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
TTLL10	254173	broad.mit.edu	37	1	1120454	1120454	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:1120454G>A	uc001acy.2	+	13	1517	c.1366G>A	c.(1366-1368)GGC>AGC	p.G456S	TTLL10_uc010nyg.1_Missense_Mutation_p.G456S|TTLL10_uc001acz.1_Missense_Mutation_p.G383S	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	456	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(1)	1	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;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|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;0.199)		GAAGGCCCGGGGCCTCGCCAA	0.617												
SDF4	51150	broad.mit.edu	37	1	1152973	1152973	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:1152973G>A	uc001adh.3	-	7	1337	c.1008C>T	c.(1006-1008)CCC>CCT	p.P336P	SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_3'UTR|SDF4_uc009vjv.2_Silent_p.P214P|SDF4_uc009vjw.2_RNA	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	336	6 (Potential).|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).|EF-hand 6.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding			upper_aerodigestive_tract(1)|large_intestine(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCACCTCCTCGGGCTCCAGGT	0.547												
CPSF3L	54973	broad.mit.edu	37	1	1250257	1250257	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:1250257G>A	uc001aee.1	-	7	707	c.649C>T	c.(649-651)CGG>TGG	p.R217W	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.R223W|CPSF3L_uc009vjz.1_Missense_Mutation_p.R195W|CPSF3L_uc010nyj.1_Missense_Mutation_p.R188W|CPSF3L_uc001aeg.1_Missense_Mutation_p.R93W|CPSF3L_uc001aeh.1_Missense_Mutation_p.R116W|CPSF3L_uc001aei.1_Missense_Mutation_p.R119W|CPSF3L_uc001aej.1_Missense_Mutation_p.R44W|CPSF3L_uc001aek.1_5'UTR	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	217						Golgi apparatus|nucleus	hydrolase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TCTCGCTCCCGGCAGCGCTTG	0.637												
MXRA8	54587	broad.mit.edu	37	1	1290256	1290256	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:1290256C>T	uc001aew.2	-	5	786	c.755G>A	c.(754-756)CGC>CAC	p.R252H	MXRA8_uc001aex.3_Missense_Mutation_p.R252H|MXRA8_uc001aey.3_Missense_Mutation_p.R252H|MXRA8_uc010nyl.1_Missense_Mutation_p.R252H|MXRA8_uc001aez.2_Missense_Mutation_p.R151H|MXRA8_uc001afa.2_Missense_Mutation_p.R243H	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	252	Ig-like V-type 2.|Extracellular (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)		GAAGTCACCGCGCTCAAAGGC	0.692												
PIK3CD	5293	broad.mit.edu	37	1	9781280	9781280	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:9781280C>T	uc001aqb.3	+	14	1993	c.1785C>T	c.(1783-1785)TTC>TTT	p.F595F	PIK3CD_uc010oaf.1_Silent_p.F594F|PIK3CD_uc001aqe.3_Silent_p.F619F	NM_005026	NP_005017	O00329	PK3CD_HUMAN	catalytic phosphatidylinositol 3-kinase delta	595					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(4)|skin(2)|central_nervous_system(1)	7	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TAGGCTCCTTCGCCATCAAGT	0.652												
CLSTN1	22883	broad.mit.edu	37	1	9791937	9791937	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:9791937C>A	uc001aqh.2	-	17	3204	c.2445G>T	c.(2443-2445)ACG>ACT	p.T815T	CLSTN1_uc001aqi.2_Silent_p.T805T|CLSTN1_uc010oag.1_Silent_p.T796T|CLSTN1_uc001aqf.2_Silent_p.T51T	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	815	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGGTTGGCCGTGTGGATTA	0.582												
KIF1B	23095	broad.mit.edu	37	1	10386200	10386200	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:10386200C>T	uc001aqx.3	+	27	2909	c.2707C>T	c.(2707-2709)CGC>TGC	p.R903C	KIF1B_uc001aqw.3_Missense_Mutation_p.R857C|KIF1B_uc001aqy.2_Missense_Mutation_p.R877C|KIF1B_uc001aqz.2_Missense_Mutation_p.R903C|KIF1B_uc001ara.2_Missense_Mutation_p.R863C|KIF1B_uc001arb.2_Missense_Mutation_p.R889C	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	903					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGTGAACGAGCGCCTTGCCGA	0.537												
PGD	5226	broad.mit.edu	37	1	10479510	10479510	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:10479510G>A	uc001arc.2	+	12	1336	c.1246G>A	c.(1246-1248)GCT>ACT	p.A416T	PGD_uc001ard.2_Missense_Mutation_p.A336T|PGD_uc010oak.1_Missense_Mutation_p.A394T|PGD_uc010oal.1_Missense_Mutation_p.A403T	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	416					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		TGGGGTCCAGGCTGGCATTCC	0.572												
UBIAD1	29914	broad.mit.edu	37	1	11333902	11333902	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:11333902A>G	uc001asg.2	+	1	648	c.314A>G	c.(313-315)TAT>TGT	p.Y105C		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	105					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity				0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		AACACTTACTATGACTTTTCC	0.557												
C1orf187	374946	broad.mit.edu	37	1	11779718	11779718	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:11779718G>A	uc001asr.1	+	7	1155	c.1015G>A	c.(1015-1017)GCC>ACC	p.A339T	uc001ass.1_5'Flank	NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	339					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		GCCCGAGACGGCCAACGGCGA	0.637											OREG0013102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
