM41	90933	broad.mit.edu	37	5	180661717	180661718	+	Frame_Shift_Del	DEL	GT	GT	-	rs145706667		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr5:180661716_180661717CGT>C	uc003mne.2	+	5	2571_2572	c.1834_1835CGT>C	c.(1834-1836)cgtfs	p.R612fs	TRIM41_uc003mnc.2_3'UTR|TRIM41_uc003mnd.2_Intron|TRIM41_uc003mnf.2_Intron|TRIM41_uc003mng.1_Frame_Shift_Del_p.R192fs	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	612	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|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)			CCTGGGCGAGCGTGTCTTTCCT	0.609												
JARID2	3720	broad.mit.edu	37	6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:15496721_15496721TG>T	uc003nbj.3	+	6	1509	c.1265_1265TG>T	c.(1264-1266)gtgfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.2_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	422					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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACTAAGGAGGTGGGGGGGCGG	0.667												
JARID2	3720	broad.mit.edu	37	6	15513220	15513220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:15513219_15513219CA>C	uc003nbj.3	+	14	3453	c.3209_3209CA>C	c.(3208-3210)gcafs	p.A1070fs	JARID2_uc011div.2_Frame_Shift_Del_p.A898fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1070					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	p.E1069K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAAGCAGAAGCAAAAAAAGAA	0.517												
HIST1H2BG	8339	broad.mit.edu	37	6	26216833	26216835	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:26216832_26216834CCTT>C	uc003ngz.2	-	0	39_41	c.38_40AAGG>G	c.(37-42)aagggt>aGgt	p.13_14KG>R	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bg (HIST1H2BG), mRNA.	13					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTCTTGGAACCCTTCTTCGGAGC	0.488												
HLA-A	3105	broad.mit.edu	37	6	29912156	29912156	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:29912155_29912155GC>G	uc003nol.3	+	3	960	c.876_876GC>G	c.(874-876)aagfs	p.K292fs	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Frame_Shift_Del_p.K292fs|HLA-A_uc010jrq.3_Frame_Shift_Del_p.K171fs|HLA-A_uc003nok.3_Frame_Shift_Del_p.K171fs|HLA-A_uc010klp.2_Frame_Shift_Del_p.K264fs|HLA-A_uc011dmc.2_Frame_Shift_Del_p.K171fs|HLA-A_uc011dmd.2_Frame_Shift_Del_p.K171fs|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	292	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTCTGCCCAAGCCCCTCACCC	0.602									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)		
DHX16	8449	broad.mit.edu	37	6	30622578	30622581	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:30622577_30622580ACTGT>A	uc003nqz.3	-	18	3112_3115	c.2900_2903ACAGT>T	c.(2899-2904)acagtcfs	p.T967fs	DHX16_uc003nqy.3_Frame_Shift_Del_p.T486fs|DHX16_uc011dmo.2_Frame_Shift_Del_p.T907fs	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	967					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						ATGAATGAAGACTGTCTGCTGCTG	0.529												
ZBTB12	221527	broad.mit.edu	37	6	31868388	31868388	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:31868387_31868387AC>A	uc003nyd.1	-	1	872	c.696_696GT>T	c.(694-696)ggtfs	p.G232fs	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Frame_Shift_Del_p.G232fs|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	232	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CAATGCCCAGACCCCCTCCCA	0.662												
CYP21A2	1589	broad.mit.edu	37	6	32007960	32007960	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:32007959_32007959GT>G	uc003nze.2	+	6	1023	c.916_916GT>G	c.(916-918)gttfs	p.V306fs	CYP21A2_uc003nzf.2_Frame_Shift_Del_p.V276fs	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	305					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CTGGGCCGTGGTTTTTTTGCT	0.622												
RGL2	5863	broad.mit.edu	37	6	33263965	33263966	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:33263964_33263965G>GC	uc003odv.3	-	5	1168_1169	c.608_609C>GC	c.(607-609)ggcfs	p.G203fs	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_Intron|RGL2_uc003odw.3_Frame_Shift_Ins_p.G121fs|RGL2_uc011drb.2_Frame_Shift_Ins_p.G121fs	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	203	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGTCAGCGCTGCCCCCCCCAAC	0.653												
FANCE	2178	broad.mit.edu	37	6	35423794	35423794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:35423793_35423793TG>T	uc003oko.1	+	1	703	c.518_518TG>T	c.(517-519)ctgfs	p.L173fs	FANCE_uc010jvw.1_Frame_Shift_Del_p.L173fs	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	173	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						GGGCTGGGCCTGGGGGGCAGG	0.592			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
TRERF1	55809	broad.mit.edu	37	6	42236161	42236161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:42236160_42236160AG>A	uc003ose.2	-	4	1732	c.1169_1169CT>T	c.(1168-1170)ctcfs	p.L390fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.L390fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.L229fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.L229fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.L390fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	390	Gln-rich.				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|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCTGGTAGAGGGGGTGGCT	0.607												
MUT	4594	broad.mit.edu	37	6	49427151	49427151	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:49427150_49427150TA>T	uc003ozg.4	-	1	295	c.30_30TA>A	c.(28-30)ttafs	p.L10fs		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	10					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGTGAAAGTAAAAAAAGCT	0.413												
RARS2	57038	broad.mit.edu	37	6	88229955	88229955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:88229954_88229954CT>C	uc003pme.3	-	12	1116	c.1056_1056AG>G	c.(1054-1056)aagfs	p.K352fs	RARS2_uc003pmc.3_Frame_Shift_Del_p.K177fs|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	352					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0456)		GCTGAAAATGCTTTTTTTGTC	0.328												
POU3F2	5454	broad.mit.edu	37	6	99284028	99284028	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:99284027_99284027CG>C	uc003ppe.3	+	0	1448	c.1278_1278CG>C	c.(1276-1278)tacfs	p.Y426fs		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	426					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AGGATGTGTACGGGGGGAGTA	0.637												
SLC22A16	85413	broad.mit.edu	37	6	110746117	110746117	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:110746116_110746116GT>G	uc003puf.3	-	7	1761	c.1694_1694AC>C	c.(1693-1695)acgfs	p.T565fs	SLC22A16_uc003pue.3_Frame_Shift_Del_p.T546fs	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	565					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		AATCGCTTCCGTTTTTTCCAG	0.428												
FAM184A	79632	broad.mit.edu	37	6	119324113	119324113	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:119324112_119324112AT>A	uc003pyj.3	-	8	2388	c.2040_2040AT>T	c.(2038-2040)aatfs	p.N680fs	FAM184A_uc003pyk.4_Frame_Shift_Del_p.N560fs|FAM184A_uc003pyl.4_Frame_Shift_Del_p.N560fs	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	680										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTCTTGCTGCATTTTTCTCTC	0.373												
ALDH8A1	64577	broad.mit.edu	37	6	135239640	135239640	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:135239639_135239639TC>T	uc003qew.3	-	6	1447	c.1378_1378GA>A	c.(1378-1380)atgfs	p.M460fs	ALDH8A1_uc011ecx.2_Frame_Shift_Del_p.M410fs|ALDH8A1_uc003qex.3_Frame_Shift_Del_p.M406fs|ALDH8A1_uc010kgh.3_Frame_Shift_Del_p.M238fs	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	460					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GAACTCTTCATCCCCCCGAAA	0.522												
STXBP5	134957	broad.mit.edu	37	6	147680408	147680408	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:147680407_147680407TC>T	uc003qlz.3	+	22	2668	c.2493_2493TC>T	c.(2491-2493)cttfs	p.L831fs	STXBP5_uc010khz.2_Frame_Shift_Del_p.L795fs|STXBP5_uc003qly.3_Frame_Shift_Del_p.L486fs	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	831					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)		CACTGAACCTTCCCCCAGGGG	0.468												
PLG	5340	broad.mit.edu	37	6	161132210	161132211	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr6:161132209_161132210T>TC	uc003qtm.4	+	3	505_506	c.393_394T>TC	c.(391-396)tctcccfs	p.S131fs	PLG_uc021zhr.1_Frame_Shift_Ins_p.S131fs	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	131	Kringle 1.				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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				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)	GTTCCACTTCTCCCCACAGACC	0.460												
C7orf50	84310	broad.mit.edu	37	7	1037311	1037312	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:1037310_1037311AGG>A	uc003sju.2	-	4	605_606	c.535_536CCT>T	c.(535-537)ctgfs	p.L179fs	C7orf50_uc011jvt.1_Frame_Shift_Del_p.L179fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.L179fs	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	Homo sapiens chromosome 7 open reading frame 50 (C7orf50), transcript variant 1, mRNA.	179							protein binding	p.L179fs*>17(2)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCTCCCCGGCAGGGGGGGATCA	0.723												