VPS13D	55187	broad.mit.edu	37	1	12387745	12387745	+	Silent	SNP	G	G	A	rs147189508		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:12387745G>A	uc001atv.2	+	36	8172	c.8031G>A	c.(8029-8031)GCG>GCA	p.A2677A	VPS13D_uc001atw.2_Silent_p.A2677A|VPS13D_uc001atx.2_Silent_p.A1865A|VPS13D_uc001aty.1_Silent_p.A415A	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2677					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTAAGAATGCGGAACCTCTGA	0.502												
VPS13D	55187	broad.mit.edu	37	1	12433859	12433859	+	Silent	SNP	G	G	A	rs151287134	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:12433859G>A	uc001atv.2	+	55	11004	c.10863G>A	c.(10861-10863)GCG>GCA	p.A3621A	VPS13D_uc001atw.2_Silent_p.A3596A|VPS13D_uc001atx.2_Silent_p.A2808A|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3620					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTACCTGTGCGGAGCTCGTTT	0.323												
PRAMEF12	390999	broad.mit.edu	37	1	12835827	12835827	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:12835827G>A	uc001aui.2	+	2	456	c.429G>A	c.(427-429)CAG>CAA	p.Q143Q		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	143										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGCAGCAGCCCTTGATGG	0.547												
PDPN	10630	broad.mit.edu	37	1	13910346	13910346	+	Missense_Mutation	SNP	C	C	T	rs113350533	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:13910346C>T	uc001avd.2	+	1	95	c.46C>T	c.(46-48)CGG>TGG	p.R16W	PDPN_uc001avc.2_Missense_Mutation_p.R16W|PDPN_uc009vob.2_5'Flank|PDPN_uc009voc.2_5'Flank|PDPN_uc001ave.2_5'Flank|PDPN_uc001avf.2_5'Flank	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	lung type-I cell membrane-associated	Error:Variant_position_missing_in_Q86YL7_after_alignment					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				ovary(2)	2	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GTTTGCTGTCCGGCTGCCTAG	0.687												
CELA2A	63036	broad.mit.edu	37	1	15788097	15788097	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:15788097C>A	uc001awk.2	+	3	197	c.171C>A	c.(169-171)ACC>ACA	p.T57T		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	57	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						GGTACCACACCTGCGGAGGGT	0.607												
EPHA2	1969	broad.mit.edu	37	1	16459797	16459797	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:16459797G>A	uc001aya.1	-	11	2068	c.1931C>T	c.(1930-1932)GCC>GTC	p.A644V		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	644	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CGTCTTGATGGCCACCGGCAC	0.612												
ARHGEF19	128272	broad.mit.edu	37	1	16532039	16532039	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:16532039C>A	uc001ayc.1	-	9	1712	c.1575G>T	c.(1573-1575)TTG>TTT	p.L525F	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Missense_Mutation_p.L2F	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	525	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GTACCTCCACCAACATCTTGA	0.627												
IGSF21	84966	broad.mit.edu	37	1	18661448	18661448	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:18661448G>A	uc001bau.1	+	4	751	c.368G>A	c.(367-369)CGC>CAC	p.R123H		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	123	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATCTACGACCGCGCCACCAGG	0.622												
UBR4	23352	broad.mit.edu	37	1	19426940	19426940	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:19426940C>A	uc001bbi.2	-	89	13155	c.13151G>T	c.(13150-13152)AGG>ATG	p.R4384M	UBR4_uc010ocv.1_5'Flank|UBR4_uc009vph.2_Missense_Mutation_p.R18M|UBR4_uc010ocw.1_Missense_Mutation_p.R75M|UBR4_uc001bbg.2_Missense_Mutation_p.R95M|UBR4_uc001bbh.2_Missense_Mutation_p.R93M	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4384					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTTATATCCCTCATCAGCGG	0.537												
UBR4	23352	broad.mit.edu	37	1	19472403	19472403	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:19472403G>A	uc001bbi.2	-	53	7833	c.7829C>T	c.(7828-7830)CCG>CTG	p.P2610L	UBR4_uc001bbk.1_Missense_Mutation_p.P292L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2610					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGCTTCTGCGGTTCCTTCCC	0.418												
UBR4	23352	broad.mit.edu	37	1	19482887	19482887	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:19482887C>A	uc001bbi.2	-	42	5954	c.5950G>T	c.(5950-5952)GGC>TGC	p.G1984C	UBR4_uc001bbl.1_Translation_Start_Site|UBR4_uc001bbm.1_Missense_Mutation_p.G1195C	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1984					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAAACAGAGCCTGAGCTACTA	0.438												
KIF17	57576	broad.mit.edu	37	1	20992758	20992758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:20992758G>A	uc001bdr.3	-	14	2978	c.2860C>T	c.(2860-2862)CGA>TGA	p.R954*	KIF17_uc001bdp.3_Nonsense_Mutation_p.R231*|KIF17_uc001bdq.3_Nonsense_Mutation_p.R232*|KIF17_uc009vpx.2_Nonsense_Mutation_p.R324*|KIF17_uc001bds.3_Nonsense_Mutation_p.R953*	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	954					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGCTTAGATCGGAAGTAGTTG	0.607												
RAP1GAP	5909	broad.mit.edu	37	1	21938056	21938056	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:21938056G>A	uc001bex.2	-	13	990	c.732C>T	c.(730-732)GAC>GAT	p.D244D	RAP1GAP_uc001bev.2_Silent_p.D244D|RAP1GAP_uc001bew.2_Silent_p.D308D|RAP1GAP_uc001bey.2_Silent_p.D244D	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	244	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CGTGGGTCACGTCCAGGCCTC	0.662												
HSPG2	3339	broad.mit.edu	37	1	22160083	22160083	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:22160083T>C	uc001bfj.2	-	79	10895	c.10855A>G	c.(10855-10857)AGC>GGC	p.S3619G	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.S3620G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3619	Ig-like C2-type 22.				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)	TCCAGGCGGCTGTCAGGTGGC	0.647												
HSPG2	3339	broad.mit.edu	37	1	22205552	22205552	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:22205552G>A	uc001bfj.2	-	18	2446	c.2406C>T	c.(2404-2406)GAC>GAT	p.D802D	HSPG2_uc009vqd.2_Silent_p.D803D	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	802	Laminin EGF-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCTTCATGGCGTCCCCAAAGA	0.617												
GRHL3	57822	broad.mit.edu	37	1	24669391	24669391	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:24669391G>A	uc001biy.2	+	11	1356	c.1310G>A	c.(1309-1311)GGC>GAC	p.G437D	GRHL3_uc001bix.2_Missense_Mutation_p.G432D|GRHL3_uc001biz.2_Missense_Mutation_p.G339D	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	432					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)		GGCGTCAAGGGCTGCCTGCTG	0.622												
ARID1A	8289	broad.mit.edu	37	1	27097630	27097630	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:27097630G>A	uc001bmv.1	+	12	3592	c.3219G>A	c.(3217-3219)TGG>TGA	p.W1073*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.W1073*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.W1073*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.W690*|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1073	ARID.			W->A: Partial loss of DNA-binding activity. Complete loss of activity; when associated with A-1096.	androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACAAAAAATGGCGGGAACTTG	0.488			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
SYTL1	84958	broad.mit.edu	37	1	27673938	27673938	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:27673938C>A	uc001bnw.1	+	3	385	c.218C>A	c.(217-219)CCT>CAT	p.P73H	SYTL1_uc001bnv.1_Missense_Mutation_p.P73H|SYTL1_uc009vsu.1_Missense_Mutation_p.P73H|SYTL1_uc001bnx.2_Missense_Mutation_p.P73H|SYTL1_uc009vsv.1_Missense_Mutation_p.P73H	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	73	RabBD.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			ovary(1)	1		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGCAGACCCTGGGCAGCTG	0.498												
AHDC1	27245	broad.mit.edu	37	1	27876334	27876334	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:27876334C>A	uc009vsy.2	-	6	3262	c.2293G>T	c.(2293-2295)GGT>TGT	p.G765C	AHDC1_uc009vsz.1_Missense_Mutation_p.G765C	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	765	Gly-rich.						DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CACTCAGCACCTGCCTCCCCA	0.652												
HCRTR1	3061	broad.mit.edu	37	1	32090630	32090630	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:32090630G>A	uc009vtx.2	+	8	1383	c.998G>A	c.(997-999)CGC>CAC	p.R333H	HCRTR1_uc001btb.2_Missense_Mutation_p.R158H|HCRTR1_uc001btc.3_Missense_Mutation_p.R247H|HCRTR1_uc001btd.2_Missense_Mutation_p.R333H|HCRTR1_uc010ogl.1_Missense_Mutation_p.R333H	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	333	Extracellular (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GCCAGTGACCGCGAAGCTGTC	0.597												
RBBP4	5928	broad.mit.edu	37	1	33134427	33134427	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:33134427G>T	uc001bvr.2	+	5	731	c.572G>T	c.(571-573)GGG>GTG	p.G191V	RBBP4_uc001bvs.2_Missense_Mutation_p.G190V|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.G156V	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	191	WD 2.				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AATCTCAGTGGGCACTTACTT	0.483												
KIAA1522	57648	broad.mit.edu	37	1	33237694	33237694	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:33237694T>C	uc001bvv.2	+	6	2873	c.2737T>C	c.(2737-2739)TTC>CTC	p.F913L	KIAA1522_uc001bvu.1_Missense_Mutation_p.F972L|KIAA1522_uc010ohm.1_Missense_Mutation_p.F924L|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	913	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AACGGCCAGTTTCATCTTCTC	0.657												
DLGAP3	58512	broad.mit.edu	37	1	35334674	35334674	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:35334674G>A	uc001byc.2	-	7	2017	c.2017C>T	c.(2017-2019)CGC>TGC	p.R673C		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	673					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CTATTGGAGCGCTTGAACCTT	0.632												
MACF1	23499	broad.mit.edu	37	1	39797522	39797522	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:39797522A>T	uc010oiu.1	+	1	713	c.582A>T	c.(580-582)GAA>GAT	p.E194D	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1759					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTTCAGGAAGGGCTAATAG	0.488												
NT5C1A	84618	broad.mit.edu	37	1	40131256	40131256	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:40131256C>T	uc001cdq.1	-	3	370	c.370G>A	c.(370-372)GTC>ATC	p.V124I		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	124					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|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;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTCATGAGGACGATGTCGAAG	0.582												