ITGB8	3696	broad.mit.edu	37	7	20371450	20371451	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:20371449_20371450C>CT	uc003suu.3	+	0	725_726	c.20_21C>CT	c.(19-21)gctfs	p.A7fs	ITGB8_uc011jyh.2_Intron|ITGB8_uc003sut.3_Frame_Shift_Ins_p.A7fs	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	7					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCGGCCCTGGCTTTTTTTACCG	0.668												
C7orf10	79783	broad.mit.edu	37	7	40899962	40899963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:40899961_40899962G>GC	uc022acd.1	+	14	1323_1324	c.1299_1300G>GC	c.(1297-1302)ccgcccfs	p.P433fs	C7orf10_uc003thn.2_Frame_Shift_Ins_p.P407fs|C7orf10_uc003tho.2_Frame_Shift_Ins_p.P359fs|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	407							transferase activity	p.R432M(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569												
SAMD9	54809	broad.mit.edu	37	7	92735258	92735259	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:92735257_92735258C>CT	uc003umf.3	-	2	423_424	c.153_154G>AG	c.(151-156)aaagaafs	p.K51fs	SAMD9_uc003umg.3_Frame_Shift_Ins_p.K51fs|SAMD9_uc022ahg.1_Frame_Shift_Ins_p.K51fs	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	51	SAM.					cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAAGATGTTCTTTTTTTAACC	0.366												
GAL3ST4	79690	broad.mit.edu	37	7	99758316	99758316	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:99758315_99758315TG>T	uc003utt.3	-	2	1714	c.697_697CA>A	c.(697-699)agafs	p.R233fs	C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Frame_Shift_Del_p.R171fs|GAL3ST4_uc003utu.3_Frame_Shift_Del_p.R233fs	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	233					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.R233fs*36(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGGGGTCTCTGGGGGGATGA	0.587												
ZCWPW1	55063	broad.mit.edu	37	7	100017294	100017294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:100017293_100017293CT>C	uc003uut.3	-	3	490	c.242_242AG>G	c.(241-243)agafs	p.R81fs	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Frame_Shift_Del_p.R80fs|ZCWPW1_uc003uuu.1_Frame_Shift_Del_p.R80fs|ZCWPW1_uc011kjt.1_Frame_Shift_Del_p.R80fs|ZCWPW1_uc011kju.1_Frame_Shift_Del_p.R80fs	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	81							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGTGCCTTTCTTTTTTTCTC	0.453												
CUX1	1523	broad.mit.edu	37	7	101870751	101870751	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:101870750_101870750TC>T	uc003uys.4	+	20	3394	c.3267_3267TC>T	c.(3265-3267)tgtfs	p.C1089fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Del_p.C1078fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1078					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCAGCCCTGTCCCCCCATCG	0.662												
WNT16	51384	broad.mit.edu	37	7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537												
ZNF800	168850	broad.mit.edu	37	7	127013759	127013759	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:127013758_127013758CT>C	uc010lla.2	-	4	2344	c.1632_1632AG>G	c.(1630-1632)aagfs	p.K544fs	ZNF800_uc003vlw.1_Frame_Shift_Del_p.K447fs|ZNF800_uc003vlx.1_Frame_Shift_Del_p.K544fs|ZNF800_uc003vly.1_Frame_Shift_Del_p.K544fs	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	544					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						AACGAGATGACTTTTTATGAA	0.343												
KCNH2	3757	broad.mit.edu	37	7	150656679	150656679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr7:150656678_150656678TG>T	uc003wic.3	-	2	855	c.454_454CA>A	c.(454-456)accfs	p.T152fs	KCNH2_uc011kux.2_Frame_Shift_Del_p.T56fs|KCNH2_uc003wie.3_Frame_Shift_Del_p.T152fs	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	152					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	p.T152fs*180(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	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)	AGCCAGCTGGTGGGGGGGCCC	0.592												
DLC1	10395	broad.mit.edu	37	8	12957359	12957359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:12957358_12957358AG>A	uc003wwm.2	-	8	2932	c.2488_2488CT>T	c.(2488-2490)tcgfs	p.S830fs	DLC1_uc003wwk.1_Frame_Shift_Del_p.S393fs|DLC1_uc003wwl.1_Frame_Shift_Del_p.S427fs|DLC1_uc011kxx.1_Frame_Shift_Del_p.S319fs	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	830					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTATTCCCCGAGGGGGAGAAA	0.577												
ADAM28	10863	broad.mit.edu	37	8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:24167472_24167473G>GA	uc003xdy.3	+	2	299_300	c.216_217G>GA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332												
RGS20	8601	broad.mit.edu	37	8	54791966	54791966	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:54791965_54791965TC>T	uc003xrp.3	+	1	405	c.313_313TC>T	c.(313-315)tccfs	p.S105fs	RGS20_uc003xrq.3_Intron|RGS20_uc010lye.3_Intron|RGS20_uc010lyf.3_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.3_5'Flank|RGS20_uc003xrt.3_5'Flank	NM_170587	NP_733466	O76081	RGS20_HUMAN	Homo sapiens regulator of G-protein signaling 20 (RGS20), transcript variant 1, mRNA.	105					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CCTGGACTTCTCCCCCCTGCT	0.731												
ARFGEF1	10565	broad.mit.edu	37	8	68128856	68128857	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:68128855_68128856T>TG	uc003xxo.2	-	32	5045_5046	c.4655_4656A>CA	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.2_Frame_Shift_Ins_p.P535fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421												
ZFHX4	79776	broad.mit.edu	37	8	77617140	77617140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:77617139_77617139GA>G	uc003yau.2	+	1	1203	c.816_816GA>G	c.(814-816)gggfs	p.G272fs	ZFHX4_uc003yat.1_Frame_Shift_Del_p.G272fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.G272fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	272						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTAGCGATGGGAAAAGGAAAC	0.423										HNSCC(33;0.089)		
EEF1D	1936	broad.mit.edu	37	8	144663327	144663327	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:144663326_144663326TG>T	uc003yyq.2	-	5	1767	c.1538_splice	c.e5-1	p.V513_splice	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Splice_Site_p.V439_splice|EEF1D_uc011lki.2_Splice_Site_p.V97_splice|EEF1D_uc003yyv.3_Splice_Site_p.V73_splice|EEF1D_uc003yyu.3_Splice_Site_p.V97_splice|EEF1D_uc011lkk.2_Splice_Site_p.V97_splice|EEF1D_uc003yyt.3_Splice_Site_p.V463_splice|EEF1D_uc003yyr.3_Splice_Site_p.V463_splice|EEF1D_uc003yys.3_Splice_Site_p.V97_splice|EEF1D_uc011lkl.2_Splice_Site_p.V78_splice	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	97					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCTGTACCACTGGGGGGGCAA	0.692												
CPSF1	29894	broad.mit.edu	37	8	145620725	145620726	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr8:145620724_145620725CAT>C	uc003zcj.3	-	26	3096_3097	c.3021_3022ATG>G	c.(3019-3024)tatgatfs	p.Y1007fs	MIR939_uc022bcn.1_5'Flank|CPSF1_uc011lld.1_Non-coding_Transcript	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1007					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CATGGGGCATCATAGGACAGGT	0.663												
CDKN2A	1029	broad.mit.edu	37	9	21971089	21971090	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:21971088_21971089G>GA	uc003zpk.3	-	1	575_576	c.269_270C>TC	c.(268-270)ttcfs	p.F90fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Ins_p.F90fs|CDKN2A_uc003zpl.3_Frame_Shift_Ins_p.L104fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	90					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.G89S(4)|p.D84_F90del(2)|p.F90L(2)|p.E61_L94del(2)|p.H83fs*2(2)|p.F90F(2)|p.0(1)|p.V82_G89>G(1)|p.G89V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.G89fs*57(1)|p.G89G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCGTGTCCAGGAAGCCCTCCCG	0.752		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
TAF1L	138474	broad.mit.edu	37	9	32633584	32633585	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:32633583_32633584C>CT	uc003zrg.1	-	0	2084_2085	c.1994_1995G>AG	c.(1993-1995)aagfs	p.K665fs	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	665					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.K665fs*4(4)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATCTTGGCCTTTTTTTTGAT	0.480												
UBAP1	51271	broad.mit.edu	37	9	34241785	34241785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:34241784_34241784TC>T	uc022bfy.1	+	4	1159	c.761_761TC>T	c.(760-762)ctcfs	p.L254fs	UBAP1_uc010mka.2_Frame_Shift_Del_p.L290fs|UBAP1_uc003zty.3_Frame_Shift_Del_p.L254fs|UBAP1_uc022bfz.1_Frame_Shift_Del_p.L254fs|UBAP1_uc003ztx.3_Frame_Shift_Del_p.L254fs|UBAP1_uc011loj.2_Frame_Shift_Del_p.L318fs|UBAP1_uc011loi.2_Frame_Shift_Del_p.L290fs|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Frame_Shift_Del_p.L254fs	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.	254						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AAAGTGTCCCTCCCCCCTATA	0.463												
ZBTB34	403341	broad.mit.edu	37	9	129641782	129641783	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:129641781_129641782CTA>C	uc022bnn.1	+	0	91_92	c.91_92CTA>C	c.(91-93)ctafs	p.L31fs	ZBTB34_uc004bqm.4_Frame_Shift_Del_p.L31fs	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GCAGGGGAAACTATGTGACATC	0.510												