OXCT2	64064	broad.mit.edu	37	1	40236095	40236095	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:40236095C>T	uc001ceb.1	-	1	926	c.833G>A	c.(832-834)CGA>CAA	p.R278Q	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Missense_Mutation_p.R272Q	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2 precursor	278					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			pancreas(1)	1	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	GCGCTCAATTCGTTTCTCGTA	0.517											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLFNL1	200172	broad.mit.edu	37	1	41486228	41486228	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:41486228C>T	uc001cgm.1	-	2	325	c.105G>A	c.(103-105)ACG>ACA	p.T35T	SLFNL1_uc009vwf.1_Silent_p.T35T|SLFNL1_uc001cgn.1_Silent_p.T35T|SLFNL1_uc009vwg.1_Silent_p.T35T	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	35							ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CAGAGTACTCCGTCAGGGACT	0.622												
HIVEP3	59269	broad.mit.edu	37	1	42049025	42049025	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:42049025C>T	uc001cgz.3	-	4	2657	c.1444G>A	c.(1444-1446)GAC>AAC	p.D482N	HIVEP3_uc001cha.3_Missense_Mutation_p.D482N|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	482	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTCACGCTGTCGATCTCGCTG	0.612												
CCDC30	728621	broad.mit.edu	37	1	43032075	43032075	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:43032075C>T	uc009vwk.1	+	6	894	c.784C>T	c.(784-786)CTT>TTT	p.L262F	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Missense_Mutation_p.L51F|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Missense_Mutation_p.L76F	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	262	Potential.										0						TGAAAATGAGCTTCGATATGA	0.403												
CLDN19	149461	broad.mit.edu	37	1	43204116	43204116	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:43204116C>T	uc001cht.1	-	2	555	c.364G>A	c.(364-366)GGG>AGG	p.G122R	CLDN19_uc001chu.2_Missense_Mutation_p.G122R|CLDN19_uc010ojv.1_Missense_Mutation_p.G122R	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	122	Helical; (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGGCTCCCCCGGCGATGGCA	0.657												
TIE1	7075	broad.mit.edu	37	1	43774660	43774660	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:43774660G>A	uc001ciu.2	+	8	1125	c.1046G>A	c.(1045-1047)CGG>CAG	p.R349Q	TIE1_uc010okd.1_Missense_Mutation_p.R349Q|TIE1_uc010oke.1_Missense_Mutation_p.R304Q|TIE1_uc009vwq.2_Missense_Mutation_p.R305Q|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	349	Extracellular (Potential).				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)				TCCCCAGACCGGATCCCCCAG	0.587												
KIAA0467	23334	broad.mit.edu	37	1	43896975	43896975	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:43896975A>G	uc001cjk.1	+	19	2721	c.2259A>G	c.(2257-2259)CCA>CCG	p.P753P		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1652						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACGATCCCCAGGGCAGCCAT	0.522												
KIAA0467	23334	broad.mit.edu	37	1	43908165	43908165	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:43908165G>A	uc001cjk.1	+	43	5792	c.5330G>A	c.(5329-5331)CGA>CAA	p.R1777Q		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2676						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCATTGGGCCGAGCGCTGGTT	0.602												
SLC6A9	6536	broad.mit.edu	37	1	44467245	44467245	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:44467245G>A	uc001cll.2	-	9	1428	c.1236C>T	c.(1234-1236)TTC>TTT	p.F412F	SLC6A9_uc009vxe.2_Silent_p.F268F|SLC6A9_uc010okm.1_Silent_p.F339F|SLC6A9_uc001clm.2_Silent_p.F358F|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.F343F|SLC6A9_uc001cln.2_Silent_p.F339F|SLC6A9_uc010oko.1_Silent_p.F228F|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	412	Helical; Name=7; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGAAGATGACGAAGCCAGCAT	0.587												
TESK2	10420	broad.mit.edu	37	1	45811603	45811603	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:45811603G>A	uc001cns.1	-	10	1346	c.943C>T	c.(943-945)CGC>TGC	p.R315C	TESK2_uc009vxr.1_Missense_Mutation_p.R286C|TESK2_uc010olo.1_Missense_Mutation_p.R232C|TESK2_uc009vxs.1_Missense_Mutation_p.R107C	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	testis-specific protein kinase 2	315					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(2)|pancreas(1)	5	Acute lymphoblastic leukemia(166;0.155)					TCCTGTAGGCGGCTCAGAATT	0.547												
MOBKL2C	148932	broad.mit.edu	37	1	47078943	47078943	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:47078943C>T	uc001cqf.3	-	2	282	c.51G>A	c.(49-51)CCG>CCA	p.P17P	MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Silent_p.P69P	NM_201403	NP_958805	Q70IA8	MOL2C_HUMAN	MOB1, Mps One Binder kinase activator-like 2C	17							metal ion binding			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					AGCGCTTCCGCGGCCGGAACG	0.647												
FOXD2	2306	broad.mit.edu	37	1	47904538	47904538	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:47904538G>A	uc001crm.2	+	1	2850	c.731G>A	c.(730-732)CGT>CAT	p.R244H		NM_004474	NP_004465	O60548	FOXD2_HUMAN	forkhead box D2	244	Pro-rich.				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				READ - Rectum adenocarcinoma(2;0.0908)		CTGCTGCTGCGTggcggggcc	0.637												
BEND5	79656	broad.mit.edu	37	1	49224924	49224924	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:49224924C>T	uc001crx.3	-	3	437	c.393G>A	c.(391-393)GCG>GCA	p.A131A	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_5'UTR	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	131										skin(1)	1						TGCTCTTGTGCGCCACTTCGC	0.587												
DMRTA2	63950	broad.mit.edu	37	1	50884936	50884936	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:50884936C>T	uc010ona.1	-	2	1126	c.1030G>A	c.(1030-1032)GTG>ATG	p.V344M	DMRTA2_uc010onb.1_Missense_Mutation_p.V344M	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	344	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						ATGGCCTGCACCACGTCGCCG	0.726												
FAF1	11124	broad.mit.edu	37	1	50941230	50941230	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:50941230G>A	uc009vyx.1	-	19	1838	c.1775C>T	c.(1774-1776)GCC>GTC	p.A592V	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.A592V|FAF1_uc010onc.1_Missense_Mutation_p.A350V	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	592	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTTGTTGCTGGCCAGGAAACG	0.517												
CYB5RL	606495	broad.mit.edu	37	1	54661202	54661202	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:54661202C>T	uc009vzo.2	-	3	408	c.88G>A	c.(88-90)GGC>AGC	p.G30S	CYB5RL_uc001cww.2_5'UTR|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_5'UTR	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	30							cytochrome-b5 reductase activity				0						CAGCCACTGCCGCAGCACTGG	0.622												
LEPR	3953	broad.mit.edu	37	1	66102159	66102159	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:66102159G>A	uc001dci.2	+	20	3161	c.2959G>A	c.(2959-2961)GCC>ACC	p.A987T	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	987	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTTAAATACGCCACGCTGAT	0.428												
PTGER3	5733	broad.mit.edu	37	1	71512649	71512649	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:71512649G>A	uc001dfg.1	-	1	843	c.612C>T	c.(610-612)CCC>CCT	p.P204P	PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Silent_p.P204P|PTGER3_uc001dfl.1_Silent_p.P204P|PTGER3_uc009wbm.1_Silent_p.P204P|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Silent_p.P204P|PTGER3_uc009wbn.1_Silent_p.P204P|PTGER3_uc009wbo.2_Silent_p.P204P|PTGER3_uc001dfo.2_Silent_p.P204P|PTGER3_uc001dfp.1_Silent_p.P204P|PTGER3_uc001dfq.2_Silent_p.P204P|uc001dfr.2_RNA	NM_198714	NP_942007	P43115	PE2R3_HUMAN	prostaglandin E receptor 3, subtype EP3 isoform	204	Extracellular (Potential).				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			pancreas(1)|lung(1)|skin(1)	3					Bimatoprost(DB00905)	ACCACGTCCCGGGCCACTGGA	0.682												
TNNI3K	51086	broad.mit.edu	37	1	74834918	74834918	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:74834918G>A	uc001dgf.1	+	15	1493	c.1442G>A	c.(1441-1443)CGA>CAA	p.R481Q	TNNI3K_uc001dgc.1_Missense_Mutation_p.R582Q|TNNI3K_uc001dgd.2_Missense_Mutation_p.R582Q|TNNI3K_uc001dge.1_Missense_Mutation_p.R582Q	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	481	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						TATAAAGGACGATGCAGAAAT	0.313												
SLC44A5	204962	broad.mit.edu	37	1	75679471	75679471	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:75679471C>A	uc001dgu.2	-	22	2025	c.1881G>T	c.(1879-1881)CTG>CTT	p.L627L	SLC44A5_uc001dgt.2_Silent_p.L627L|SLC44A5_uc001dgs.2_Silent_p.L585L|SLC44A5_uc001dgr.2_Silent_p.L585L|SLC44A5_uc010oqz.1_Silent_p.L666L|SLC44A5_uc010ora.1_Silent_p.L621L|SLC44A5_uc010orb.1_Silent_p.L497L	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	627	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						ATAGGAAGGCCAGAACACCTA	0.348												
LRRC8B	23507	broad.mit.edu	37	1	90049769	90049769	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:90049769T>C	uc001dni.2	+	7	2067	c.1560T>C	c.(1558-1560)TGT>TGC	p.C520C	LRRC8B_uc001dnh.2_Silent_p.C520C|LRRC8B_uc001dnj.2_Silent_p.C520C	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	520	LRR 3.					integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TTTCGGGCTGTGTTCTCCCTG	0.443												
ABCA4	24	broad.mit.edu	37	1	94528700	94528700	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:94528700G>A	uc001dqh.2	-	12	1832	c.1728C>T	c.(1726-1728)GAC>GAT	p.D576D	ABCA4_uc010otn.1_Silent_p.D576D	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	576	Extracellular.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTCCACCACGTCTATGTCCA	0.463												
FNDC7	163479	broad.mit.edu	37	1	109270660	109270660	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:109270660T>C	uc001dvx.2	+	7	1342	c.1342T>C	c.(1342-1344)TCA>CCA	p.S448P	FNDC7_uc010ova.1_Missense_Mutation_p.S215P	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	449	Fibronectin type-III 5.					extracellular region				ovary(1)|skin(1)	2		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CAGCAATATGTCATGTACTCC	0.488												
CELSR2	1952	broad.mit.edu	37	1	109794458	109794458	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:109794458G>A	uc001dxa.3	+	1	1818	c.1757G>A	c.(1756-1758)GGC>GAC	p.G586D		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	586	Cadherin 4.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGAGACCATGGCACTCCAGCA	0.542												
GNAT2	2780	broad.mit.edu	37	1	110155418	110155418	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:110155418C>A	uc001dya.2	-	1	288	c.75G>T	c.(73-75)GAG>GAT	p.E25D		NM_005272	NP_005263	P19087	GNAT2_HUMAN	guanine nucleotide binding protein, alpha	25					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TATCAGCATCCTCCTGCAGCT	0.512												
GNAT2	2780	broad.mit.edu	37	1	110155446	110155446	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:110155446G>T	uc001dya.2	-	1	260	c.47C>A	c.(46-48)TCC>TAC	p.S16Y		NM_005272	NP_005263	P19087	GNAT2_HUMAN	guanine nucleotide binding protein, alpha	16					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TAGCTCCTTGGACCTCTTGGC	0.512												