ASS1	445	broad.mit.edu	37	9	133329755	133329755	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:133329754_133329754CA>C	uc010mza.3	+	3	904	c.396_396CA>C	c.(394-396)gccfs	p.A132fs	ASS1_uc004bzm.3_Frame_Shift_Del_p.A56fs|ASS1_uc004bzn.3_Frame_Shift_Del_p.A56fs	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	56					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AGCTTGGGGCCAAAAAGGTAC	0.622												
LAMC3	10319	broad.mit.edu	37	9	133932467	133932467	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr9:133932466_133932466AG>A	uc004caa.1	+	11	2188	c.2090_2090AG>A	c.(2089-2091)cagfs	p.Q697fs		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	697	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GAGATGCCACAGGGGGGTCCC	0.612												
GPR158	57512	broad.mit.edu	37	10	25887977	25887977	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:25887976_25887976GA>G	uc001isj.3	+	10	3481	c.3421_3421GA>G	c.(3421-3423)gaafs	p.E1141fs	GPR158_uc001isk.3_Frame_Shift_Del_p.E516fs	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1141						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGGACACCAGGAAAAAAAGAC	0.453												
ABI1	10006	broad.mit.edu	37	10	27037590	27037592	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:27037589_27037591ATTC>A	uc001isx.3	-	11	1659_1661	c.1435_1437GAAT>T	c.(1435-1437)aat>T	p.N479del	ABI1_uc001itb.3_In_Frame_Del_p.N467del|ABI1_uc001ite.3_In_Frame_Del_p.N417del|ABI1_uc010qdh.2_In_Frame_Del_p.N359del|ABI1_uc010qdi.2_In_Frame_Del_p.N300del|ABI1_uc001itc.3_In_Frame_Del_p.N451del|ABI1_uc001isy.3_In_Frame_Del_p.N452del|ABI1_uc001itd.3_In_Frame_Del_p.N422del|ABI1_uc010qdj.2_In_Frame_Del_p.N393del|ABI1_uc001ita.3_In_Frame_Del_p.N423del|ABI1_uc010qdk.2_In_Frame_Del_p.N364del|ABI1_uc001isz.3_In_Frame_Del_p.N447del|ABI1_uc010qdg.2_In_Frame_Del_p.N289del	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA.	479	SH3.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCCATCATCATTCTTCTTTATA	0.345												
ANKRD26	22852	broad.mit.edu	37	10	27295869	27295869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:27295868_27295868AT>A	uc009xku.1	-	32	5149	c.4977_4977AT>T	c.(4975-4977)aatfs	p.N1659fs	ANKRD26_uc001itg.2_Frame_Shift_Del_p.N1345fs|ANKRD26_uc001ith.2_Frame_Shift_Del_p.N1658fs	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1658						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTCTAGTTATATTTTTTTCCA	0.274												
KIAA1462	57608	broad.mit.edu	37	10	30336501	30336501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:30336500_30336500TC>T	uc009xle.2	-	1	379	c.242_242GA>A	c.(241-243)gagfs	p.E81fs	KIAA1462_uc001iux.3_Frame_Shift_Del_p.E81fs|KIAA1462_uc001iuy.3_Frame_Shift_Del_p.E81fs|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	81										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCTCTGGGGCTCCCCGTGGCC	0.607												
BMS1	9790	broad.mit.edu	37	10	43294048	43294048	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:43294047_43294047GC>G	uc001jaj.3	+	11	2579	c.2221_2221GC>G	c.(2221-2223)gccfs	p.A741fs		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	741					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTTGTGGAGGCCCCCCATGA	0.433												
ANK3	288	broad.mit.edu	37	10	61834217	61834218	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:61834216_61834217T>TG	uc001jky.3	-	36	6760_6761	c.6422_6423A>CA	c.(6421-6423)ccafs	p.P2141fs	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2141					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAGCGCTTTGTGGGGCTGAAGG	0.426												
DDX50	79009	broad.mit.edu	37	10	70670982	70670983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:70670981_70670982T>TA	uc001jou.3	+	3	725_726	c.618_619T>TA	c.(616-621)attaaafs	p.I206fs	DDX50_uc001jot.3_Frame_Shift_Ins_p.I206fs	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	206	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAGAAACAATTAAAAAAAGCCG	0.371												
SEC24C	9632	broad.mit.edu	37	10	75525560	75525561	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:75525559_75525560T>TC	uc001juw.3	+	10	1548_1549	c.1368_1369T>TC	c.(1366-1371)gttcccfs	p.V456fs	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Frame_Shift_Ins_p.V314fs|SEC24C_uc001jux.3_Frame_Shift_Ins_p.V456fs|SEC24C_uc010qko.2_Frame_Shift_Ins_p.V337fs|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510												
FAM178A	55719	broad.mit.edu	37	10	102684424	102684424	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:102684423_102684423TC>T	uc001krs.3	+	4	2207	c.1665_1665TC>T	c.(1663-1665)tctfs	p.S555fs	FAM178A_uc001krr.1_Frame_Shift_Del_p.S555fs|FAM178A_uc001krt.4_Frame_Shift_Del_p.S555fs|FAM178A_uc001kru.1_Frame_Shift_Del_p.S490fs	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	555																	CTACAAAGTCTCCCCCTGCTG	0.473												
C10orf2	56652	broad.mit.edu	37	10	102748601	102748601	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:102748600_102748600TG>T	uc001ksf.2	+	0	1308	c.633_633TG>T	c.(631-633)cctfs	p.P211fs	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Frame_Shift_Del_p.P211fs|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	211					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGTTCTCCCCTGGGGGCTCAG	0.552												
PPRC1	23082	broad.mit.edu	37	10	103901158	103901158	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr10:103901157_103901157AC>A	uc001kum.3	+	4	2931	c.2892_2892AC>A	c.(2890-2892)gcafs	p.A964fs	PPRC1_uc001kun.3_Frame_Shift_Del_p.A844fs|PPRC1_uc010qqj.2_Frame_Shift_Del_p.A964fs|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	964	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGCCTTGGGCACCCCCTCCTG	0.612												
UBQLN3	50613	broad.mit.edu	37	11	5529402	5529402	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:5529401_5529401GA>G	uc021qcw.1	-	0	1388	c.1388_1388TC>C	c.(1387-1389)tccfs	p.S463fs	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Frame_Shift_Del_p.S463fs	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	463										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCGTGGGGGAAAAAGATAA	0.552												
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5653607	5653608	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:5653606_5653607T>TC	uc001mbh.3	+	1	202_203	c.45_46T>TC	c.(43-48)tgtcccfs	p.C15fs	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Frame_Shift_Ins_p.C369fs|TRIM6-TRIM34_uc001mbi.3_Frame_Shift_Ins_p.C15fs|TRIM6-TRIM34_uc001mbj.3_Frame_Shift_Ins_p.C15fs	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	369						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGGTGACCTGTCCCATCTGCCT	0.540												
PAX6	5080	broad.mit.edu	37	11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:31812316_31812316TG>T	uc009yjr.3	-	11	1594	c.1125_1125CA>A	c.(1123-1125)ccafs	p.P375fs	PAX6_uc001mtd.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mte.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.4_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.4_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.4_Frame_Shift_Del_p.P375fs|PAX6_uc021qfl.1_Frame_Shift_Del_p.P389fs|PAX6_uc021qfm.1_Frame_Shift_Del_p.P389fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGT	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation			
RAG2	5897	broad.mit.edu	37	11	36614223	36614223	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:36614222_36614222CT>C	uc021qge.1	-	0	1497	c.1497_1497AG>G	c.(1495-1497)aagfs	p.K499fs	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Frame_Shift_Del_p.K499fs|RAG2_uc021qgd.1_Frame_Shift_Del_p.K499fs|RAG2_uc001mwv.4_Frame_Shift_Del_p.K499fs|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	499					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.K499fs*4(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TCATTGGAGGCTTTTTTAAGG	0.418									Familial Hemophagocytic Lymphohistiocytosis			
KBTBD4	55709	broad.mit.edu	37	11	47597166	47597167	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:47597165_47597166ACT>A	uc001nfx.3	-	2	846_847	c.675_676AGT>T	c.(673-678)gagtcafs	p.E225fs	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Frame_Shift_Del_p.E250fs|KBTBD4_uc001nfz.3_Frame_Shift_Del_p.E241fs|KBTBD4_uc001nfy.3_Frame_Shift_Del_p.E225fs	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	225	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GTCCTGAGTGACTCTGCAAAAG	0.426												
OR4C13	283092	broad.mit.edu	37	11	49974149	49974149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:49974148_49974148CT>C	uc010rhz.2	+	0	206	c.174_174CT>C	c.(172-174)tacfs	p.Y58fs		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCCCCATGTACTTTTTCCTGG	0.423												
TNKS1BP1	85456	broad.mit.edu	37	11	57087895	57087895	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:57087894_57087894AG>A	uc001njr.3	-	1	699	c.387_387CT>T	c.(385-387)cctfs	p.P129fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.P129fs|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	129	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGGGTGTCAAAGGGGGTGGCT	0.657												
SF1	7536	broad.mit.edu	37	11	64537024	64537024	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:64537023_64537023TC>T	uc001obb.2	-	5	990	c.538_538GA>A	c.(538-540)aaafs	p.K180fs	SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Frame_Shift_Del_p.K154fs|SF1_uc001oaz.2_Frame_Shift_Del_p.K305fs|SF1_uc001oba.2_Frame_Shift_Del_p.K180fs|SF1_uc001obd.2_Frame_Shift_Del_p.K180fs|SF1_uc001obc.2_Frame_Shift_Del_p.K180fs|SF1_uc001obe.2_Frame_Shift_Del_p.K65fs|SF1_uc010rno.2_Frame_Shift_Del_p.K65fs	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	180	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ACAGACCCTTTCCCCCGGATC	0.473												
MEN1	4221	broad.mit.edu	37	11	64572093	64572093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:64572092_64572092CG>C	uc001obj.3	-	9	1635	c.1562_1562CG>G	c.(1561-1563)cggfs	p.R521fs	MAP4K2_uc001obh.3_5'Flank|MAP4K2_uc001obi.3_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.3_Frame_Shift_Del_p.R521fs|MEN1_uc001obl.3_Frame_Shift_Del_p.R481fs|MEN1_uc001obm.3_Frame_Shift_Del_p.R516fs|MEN1_uc001obn.3_Frame_Shift_Del_p.R521fs|MEN1_uc001obo.3_Frame_Shift_Del_p.R521fs|MEN1_uc001obq.3_Frame_Shift_Del_p.R521fs|MEN1_uc001obr.3_Frame_Shift_Del_p.R521fs	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	521					DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|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 UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding	p.R516fs*15(3)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGGAGGCTTCCGGGGGGGTCC	0.711			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated			
SPDYC	387778	broad.mit.edu	37	11	64938885	64938885	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:64938884_64938884TG>T	uc010rnz.2	+	1	113	c.113_113TG>T	c.(112-114)ctgfs	p.L38fs		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	38					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CAGGTAGAGCTGGGGGGCTGC	0.602												
ACTN3	89	broad.mit.edu	37	11	66330516	66330516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:66330515_66330515AC>A	uc021qma.1	+	10	1324	c.811_811AC>A	c.(811-813)accfs	p.T271fs	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	853					focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GAACTACATCACCCCCGAGGA	0.682												
RAD9A	5883	broad.mit.edu	37	11	67163284	67163286	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:67163283_67163285CGAG>C	uc001okr.3	+	5	639_641	c.546_548CGAG>C	c.(544-549)cacgag>caCg	p.E185del	RAD9A_uc021qmg.1_In_Frame_Del_p.E109del	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	185					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCAGCTACCACGAGGAGGAGGCA	0.655								Other conserved DNA damage response genes				
CEP164	22897	broad.mit.edu	37	11	117267846	117267846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr11:117267845_117267845AG>A	uc001prc.3	+	26	3464	c.3317_3317AG>A	c.(3316-3318)gagfs	p.E1106fs	CEP164_uc001prb.3_Frame_Shift_Del_p.E1109fs|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Frame_Shift_Del_p.E539fs	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1106					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTCTCTGCTGAGGGGGTAGCC	0.587												
ERC1	23085	broad.mit.edu	37	12	1192553	1192553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:1192552_1192552CA>C	uc001qjb.2	+	2	1133	c.892_892CA>C	c.(892-894)caafs	p.Q298fs	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Frame_Shift_Del_p.Q298fs|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Frame_Shift_Del_p.Q298fs|ERC1_uc010sdv.1_Frame_Shift_Del_p.Q74fs	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	298					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TATTGAGACTCAAAAGCAGAC	0.478												
PRMT8	56341	broad.mit.edu	37	12	3649780	3649780	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	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												
CD4	920	broad.mit.edu	37	12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562												
NANOG	79923	broad.mit.edu	37	12	7945649	7945649	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:7945648_7945648CA>C	uc009zfy.1	+	1	470	c.254_254CA>C	c.(253-255)gcafs	p.A85fs		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	85					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AAGAGTGTCGCAAAAAAGGAA	0.473												
CLEC4A	50856	broad.mit.edu	37	12	8281890	8281890	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:8281889_8281889GA>G	uc001qtz.1	+	2	476	c.229_229GA>G	c.(229-231)gaafs	p.E77fs	CLEC4A_uc009zga.1_Frame_Shift_Del_p.E38fs|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	Homo sapiens C-type lectin domain family 4, member A (CLEC4A), transcript variant 1, mRNA.	77					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TCAGCTTCTTGAAAAAAAGAC	0.328												
TAS2R10	50839	broad.mit.edu	37	12	10978282	10978282	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:10978281_10978281TA>T	uc001qyy.1	-	0	588	c.588_588TA>A	c.(586-588)ttafs	p.L196fs		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	196					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATAC	0.343												
EPS8	2059	broad.mit.edu	37	12	15811510	15811510	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:15811509_15811509TA>T	uc009zif.3	-	10	1042	c.948_948TA>A	c.(946-948)ttafs	p.L316fs	EPS8_uc001rdb.3_Frame_Shift_Del_p.L316fs|EPS8_uc009zig.3_Frame_Shift_Del_p.L56fs|EPS8_uc010shv.2_Frame_Shift_Del_p.L56fs	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	316					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCCGCAGCGTTAAAACACCCT	0.353												
C12orf35	55196	broad.mit.edu	37	12	32133955	32133955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:32133954_32133954CT>C	uc001rks.3	+	3	479	c.65_65CT>C	c.(64-66)cctfs	p.P22fs		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	22										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	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)			AGCCAGCCACCTTTTTTGCAC	0.388												
ITGA7	3679	broad.mit.edu	37	12	56092271	56092271	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:56092270_56092270AC>A	uc001shh.3	-	6	1321	c.1101_1101GT>T	c.(1099-1101)ggtfs	p.G367fs	ITGA7_uc001shg.3_Frame_Shift_Del_p.G363fs|ITGA7_uc010sps.2_Frame_Shift_Del_p.G270fs|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Frame_Shift_Del_p.G250fs	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	407					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGCCCAGTGACCCCCCTGGT	0.607												
GLI1	2735	broad.mit.edu	37	12	57864218	57864218	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:57864217_57864217TC>T	uc001snx.3	+	11	1788	c.1694_1694TC>T	c.(1693-1695)ttcfs	p.F565fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.F524fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.F437fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	565					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)			GCCTCTCCTTTCCCCCCTGGC	0.642												
FAM19A2	338811	broad.mit.edu	37	12	62148720	62148723	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:62148719_62148722CTGTT>C	uc001sqw.3	-	2	1772_1775	c.190_193AACAG>G	c.(190-195)acagtcfs	p.T64fs	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Frame_Shift_Del_p.T64fs|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	64						cytoplasm		p.V65F(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GAGCACTTGACTGTTTGTGACCGT	0.490												
BEST3	144453	broad.mit.edu	37	12	70070713	70070715	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:70070712_70070714TAGA>T	uc001svg.3	-	6	1076_1078	c.849_851TCTA>A	c.(847-852)ttctat>ttAt	p.283_284FY>L	BEST3_uc001svd.2_In_Frame_Del_p.283_284FY>L|BEST3_uc001svf.3_Intron|BEST3_uc010stm.2_In_Frame_Del_p.177_178FY>L	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	283						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CCATCCTGCATAGAAGAAGAATT	0.473												
BBS10	79738	broad.mit.edu	37	12	76740799	76740801	+	In_Frame_Del	DEL	ATA	ATA	-	rs139053702	byFrequency	TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:76740798_76740800CATA>C	uc001syd.1	-	1	1049_1051	c.965_967TATG>G	c.(964-969)tatgca>tGca	p.322_323YA>C		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	322					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TTCACCCCTGCATAATAACTAAC	0.369									Bardet-Biedl syndrome			
HSP90B1	7184	broad.mit.edu	37	12	104335305	104335305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:104335304_104335304TA>T	uc001tkb.1	+	8	1314	c.1209_1209TA>T	c.(1207-1209)tctfs	p.S403fs	HSP90B1_uc010swg.1_Frame_Shift_Del_p.S68fs|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	403					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	AATATGGATCTAAAAAGAGCG	0.343												
BTBD11	121551	broad.mit.edu	37	12	107937778	107937778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:107937777_107937777AC>A	uc001tmk.1	+	2	1872	c.1351_1351AC>A	c.(1351-1353)accfs	p.T451fs	BTBD11_uc009zut.1_Frame_Shift_Del_p.T451fs|BTBD11_uc001tmj.3_Frame_Shift_Del_p.T451fs	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	451						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGGCAATGGCACCCCCCTGCA	0.577												
PWP1	11137	broad.mit.edu	37	12	108090314	108090317	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:108090313_108090316CTGAG>C	uc001tmo.1	+	5	652_655	c.565_568CTGAG>C	c.(565-570)ctgagtfs	p.L189fs	PWP1_uc001tmn.1_Non-coding_Transcript	NM_007062	NP_008993	Q13610	PWP1_HUMAN	Homo sapiens PWP1 homolog (S. cerevisiae) (PWP1), mRNA.	189					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGCATATCCTCTGAGTGTGGAATG	0.338												