EPS8L3	79574	broad.mit.edu	37	1	110293322	110293322	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:110293322C>T	uc001dyr.1	-	18	1875	c.1730G>A	c.(1729-1731)CGA>CAA	p.R577Q	EPS8L3_uc001dys.1_Missense_Mutation_p.R547Q|EPS8L3_uc001dyq.1_Missense_Mutation_p.R578Q|EPS8L3_uc009wfm.1_Missense_Mutation_p.R514Q	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	577						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGACAGGATTCGTGGGGCCTC	0.607												
EPS8L3	79574	broad.mit.edu	37	1	110300972	110300972	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:110300972C>T	uc001dyr.1	-	8	828	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	EPS8L3_uc001dys.1_Missense_Mutation_p.R228Q|EPS8L3_uc001dyq.1_Missense_Mutation_p.R229Q|EPS8L3_uc009wfm.1_Missense_Mutation_p.R195Q|EPS8L3_uc009wfn.1_Missense_Mutation_p.R203Q|EPS8L3_uc009wfo.1_Missense_Mutation_p.R175Q	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	228	Pro-rich.					cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGAAGAGGACCGCCTTGGAGG	0.617												
KCNC4	3749	broad.mit.edu	37	1	110765712	110765712	+	Missense_Mutation	SNP	G	G	A	rs144762287	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:110765712G>A	uc001dzh.2	+	2	862	c.805G>A	c.(805-807)GTG>ATG	p.V269M	KCNC4_uc001dzf.2_Missense_Mutation_p.V269M|KCNC4_uc009wfr.2_Missense_Mutation_p.V269M|KCNC4_uc001dzg.2_Missense_Mutation_p.V269M|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	269					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CATCACCAGCGTGCACTTCCG	0.572												
HBXIP	10542	broad.mit.edu	37	1	110946654	110946654	+	Silent	SNP	G	G	A	rs149410124		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:110946654G>A	uc001dzr.2	-	3	406	c.348C>T	c.(346-348)CGC>CGT	p.R116R		NM_006402	NP_006393	O43504	HBXIP_HUMAN	hepatitis B virus x-interacting protein	34					anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding			large_intestine(1)|ovary(1)|pancreas(1)	3		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACAGGGTCCCGCGGCCTGGAA	0.448												
KCNA3	3738	broad.mit.edu	37	1	111216557	111216557	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:111216557G>C	uc001dzv.1	-	1	1099	c.875C>G	c.(874-876)TCC>TGC	p.S292C		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	292						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGGGATCGGAGAAGCTGGA	0.612												
ST7L	54879	broad.mit.edu	37	1	113093294	113093294	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:113093294G>A	uc001ecd.2	-	13	1723	c.1418C>T	c.(1417-1419)CCG>CTG	p.P473L	ST7L_uc009wgh.2_RNA|ST7L_uc001ecc.2_Missense_Mutation_p.P290L|ST7L_uc010owg.1_Missense_Mutation_p.P408L|ST7L_uc010owh.1_Missense_Mutation_p.P267L|ST7L_uc001ece.2_Intron|ST7L_uc001ecf.2_Missense_Mutation_p.P456L|ST7L_uc001ecg.2_RNA|ST7L_uc010owi.1_Missense_Mutation_p.P408L|ST7L_uc001ech.2_Missense_Mutation_p.P456L|ST7L_uc001eci.2_Missense_Mutation_p.P473L|ST7L_uc009wgi.1_Intron|ST7L_uc010owj.1_3'UTR	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7-like isoform 1	473					negative regulation of cell growth	integral to membrane	binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCTCTAACGGGTATGGAAT	0.338												
PHTF1	10745	broad.mit.edu	37	1	114254420	114254420	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:114254420C>T	uc009wgp.1	-	9	1447	c.995G>A	c.(994-996)CGG>CAG	p.R332Q	PHTF1_uc001edn.2_Missense_Mutation_p.R332Q|PHTF1_uc001edm.2_Missense_Mutation_p.R89Q|PHTF1_uc001edo.1_Missense_Mutation_p.R89Q	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	332						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCTGAATCCCGCACAATATG	0.368												
AMPD1	270	broad.mit.edu	37	1	115229524	115229524	+	Missense_Mutation	SNP	G	G	A	rs12566550		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:115229524G>A	uc001efe.1	-	4	307	c.223C>T	c.(223-225)CGT>TGT	p.R75C	AMPD1_uc001eff.1_Missense_Mutation_p.R71C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	75					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CCTTGGAAACGCTTTTTTCTG	0.353												
WARS2	10352	broad.mit.edu	37	1	119575732	119575732	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:119575732C>T	uc001ehn.2	-	6	913	c.885G>A	c.(883-885)GCG>GCA	p.A295A	WARS2_uc010oxf.1_Silent_p.A201A|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Silent_p.A238A|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	295					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TGTTCATGCCCGCGCTGCGGC	0.597												
PDE4DIP	9659	broad.mit.edu	37	1	144915560	144915560	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:144915560C>T	uc001elw.3	-	14	2156	c.1865G>A	c.(1864-1866)CGA>CAA	p.R622Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R688Q|PDE4DIP_uc001emc.1_Missense_Mutation_p.R622Q|PDE4DIP_uc001emd.1_Missense_Mutation_p.R622Q|PDE4DIP_uc001emb.1_Missense_Mutation_p.R785Q|PDE4DIP_uc001eme.1_Missense_Mutation_p.R151Q|PDE4DIP_uc001emf.1_Missense_Mutation_p.R407Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	622	Potential.				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)		CCTTTCCTTTCGCTGTAGACG	0.493			T	PDGFRB	MPD							
TARS2	80222	broad.mit.edu	37	1	150463092	150463092	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:150463092A>G	uc001euq.2	+	4	410	c.403A>G	c.(403-405)AGC>GGC	p.S135G	TARS2_uc010pcd.1_Intron|TARS2_uc001eur.2_Missense_Mutation_p.S135G|TARS2_uc009wlt.2_Intron|TARS2_uc009wls.2_Missense_Mutation_p.S135G	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	135					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTGGCACTCCAGCACCCATGT	0.488												
CTSK	1513	broad.mit.edu	37	1	150769275	150769275	+	Nonstop_Mutation	SNP	T	T	C	rs74315301		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:150769275T>C	uc001evp.1	-	8	1114	c.990A>G	c.(988-990)TGA>TGG	p.*330W	CTSK_uc001evq.1_Nonstop_Mutation_p.*241W	NM_000396	NP_000387	P43235	CATK_HUMAN	cathepsin K preproprotein	330					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			skin(1)	1	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGGCTGGAGTCACATCTTGG	0.498												
BNIPL	149428	broad.mit.edu	37	1	151011319	151011319	+	Missense_Mutation	SNP	C	C	T	rs138679997		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:151011319C>T	uc001ewl.2	+	4	423	c.250C>T	c.(250-252)CGC>TGC	p.R84C	BNIPL_uc009wmi.2_Missense_Mutation_p.R2C|BNIPL_uc009wmj.2_RNA	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein	84					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|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)			GCGCCCCATGCGCAAGCGTCT	0.587												
POGZ	23126	broad.mit.edu	37	1	151378412	151378412	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:151378412C>T	uc001eyd.1	-	19	3405	c.3099G>A	c.(3097-3099)GAG>GAA	p.E1033E	POGZ_uc001eye.1_Silent_p.E980E|POGZ_uc010pdb.1_Silent_p.E1024E|POGZ_uc001eyf.1_Silent_p.E989E|POGZ_uc010pdc.1_Silent_p.E971E|POGZ_uc009wmv.1_Silent_p.E938E|POGZ_uc010pdd.1_Silent_p.E524E	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1033	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTAGCACCCACTCAGCCAGTT	0.522												
CGN	57530	broad.mit.edu	37	1	151509232	151509232	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:151509232G>A	uc009wmw.2	+	20	3477	c.3333G>A	c.(3331-3333)AAG>AAA	p.K1111K	CGN_uc010pde.1_Silent_p.K105K	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	1105	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGCTTTGAAGCGTCAGGTGG	0.547												
FLG	2312	broad.mit.edu	37	1	152280936	152280936	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:152280936C>T	uc001ezu.1	-	3	6462	c.6426G>A	c.(6424-6426)CCG>CCA	p.P2142P		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2142	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)			TGCTTGGCCCCGGGTGTCCAC	0.572									Ichthyosis			
SMCP	4184	broad.mit.edu	37	1	152857143	152857143	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:152857143C>T	uc001fat.2	+	2	390	c.245C>T	c.(244-246)CCC>CTC	p.P82L		NM_030663	NP_109588	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich	82					penetration of zona pellucida|sperm motility	mitochondrial membrane					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAGTCTCACCCCTTAACATG	0.557												
ADAM15	8751	broad.mit.edu	37	1	155030118	155030118	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:155030118C>T	uc001fgr.1	+	13	1430	c.1329C>T	c.(1327-1329)TGC>TGT	p.C443C	ADAM15_uc001fgq.1_Silent_p.C128C|ADAM15_uc010pet.1_Silent_p.C427C|ADAM15_uc010peu.1_Silent_p.C460C|ADAM15_uc001fgt.1_Silent_p.C443C|ADAM15_uc010pev.1_Silent_p.C453C|ADAM15_uc001fgs.1_Silent_p.C443C|ADAM15_uc001fgu.1_Silent_p.C443C|ADAM15_uc001fgw.1_Silent_p.C443C|ADAM15_uc001fgv.1_Silent_p.C443C|ADAM15_uc001fgx.1_Silent_p.C443C|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	443	Disintegrin.|Extracellular (Potential).				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CACAGGACTGCGTCGATCCCT	0.612												
FDPS	2224	broad.mit.edu	37	1	155287769	155287769	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:155287769A>C	uc001fkc.2	+	5	737	c.518A>C	c.(517-519)GAT>GCT	p.D173A	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.D107A|FDPS_uc001fke.2_Missense_Mutation_p.D173A|FDPS_uc001fkf.2_Missense_Mutation_p.D107A|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	173		Magnesium 1.|Magnesium 2.			cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GACATCATGGATTCATCCCTT	0.512												
ARHGEF2	9181	broad.mit.edu	37	1	155931599	155931599	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:155931599G>A	uc001fmt.2	-	11	1439	c.1321C>T	c.(1321-1323)CGT>TGT	p.R441C	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R413C|ARHGEF2_uc001fms.2_Missense_Mutation_p.R440C|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R485C|ARHGEF2_uc010pgt.1_Missense_Mutation_p.R414C|ARHGEF2_uc010pgu.1_Missense_Mutation_p.R486C	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	441					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCTGCAGACGGGCCCCTTTC	0.602												
MEX3A	92312	broad.mit.edu	37	1	156047381	156047381	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:156047381G>A	uc001fnd.3	-	2	547	c.547C>T	c.(547-549)CGG>TGG	p.R183W		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	183	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					ACGTCCTCCCGTCGCCCTGTC	0.602												
GPATCH4	54865	broad.mit.edu	37	1	156568099	156568099	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:156568099G>A	uc001fpm.2	-	4	220	c.181C>T	c.(181-183)CCT>TCT	p.P61S	GPATCH4_uc001fpl.2_Missense_Mutation_p.P56S	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	56	G-patch.					intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTTGGCAGGGTCATGTCCT	0.532												