MVK	4598	broad.mit.edu	37	12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-	rs104895373		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:110019239_110019239GC>G	uc001toy.4	+	4	595	c.411_411GC>G	c.(409-411)ctgfs	p.L137fs	MVK_uc009zvk.3_Frame_Shift_Del_p.L137fs|MVK_uc010sxr.2_Intron|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Frame_Shift_Del_p.L137fs|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	137					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGTCGGAGCTGCCCCCCGGGG	0.662												
ATP6V0A2	23545	broad.mit.edu	37	12	124218472	124218472	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr12:124218471_124218471AG>A	uc001ufr.3	+	7	897	c.649_splice	c.e7-2	p.G217_splice	ATP6V0A2_uc001ufq.1_Splice_Site_p.G217_splice	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	217					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	p.?(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	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)		CATTCTTTGTAGGGGGAAGTC	0.363												
DCLK1	9201	broad.mit.edu	37	13	36445442	36445442	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr13:36445441_36445441AT>A	uc001uvf.3	-	4	1143	c.860_860AT>T	c.(859-861)atafs	p.I287fs	MAB21L1_uc001uvc.3_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	287					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGATGAAGCTATTTTGGTGTA	0.507												
LTB4R2	56413	broad.mit.edu	37	14	24780905	24780905	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:24780904_24780904CG>C	uc021rrp.1	+	0	1034	c.1034_1034CG>C	c.(1033-1035)ccgfs	p.P345fs	CIDEB_uc001woo.3_5'Flank|CIDEB_uc001wop.3_5'Flank|LTB4R2_uc010alo.3_Frame_Shift_Del_p.P345fs|LTB4R2_uc001wor.3_Frame_Shift_Del_p.P345fs|LTB4R_uc001wos.3_5'UTR|LTB4R_uc010alp.3_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.	376					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		AATGGAGACCCGGGGGGTGGG	0.672												
ARHGAP5	394	broad.mit.edu	37	14	32561326	32561326	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:32561325_32561325GA>G	uc001wrl.3	+	1	1689	c.1450_1450GA>G	c.(1450-1452)gaafs	p.E484fs	ARHGAP5_uc001wrm.3_Frame_Shift_Del_p.E484fs|ARHGAP5_uc001wrn.3_Frame_Shift_Del_p.E484fs|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	484	FF 4.				Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGAAATAGTTGAAAAAGCCAA	0.358												
TRIM9	114088	broad.mit.edu	37	14	51446192	51446192	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:51446191_51446191TA>T	uc001wyx.4	-	8	2749	c.1984_1984TA>A	c.(1984-1986)atcfs	p.I662fs	TRIM9_uc001wyy.2_Frame_Shift_Del_p.I743fs	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	662	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCATCGTTGATAAAAAATGTC	0.473												
C14orf101	54916	broad.mit.edu	37	14	57052612	57052612	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:57052611_57052611CT>C	uc001xcm.3	+	2	447	c.325_325CT>C	c.(325-327)cttfs	p.L109fs	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Frame_Shift_Del_p.L109fs|C14orf101_uc010aot.1_Frame_Shift_Del_p.L109fs|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	109						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		TGCATCATTACTTTTTTTCAC	0.368												
C14orf149	112849	broad.mit.edu	37	14	59946072	59946072	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	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												
KCNH5	27133	broad.mit.edu	37	14	63174303	63174304	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:63174302_63174303T>TG	uc001xfx.3	-	10	2941_2942	c.2890_2891A>CA	c.(2890-2892)cagfs	p.Q964fs	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391												
NUMB	8650	broad.mit.edu	37	14	73743644	73743645	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:73743643_73743644CTG>C	uc001xny.1	-	12	1918_1919	c.1598_1599CAG>G	c.(1597-1599)cagfs	p.Q533fs	NUMB_uc010aro.1_Frame_Shift_Del_p.Q338fs|NUMB_uc010arp.1_Frame_Shift_Del_p.Q327fs|NUMB_uc010arq.1_Frame_Shift_Del_p.Q387fs|NUMB_uc010arr.1_Frame_Shift_Del_p.Q376fs|NUMB_uc001xoa.1_Frame_Shift_Del_p.Q485fs|NUMB_uc001xnz.1_Frame_Shift_Del_p.Q522fs|NUMB_uc001xob.1_Frame_Shift_Del_p.Q474fs|NUMB_uc001xod.1_Frame_Shift_Del_p.Q485fs|NUMB_uc001xoc.1_Frame_Shift_Del_p.Q533fs|NUMB_uc010ars.1_Frame_Shift_Del_p.Q522fs|NUMB_uc010ttz.1_Frame_Shift_Del_p.Q231fs|NUMB_uc001xoe.3_Non-coding_Transcript	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	533				Q -> K (in Ref. 6; AAH68476).	axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TGGCCACCATCTGGGAGGGAGT	0.609												
RPS6KA5	9252	broad.mit.edu	37	14	91369281	91369281	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:91369280_91369280CT>C	uc001xys.2	-	8	1206	c.991_991AG>G	c.(991-993)gtgfs	p.V331fs	RPS6KA5_uc010twi.1_Frame_Shift_Del_p.V252fs|RPS6KA5_uc001xyt.3_Frame_Shift_Del_p.V331fs|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	331	AGC-kinase C-terminal.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GGTGCAGGCACTTTTTTGGCG	0.363												
GPR68	8111	broad.mit.edu	37	14	91700911	91700913	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:91700910_91700912ACCT>A	uc021ryk.1	-	0	483_485	c.483_485AGGT>T	c.(481-486)gaggtc>gaTc	p.161_162EV>D	GPR68_uc001xzg.3_In_Frame_Del_p.161_162EV>D|GPR68_uc001xzh.3_In_Frame_Del_p.161_162EV>D	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	161					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GTCCTCGATGACCTCCTCGTGCA	0.621												
INF2	64423	broad.mit.edu	37	14	105174185	105174185	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr14:105174184_105174184GC>G	uc001ypb.2	+	7	1723	c.1580_1580GC>G	c.(1579-1581)agcfs	p.S527fs	INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding	p.V530fs*50(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGCACCTGCAGCCCCCCCGTG	0.721												
PGBD4	161779	broad.mit.edu	37	15	34395204	34395204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:34395203_34395203CT>C	uc001zho.3	+	0	930	c.471_471CT>C	c.(469-471)gtcfs	p.V157fs	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	157										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AGCTCAAAGTCTTTTTTGCAG	0.448												
THBS1	7057	broad.mit.edu	37	15	39874929	39874929	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:39874928_39874928AG>A	uc001zkh.3	+	2	781	c.602_602AG>A	c.(601-603)aagfs	p.K201fs		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	201	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 cGMP-mediated signaling|negative regulation of caspase activity|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			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		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)	CGCATCGCAAAGGGGGGCGTC	0.557												
TP53BP1	7158	broad.mit.edu	37	15	43748661	43748661	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:43748660_43748660CT>C	uc001zrs.3	-	11	2279	c.2131_2131AG>G	c.(2131-2133)gaafs	p.E711fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.E711fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.E716fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.E716fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.E716fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	711					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)		TCTGAGCATTCTTTTTTTGGC	0.403								Other conserved DNA damage response genes				
ISLR2	57611	broad.mit.edu	37	15	74425630	74425631	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:74425629_74425630CTA>C	uc002axd.3	+	3	1303_1304	c.534_535CTA>C	c.(532-537)ctctatfs	p.L178fs	ISLR2_uc002axe.3_Frame_Shift_Del_p.L178fs|ISLR2_uc010bjg.3_Frame_Shift_Del_p.L178fs|ISLR2_uc010bjf.3_Frame_Shift_Del_p.L178fs|ISLR2_uc021sqe.1_Frame_Shift_Del_p.L178fs	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	178					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						ACTTGCAACTCTATCACAATCC	0.649												
SIN3A	25942	broad.mit.edu	37	15	75704021	75704021	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:75704020_75704020GA>G	uc002bai.3	-	5	1080	c.821_821TC>C	c.(820-822)tccfs	p.S274fs	SIN3A_uc002baj.3_Frame_Shift_Del_p.S274fs|SIN3A_uc010uml.2_Frame_Shift_Del_p.S274fs	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	274	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGAACGTGGGGATGCATACGG	0.527												
RASGRF1	5923	broad.mit.edu	37	15	79296457	79296457	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:79296456_79296456TG>T	uc002beq.3	-	15	2560	c.2185_2185CA>A	c.(2185-2187)aagfs	p.K729fs	RASGRF1_uc002bep.3_Frame_Shift_Del_p.K713fs|RASGRF1_uc010blm.1_Frame_Shift_Del_p.K638fs|RASGRF1_uc002ber.4_Frame_Shift_Del_p.K713fs|RASGRF1_uc010unh.1_Frame_Shift_Del_p.K124fs|RASGRF1_uc002beo.3_5'UTR	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	729	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGCGGGGACTTGGGGGGTTCA	0.627												
KIAA1199	57214	broad.mit.edu	37	15	81173394	81173394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:81173393_81173393AT>A	uc002bfw.1	+	4	793	c.533_533AT>A	c.(532-534)tatfs	p.Y178fs	KIAA1199_uc010unn.1_Frame_Shift_Del_p.Y178fs	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	178										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAAGGAGGCTATTTTTTTGAA	0.498												
MAN2A2	4122	broad.mit.edu	37	15	91453427	91453429	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr15:91453426_91453428TCTC>T	uc010bnz.2	+	9	1596_1598	c.1481_1483TCTC>T	c.(1480-1485)ttctcc>tTcc	p.S495del	MAN2A2_uc010boa.3_In_Frame_Del_p.S537del|MAN2A2_uc002bqc.3_In_Frame_Del_p.S495del|MAN2A2_uc010uql.2_Intron|MAN2A2_uc010uqm.2_Intron|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	495					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGGATTTCTTCTCCTATGCGGA	0.567												
WDR90	197335	broad.mit.edu	37	16	709106	709107	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:709105_709106G>GC	uc002cii.1	+	24	3085_3086	c.3031_3032G>GC	c.(3031-3033)gccfs	p.A1011fs	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Frame_Shift_Ins_p.A538fs|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Frame_Shift_Ins_p.A185fs|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTTCCCCGGGGCCCCCCCAGCC	0.658												
TMEM204	79652	broad.mit.edu	37	16	1604942	1604942	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	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												
CREBBP	1387	broad.mit.edu	37	16	3817721	3817722	+	Splice_Site	INS	-	-	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:3817720_3817721C>CT	uc002cvv.3	-	16	3454	c.3250_splice	c.e16+1	p.I1084_splice	CREBBP_uc002cvw.3_Splice_Site_p.I1046_splice	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1084					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAATGGCCTACTTTTTTTGCGC	0.401			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome					
SEPT12	124404	broad.mit.edu	37	16	4829702	4829702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:4829701_4829701GC>G	uc002cxq.3	-	7	1077	c.813_813GC>C	c.(811-813)ggcfs	p.G271fs	SEPT12_uc002cxr.3_Frame_Shift_Del_p.G225fs|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	271					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTTCAATGATGCCCCACTTGG	0.607												
UMOD	7369	broad.mit.edu	37	16	20352438	20352439	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:20352437_20352438A>AG	uc002dhb.3	-	7	1780_1781	c.1651_1652T>CT	c.(1651-1653)ctgfs	p.L551fs	UMOD_uc002dgz.3_Frame_Shift_Ins_p.L518fs|UMOD_uc002dha.3_Frame_Shift_Ins_p.L518fs	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	518	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GAAGTACTTCAGGGGGTCCGTG	0.525												
ZNF48	197407	broad.mit.edu	37	16	30409299	30409300	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:30409298_30409299C>CG	uc002dya.2	+	1	1103_1104	c.727_728C>CG	c.(727-729)cggfs	p.R243fs	ZNF48_uc021tgi.1_Frame_Shift_Ins_p.R243fs|ZNF48_uc021tgj.1_Frame_Shift_Ins_p.R120fs|ZNF48_uc021tgk.1_Frame_Shift_Ins_p.R243fs	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R243L(2)|p.R243W(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCGGACACACCGGGGGGAGCAG	0.649												
SRCAP	10847	broad.mit.edu	37	16	30736371	30736372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:30736370_30736371G>GC	uc002dze.1	+	24	6010_6011	c.5625_5626G>GC	c.(5623-5628)cagcccfs	p.Q1875fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.Q1670fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569												
SALL1	6299	broad.mit.edu	37	16	51175644	51175646	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:51175643_51175645TGCC>T	uc021tif.1	-	1	519_521	c.197_199GGCA>A	c.(196-201)ggcagc>gAgc	p.66_67GS>E	SALL1_uc021tid.1_In_Frame_Del_p.66_67GS>E|SALL1_uc021tie.1_In_Frame_Del_p.163_164GS>E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	163					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T66P(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTGGAGGAgctgccgccgccgcc	0.611												
MT4	84560	broad.mit.edu	37	16	56602769	56602769	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:56602768_56602768GC>G	uc002eje.1	+	2	193	c.113_113GC>G	c.(112-114)tgcfs	p.C38fs		NM_032935	NP_116324	P47944	MT4_HUMAN	Homo sapiens metallothionein 4 (MT4), mRNA.	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGC	0.602												
GPR114	221188	broad.mit.edu	37	16	57600566	57600566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:57600565_57600565TG>T	uc002ely.3	+	6	1124	c.601_601TG>T	c.(601-603)tggfs	p.W201fs	GPR114_uc002elx.4_Frame_Shift_Del_p.W201fs|GPR114_uc010vhr.2_Frame_Shift_Del_p.W201fs	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	201	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W204fs*4(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAAACAGCCCTGGGGGGGCTG	0.607												
FAM65A	79567	broad.mit.edu	37	16	67576620	67576621	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:67576619_67576620A>AC	uc010vjp.2	+	12	2176_2177	c.1990_1991A>AC	c.(1990-1992)accfs	p.T664fs	FAM65A_uc010cei.2_Frame_Shift_Ins_p.T486fs|FAM65A_uc002eth.3_Frame_Shift_Ins_p.T644fs|FAM65A_uc010cej.3_Frame_Shift_Ins_p.T648fs|FAM65A_uc002eti.2_Frame_Shift_Ins_p.T607fs|FAM65A_uc010vjq.2_Frame_Shift_Ins_p.T658fs|FAM65A_uc002etj.1_Frame_Shift_Ins_p.T643fs|FAM65A_uc002etk.3_Frame_Shift_Ins_p.T643fs	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	648	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TACAAGTCCTACCCCCAGTGGT	0.559												
CHST4	10164	broad.mit.edu	37	16	71570593	71570593	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:71570592_71570592TA>T	uc021tkt.1	+	0	12	c.12_12TA>T	c.(10-12)cctfs	p.P4fs	CHST4_uc002fan.3_Frame_Shift_Del_p.P4fs|CHST4_uc002fao.3_Frame_Shift_Del_p.P4fs	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	4					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGCTACTGCCTAAAAAAATGA	0.463												
TAF1C	9013	broad.mit.edu	37	16	84213651	84213652	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:84213650_84213651T>TG	uc002fhn.3	-	12	1842_1843	c.1600_1601A>CA	c.(1600-1602)cagfs	p.Q534fs	TAF1C_uc010vnz.2_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fho.3_Frame_Shift_Ins_p.Q57fs|TAF1C_uc010voa.2_Frame_Shift_Ins_p.Q202fs|TAF1C_uc002fhm.3_Frame_Shift_Ins_p.Q440fs|TAF1C_uc010vnx.2_Frame_Shift_Ins_p.Q508fs|TAF1C_uc010vny.2_Frame_Shift_Ins_p.Q125fs	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	534					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	p.Q534fs*19(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AGGAAGAGACTGGGGGGGGCCT	0.663												
ZDHHC7	55625	broad.mit.edu	37	16	85010039	85010039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:85010038_85010038AG>A	uc010voi.1	-	8	1302	c.949_949CT>T	c.(949-951)tcafs	p.S317fs	ZDHHC7_uc002fiq.2_Frame_Shift_Del_p.S280fs|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	280						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CAGAGGAGTGAGGGGGGCCCC	0.582												
ANKRD11	29123	broad.mit.edu	37	16	89347320	89347320	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr16:89347319_89347319CG>C	uc002fmx.1	-	8	6092	c.5631_5631CG>G	c.(5629-5631)ccgfs	p.P1877fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.P1877fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.P1877fs|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.P1834fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1877	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCTGGAGACGGGGTGACAG	0.627												
OR1A2	26189	broad.mit.edu	37	17	3101552	3101552	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:3101551_3101551GT>G	uc002fvd.1	+	0	739	c.739_739GT>G	c.(739-741)gttfs	p.V247fs		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CCTCACAGTTGTTTTTTTATA	0.453												
P2RX1	5023	broad.mit.edu	37	17	3819462	3819462	+	Frame_Shift_Del	DEL	G	G	-	rs35715771		TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:3819461_3819461CG>C	uc002fww.3	-	0	500	c.59_59CG>G	c.(58-60)cgcfs	p.R20fs	P2RX1_uc010ckm.1_5'UTR	NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	20					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CAGCACCATGCGGGGGGTGTC	0.652												
GP1BA	2811	broad.mit.edu	37	17	4837373	4837373	+	RNA	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:4837372_4837372CA>C	uc021toc.1	-	0		c.485_485TG>G			GP1BA_uc021tnz.1_Frame_Shift_Del_p.T491fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Del_p.T491fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCA	0.502												
CAMTA2	23125	broad.mit.edu	37	17	4883808	4883808	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:4883807_4883807TG>T	uc010cku.2	-	8	1291	c.879_879CA>A	c.(877-879)ccafs	p.P293fs	CAMTA2_uc002gag.2_Frame_Shift_Del_p.P269fs|CAMTA2_uc002gah.2_Frame_Shift_Del_p.P270fs|CAMTA2_uc002gai.2_Frame_Shift_Del_p.P272fs|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.2_Frame_Shift_Del_p.P83fs	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	270	Ser-rich.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAGGAGGCTCTGGGGGGTGAG	0.582											OREG0024111	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	7798765	7798765	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:7798764_7798764AC>A	uc002gjd.2	+	9	1790	c.1788_1788AC>A	c.(1786-1788)ccafs	p.P596fs	CHD3_uc002gje.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjf.2_Frame_Shift_Del_p.P537fs|CHD3_uc002gjg.1_Frame_Shift_Del_p.P365fs	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	537					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			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)				CAGATGTCCCACCCCCCCGTC	0.577												
MYH3	4621	broad.mit.edu	37	17	10533463	10533464	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:10533462_10533463ACT>A	uc002gmq.2	-	37	5596_5597	c.5508_5509AGT>T	c.(5506-5511)gagtctfs	p.E1836fs		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1836					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCCTTAACAGACTCTGTGTTCT	0.550												
NLK	51701	broad.mit.edu	37	17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:26449739_26449739GT>G	uc010crj.3	+	1	781	c.569_569GT>G	c.(568-570)tgtfs	p.C190fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	190	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AAGATGTTGTGTTTTTTTAAG	0.388												
CDK5R1	8851	broad.mit.edu	37	17	30815147	30815147	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:30815146_30815146TC>T	uc002hhn.3	+	1	729	c.508_508TC>T	c.(508-510)tccfs	p.S170fs	CDK5R1_uc010wca.1_Frame_Shift_Del_p.S170fs|CDK5R1_uc021tux.1_Frame_Shift_Del_p.S170fs|CDK5R1_uc010ctc.3_Intron	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	Homo sapiens cyclin-dependent kinase 5, regulatory subunit 1 (p35) (CDK5R1), mRNA.	170					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GAAGCACCTGTCCCCCACGGA	0.672												
KAT2A	2648	broad.mit.edu	37	17	40271408	40271408	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:40271407_40271407CG>C	uc002hyx.2	-	5	989	c.929_929CG>G	c.(928-930)cgcfs	p.R310fs		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	310					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	p.R310R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGTTTCGTAGCGGGGGAGGCT	0.587												
FZD2	2535	broad.mit.edu	37	17	42635401	42635402	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:42635400_42635401AGC>A	uc002igx.2	+	0	589_590	c.344_345AGC>A	c.(343-345)gagfs	p.E115fs		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	115	FZ.				G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCTATCTGTGAGCGCGCGCGCC	0.668												
HEXIM1	10614	broad.mit.edu	37	17	43227526	43227531	+	In_Frame_Del	DEL	GGAGCT	GGAGCT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:43227525_43227530GGGAGCT>G	uc002iig.3	+	0	2842_2847	c.968_973GGGAGCT>G	c.(967-975)cgggagctg>cGtg	p.EL328del		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	328	Required for inhibition of ESR1-dependent transcription.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCGTGTGCGGGAGCTGGAGCTGGA	0.665												
ACE	1636	broad.mit.edu	37	17	61560426	61560426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:61560425_61560425GA>G	uc002jau.2	+	8	1412	c.1378_1378GA>G	c.(1378-1380)gaafs	p.E460fs	ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Frame_Shift_Del_p.E277fs|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	460	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AATGGCACTGGAAAAAATTGC	0.527												
CCDC47	57003	broad.mit.edu	37	17	61838688	61838690	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:61838687_61838689GCTT>G	uc002jbs.4	-	4	906_908	c.570_572AAGC>C	c.(568-573)gaagcc>gaCc	p.190_191EA>D	CCDC47_uc010ddx.3_In_Frame_Del_p.190_191EA>D|CCDC47_uc002jbt.2_In_Frame_Del_p.190_191EA>D	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.	190						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TGTGCTTGTGGCTTCTTTGTTAG	0.502												
SLC16A6	9120	broad.mit.edu	37	17	66270150	66270150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:66270149_66270149GC>G	uc002jha.2	-	3	608	c.295_295GC>C	c.(295-297)ctafs	p.L99fs	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Frame_Shift_Del_p.L99fs	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	99						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAAC	0.532												
SDK2	54549	broad.mit.edu	37	17	71394282	71394282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr17:71394281_71394281TG>T	uc010dfm.3	-	23	3247	c.3247_3247CA>A	c.(3247-3249)agtfs	p.S1083fs	SDK2_uc002jjt.4_Frame_Shift_Del_p.S242fs|SDK2_uc010dfn.2_Frame_Shift_Del_p.S762fs	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1083	Fibronectin type-III 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAAGGCTGACTGGGGGGGCTG	0.622												
SETBP1	26040	broad.mit.edu	37	18	42281746	42281747	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr18:42281745_42281746G>GA	uc010dni.3	+	1	730_731	c.434_435G>GA	c.(433-435)ggafs	p.G145fs	SETBP1_uc002lay.3_Frame_Shift_Ins_p.G145fs	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	145						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCCGTGCTGGAAAAAATAGCA	0.450									Schinzel-Giedion syndrome			
C19orf70	125988	broad.mit.edu	37	19	5679654	5679655	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:5679653_5679654C>CG	uc002mch.1	-	1	564_565	c.150_151G>CG	c.(148-153)cccgccfs	p.P50fs	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA.	50							protein binding			endometrium(1)|lung(1)	2						TGGTACATGGCGGGGGGGACCA	0.663												
PSPN	5623	broad.mit.edu	37	19	6375793	6375793	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:6375792_6375792GC>G	uc010xja.2	-	0	69	c.69_69GC>C	c.(67-69)ggcfs	p.G23fs		NM_004158	NP_004149	O60542	PSPN_HUMAN	Homo sapiens persephin (PSPN), mRNA.	23					axon guidance|central nervous system development		growth factor activity			lung(1)|ovary(1)|skin(1)	3						GGGCATCGGGGCCCCAGCCCT	0.652												
ATG4D	84971	broad.mit.edu	37	19	10655661	10655662	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10655660_10655661TTG>T	uc002mov.3	+	2	467_468	c.347_348TTG>T	c.(346-348)tttfs	p.F116fs	ATG4D_uc010xlg.2_Frame_Shift_Del_p.F139fs|ATG4D_uc010xlh.2_Frame_Shift_Del_p.F53fs|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_5'UTR	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	116					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	p.D115G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CAGCGGGACTTTGTGTCCCGCC	0.673												
ILF3	3609	broad.mit.edu	37	19	10792683	10792683	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10792682_10792682GC>G	uc002mpn.3	+	11	1511	c.1194_1194GC>G	c.(1192-1194)gagfs	p.E398fs	ILF3_uc010xli.1_5'UTR|ILF3_uc002mpm.2_Frame_Shift_Del_p.E398fs|ILF3_uc002mpl.2_Frame_Shift_Del_p.E398fs|ILF3_uc002mpk.2_Frame_Shift_Del_p.E398fs|ILF3_uc002mpo.3_Frame_Shift_Del_p.E398fs|ILF3_uc002mpp.3_Frame_Shift_Del_p.E219fs	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	398	DRBM 1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	p.Q401fs*39(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGAAGGCAGAGCCCCCCCAGG	0.607												
DNM2	1785	broad.mit.edu	37	19	10940882	10940883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:10940881_10940882G>GC	uc002mpt.2	+	19	2560_2561	c.2370_2371G>GC	c.(2368-2373)gggcccfs	p.G790fs	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Frame_Shift_Ins_p.G790fs|DNM2_uc010dxl.2_Frame_Shift_Ins_p.G790fs|DNM2_uc002mpu.2_Frame_Shift_Ins_p.G786fs|DNM2_uc002mpv.2_Frame_Shift_Ins_p.G786fs|DNM2_uc002mpw.3_Frame_Shift_Ins_p.G519fs|DNM2_uc002mpx.1_Frame_Shift_Ins_p.G146fs	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	790	Pro-rich.				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	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCACTCCAGGGCCCCCCCTGAT	0.693			"""F, N, Splice, Mis, O"""		ETP ALL							
ZNF878	729747	broad.mit.edu	37	19	12155504	12155505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:12155503_12155504G>GA	uc021upl.1	-	3	878_879	c.712_713C>TC	c.(712-714)tctfs	p.S238fs	ZNF878_uc002mta.1_Frame_Shift_Ins_p.S285fs	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CGAACTGGGAGAAAAAAAGGCT	0.391												
ZNF709	163051	broad.mit.edu	37	19	12575800	12575800	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:12575799_12575799AT>A	uc002mtv.4	-	3	1098	c.937_937AT>T	c.(937-939)tgtfs	p.C313fs	ZNF709_uc002mtw.4_Frame_Shift_Del_p.C281fs|ZNF709_uc002mtx.4_Frame_Shift_Del_p.C313fs	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GCTTTCCCACATTTTTTACAT	0.373												
OR7C1	26664	broad.mit.edu	37	19	14910414	14910414	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:14910413_14910413CA>C	uc010xnz.2	-	0	536	c.536_536TG>G	c.(535-537)tgtfs	p.C179fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGTAGATCACAAAAAAAGTG	0.478												
OR7A10	390892	broad.mit.edu	37	19	14952157	14952157	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:14952156_14952156GA>G	uc002mzx.1	-	0	534	c.534_534TC>C	c.(532-534)ttcfs	p.F178fs		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TAATTTCACAGAAAAAATGAG	0.448												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
PSMC4	5704	broad.mit.edu	37	19	40480308	40480308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:40480307_40480307GC>G	uc002omq.3	+	3	466	c.429_429GC>G	c.(427-429)ctgfs	p.L143fs	PSMC4_uc002omr.3_Frame_Shift_Del_p.L112fs	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	143					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGACGTGCTGCCCCCCGAAG	0.622												
PPP1R13L	10848	broad.mit.edu	37	19	45895270	45895270	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:45895269_45895269GC>G	uc002pbn.3	-	7	1761	c.1684_1684GC>C	c.(1684-1686)ccgfs	p.P562fs	PPP1R13L_uc002pbm.3_Frame_Shift_Del_p.P141fs|PPP1R13L_uc002pbo.3_Frame_Shift_Del_p.P562fs	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	562	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTGGCTCCGGCCCCCCGGGC	0.701												
SLC8A2	6543	broad.mit.edu	37	19	47940742	47940742	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:47940741_47940741TA>T	uc010ele.3	-	6	2104	c.2088_2088TA>A	c.(2086-2088)ttafs	p.L696fs	SLC8A2_uc002pgx.3_Frame_Shift_Del_p.L696fs|SLC8A2_uc010xyq.2_Frame_Shift_Del_p.L452fs|SLC8A2_uc010xyr.2_Frame_Shift_Del_p.L159fs			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	696					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TAATTGCCTCTAAAAACTGCT	0.512												
PRR12	57479	broad.mit.edu	37	19	50099984	50099985	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:50099983_50099984T>TC	uc002poo.4	+	3	2391_2392	c.2391_2392T>TC	c.(2389-2394)cctcccfs	p.P797fs		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	488							DNA binding	p.Q800fs*26(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGCCTCCGCCTCCCCCCCAGCT	0.723												
ZNF808	388558	broad.mit.edu	37	19	53056441	53056442	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:53056440_53056441CAA>C	uc010epq.1	+	4	448_449	c.271_272CAA>C	c.(271-273)caafs	p.Q91fs	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	91	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGGGACATTGCAAAGACATCAA	0.376												
NLRP2	55655	broad.mit.edu	37	19	55512184	55512184	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:55512183_55512183GA>G	uc021vbq.1	+	12	3217	c.3106_3106GA>G	c.(3106-3108)gaafs	p.E1036fs	NLRP2_uc010yfp.2_Frame_Shift_Del_p.E1013fs|NLRP2_uc002qij.3_Frame_Shift_Del_p.E1036fs|NLRP2_uc010esp.3_Frame_Shift_Del_p.E1014fs|NLRP2_uc010esn.3_Frame_Shift_Del_p.E1012fs|NLRP2_uc010eso.3_Frame_Shift_Del_p.E1033fs	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	1036					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAAATAGAAGAAAAAAACCC	0.413												
PPP1R12C	54776	broad.mit.edu	37	19	55607456	55607456	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:55607455_55607455TG>T	uc002qix.3	-	7	1133	c.1117_1117CA>A	c.(1117-1119)atcfs	p.I373fs	PPP1R12C_uc010yfs.2_Frame_Shift_Del_p.I299fs|PPP1R12C_uc002qiy.3_Frame_Shift_Del_p.I373fs|Mir_324_uc021vbr.1_5'Flank	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	373						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCGTCCTGGATGGGGGGCCCC	0.642												
PEG3	5178	broad.mit.edu	37	19	57328919	57328919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:57328918_57328918AT>A	uc002qnu.2	-	6	1243	c.892_892AT>T	c.(892-894)tcafs	p.S298fs	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Frame_Shift_Del_p.S269fs|PEG3_uc002qnv.2_Frame_Shift_Del_p.S298fs|PEG3_uc002qnw.2_Frame_Shift_Del_p.S174fs|PEG3_uc002qnx.2_Frame_Shift_Del_p.S172fs|PEG3_uc010etr.2_Frame_Shift_Del_p.S298fs	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	298					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGGTGGGTTGATTTTTTGGCT	0.468												
ZNF749	388567	broad.mit.edu	37	19	57955516	57955516	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr19:57955515_57955515GT>G	uc002qoq.2	+	2	1253	c.999_999GT>G	c.(997-999)aagfs	p.K333fs		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTGTGGGAAGTTTTTTATGT	0.463												
C20orf160	140706	broad.mit.edu	37	20	30602812	30602812	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:30602811_30602811TC>T	uc002wxf.2	+	1	148	c.135_135TC>T	c.(133-135)tatfs	p.Y45fs		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	45										central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						TGCCCCTTTATCCCCCCGACT	0.627												
PIGT	51604	broad.mit.edu	37	20	44050026	44050027	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr20:44050025_44050026G>GC	uc002xoh.2	+	8	1126_1127	c.1036_1037G>GC	c.(1036-1038)gccfs	p.A346fs	PIGT_uc010ghd.2_Frame_Shift_Ins_p.A253fs|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Frame_Shift_Ins_p.A309fs|PIGT_uc010ghf.2_Frame_Shift_Ins_p.A299fs|PIGT_uc010zwz.2_Frame_Shift_Ins_p.A84fs|PIGT_uc010zww.2_Frame_Shift_Ins_p.A290fs|PIGT_uc010zwy.2_Frame_Shift_Ins_p.A244fs|PIGT_uc002xoj.2_Intron|PIGT_uc010zwu.2_Frame_Shift_Ins_p.A84fs|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Frame_Shift_Ins_p.A84fs|PIGT_uc010zwx.2_Frame_Shift_Ins_p.A181fs|PIGT_uc010zxa.2_Frame_Shift_Ins_p.A184fs|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Frame_Shift_Ins_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)				TTACACAGAGGCCCCCCCAGTG	0.574												
COL6A1	1291	broad.mit.edu	37	21	47423059	47423060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr21:47423058_47423059G>GC	uc002zhu.1	+	33	2561_2562	c.2459_2460G>GC	c.(2458-2460)tgcfs	p.C820fs	COL6A1_uc002zhv.1_Frame_Shift_Ins_p.C151fs	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	820	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GATTACACCTGCCCCAGTGAGT	0.629												
TSSK2	23617	broad.mit.edu	37	22	19119732	19119732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:19119731_19119731GC>G	uc002zow.2	+	0	1411	c.819_819GC>G	c.(817-819)cagfs	p.Q273fs	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	273					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CGTGGCTGCAGCCCCCCAAGC	0.622												
OSBP2	23762	broad.mit.edu	37	22	31289120	31289121	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chr22:31289119_31289120A>AC	uc003aiy.1	+	8	1984_1985	c.1880_1881A>AC	c.(1879-1881)cacfs	p.H627fs	OSBP2_uc011ala.1_Frame_Shift_Ins_p.H461fs|OSBP2_uc010gwc.1_Frame_Shift_Ins_p.H454fs|OSBP2_uc011alb.1_Frame_Shift_Ins_p.H578fs|OSBP2_uc003aiz.1_Frame_Shift_Ins_p.H626fs|OSBP2_uc003aja.1_Frame_Shift_Ins_p.H260fs|OSBP2_uc011alc.2_Frame_Shift_Ins_p.H369fs|OSBP2_uc011ald.1_Frame_Shift_Ins_p.H171fs|OSBP2_uc010gwd.1_Frame_Shift_Ins_p.H172fs	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	627					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594												
ATXN3L	92552	broad.mit.edu	37	X	13337421	13337421	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:13337420_13337420CT>C	uc010ned.3	-	0	1099	c.634_634AG>G	c.(634-636)gtafs	p.V212fs		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	212					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TCTTCTGATACTTTTTCAAGG	0.383												
FANCB	2187	broad.mit.edu	37	X	14863040	14863041	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:14863039_14863040T>TA	uc004cwg.1	-	7	2133_2134	c.1865_1866A>TA	c.(1864-1866)ttafs	p.L622fs	FANCB_uc004cwh.1_Frame_Shift_Ins_p.L622fs	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	622					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CTTCTAGACTTAAAAAAACTCT	0.332								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
SSX1	6756	broad.mit.edu	37	X	48117223	48117223	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:48117222_48117222GA>G	uc004djb.1	+	2	202	c.111_111GA>G	c.(109-111)tggfs	p.W37fs		NM_005635	NP_005626	Q16384	SSX1_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.	37	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGAAAGAGTGGAAAAAGATGA	0.348			T	SS18	synovial sarcoma							
TFE3	7030	broad.mit.edu	37	X	48887952	48887953	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:48887951_48887952T>TC	uc004dmb.3	-	9	1683_1684	c.1445_1446A>GA	c.(1444-1446)ggafs	p.G482fs	TFE3_uc004dmc.3_Frame_Shift_Ins_p.G377fs	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""							
KDM5C	8242	broad.mit.edu	37	X	53231107	53231107	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:53231106_53231106CG>C	uc004drz.3	-	12	2329	c.1796_1796CG>G	c.(1795-1797)cgtfs	p.R599fs	KDM5C_uc022bxe.1_Frame_Shift_Del_p.R532fs|KDM5C_uc004dsa.3_Frame_Shift_Del_p.R598fs	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	599	JmjC.				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			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GTGGTAAGCACGGGGGAAGGT	0.512			"""N, F, S"""		clear cell renal carcinoma							
OGT	8473	broad.mit.edu	37	X	70787462	70787463	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:70787461_70787462A>AT	uc004eaa.2	+	19	2939_2940	c.2701_2702A>AT	c.(2701-2703)attfs	p.I901fs	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Frame_Shift_Ins_p.I891fs|OGT_uc004eac.3_Frame_Shift_Ins_p.I762fs|OGT_uc004ead.3_Frame_Shift_Ins_p.I520fs	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	901					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GAACCGTATCATTTTTTCACCT	0.495												
ATRX	546	broad.mit.edu	37	X	76918921	76918921	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:76918920_76918920CT>C	uc004ecp.4	-	11	4303	c.4071_4071AG>G	c.(4069-4071)aagfs	p.K1357fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1319fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1142fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K1289fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1357					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TAGGCTTTGTCTTTTTTTCTT	0.388			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
PLXNA3	55558	broad.mit.edu	37	X	153696202	153696202	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G8-01A-11D-A25D-08	TCGA-HU-A4G8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a17300cc-85e5-4bca-b0dc-fa26a81cb5f8	c1713247-24ff-4321-9f17-7c48dde00b22	g.chrX:153696201_153696201CG>C	uc004flm.3	+	20	3850	c.3677_3677CG>C	c.(3676-3678)gcgfs	p.A1226fs		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1226					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCTGGCGGCGGGGGGTGGG	0.687