INSRR	3645	broad.mit.edu	37	1	156819054	156819054	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:156819054G>A	uc010pht.1	-	6	1682	c.1428C>T	c.(1426-1428)AAC>AAT	p.N476N	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	476					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCGGTCTCCGTTGGTGCGGG	0.657												
OR10K2	391107	broad.mit.edu	37	1	158389904	158389904	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:158389904G>T	uc010pii.1	-	1	753	c.753C>A	c.(751-753)CAC>CAA	p.H251Q		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					CACAGCCATAGTGGACAGTGA	0.433												
OR6Y1	391112	broad.mit.edu	37	1	158517023	158517023	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:158517023G>T	uc010pil.1	-	1	873	c.873C>A	c.(871-873)AAC>AAA	p.N291K		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	291	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AAATGATGGGGTTGAGGAGTG	0.473												
SPTA1	6708	broad.mit.edu	37	1	158647587	158647587	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:158647587C>T	uc001fst.1	-	7	1049	c.850G>A	c.(850-852)GAA>AAA	p.E284K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	284	Spectrin 4.				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)					AGTACAGGTTCCTTCTCCTTG	0.478												
IFI16	3428	broad.mit.edu	37	1	159021772	159021772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:159021772C>T	uc001ftg.2	+	9	2091	c.1801C>T	c.(1801-1803)CGA>TGA	p.R601*	IFI16_uc010pis.1_Nonsense_Mutation_p.R601*|IFI16_uc001fth.2_Nonsense_Mutation_p.R144*|IFI16_uc010pit.1_Nonsense_Mutation_p.R200*	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	657	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					GAATGCTGACCGAAACATGGA	0.428												
KCNJ10	3766	broad.mit.edu	37	1	160011276	160011276	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:160011276G>A	uc001fuw.1	-	2	1197	c.1047C>T	c.(1045-1047)TAC>TAT	p.Y349Y		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	349	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGGTCTCCGTAGCGTACAG	0.512												
PPOX	5498	broad.mit.edu	37	1	161136994	161136994	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:161136994G>A	uc001fyj.2	+	3	482	c.192G>A	c.(190-192)GCG>GCA	p.A64A	PPOX_uc001fyn.2_Silent_p.A64A|PPOX_uc001fyg.2_Silent_p.A64A|PPOX_uc001fyl.2_5'UTR|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_5'UTR|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Silent_p.A64A|PPOX_uc001fyi.2_5'UTR	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	64					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTAGGCCAGCGGGAGCCCTAG	0.592									Porphyria_Variegata			
B4GALT3	8703	broad.mit.edu	37	1	161141683	161141683	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:161141683T>C	uc001fyq.1	-	8	1367	c.1105A>G	c.(1105-1107)ATG>GTG	p.M369V	PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Missense_Mutation_p.M149V|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.M369V|B4GALT3_uc001fys.1_Missense_Mutation_p.M369V	NM_003779	NP_003770	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	369	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity				0	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CGTTGCAGCATCTCTTGACGG	0.602												
UAP1	6675	broad.mit.edu	37	1	162549390	162549390	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:162549390C>T	uc001gce.3	+	4	987	c.658C>T	c.(658-660)CCA>TCA	p.P220S		NM_003115	NP_003106	Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	220					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			ovary(2)|skin(2)|kidney(1)	5	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTCTATGGCTCCAGGTTTGTA	0.308												
RGS5	8490	broad.mit.edu	37	1	163131737	163131737	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:163131737C>T	uc001gcn.2	-	3	432	c.185G>A	c.(184-186)CGT>CAT	p.R62H	RGS5_uc009wvb.2_Intron	NM_003617	NP_003608	O15539	RGS5_HUMAN	regulator of G-protein signalling 5	62					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity				0			LUSC - Lung squamous cell carcinoma(543;0.187)			CAGGGAATCACGCCACTGCAG	0.418												
LRRC52	440699	broad.mit.edu	37	1	165513722	165513722	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:165513722C>T	uc001gde.2	+	1	245	c.189C>T	c.(187-189)AAC>AAT	p.N63N	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	63	LRR 1.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGAACGAGAACAGAATCACTA	0.483												
TMCO1	54499	broad.mit.edu	37	1	165712524	165712524	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:165712524C>T	uc001gdj.3	-	6	497	c.348G>A	c.(346-348)AAG>AAA	p.K116K	TMCO1_uc001gdl.3_Silent_p.K32K|TMCO1_uc001gdm.3_Silent_p.K32K|TMCO1_uc001gdk.3_Silent_p.K104K|TMCO1_uc001gdn.3_RNA	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	116						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TAAAAGGAAGCTTTGCCACCA	0.373												
BAT2L2	23215	broad.mit.edu	37	1	171504671	171504671	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:171504671G>A	uc010pmg.1	+	13	2238	c.1972G>A	c.(1972-1974)GCT>ACT	p.A658T		NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	658							protein C-terminus binding				0						ACCTCGGCCGGCTGTATTATC	0.443												
RASAL2	9462	broad.mit.edu	37	1	178411822	178411822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:178411822C>T	uc001glr.2	+	6	621	c.496C>T	c.(496-498)CGA>TGA	p.R166*	RASAL2_uc001glq.2_Nonsense_Mutation_p.R314*	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	166					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CAATTGCAGGCGAGCTGAAAA	0.383												
ZNF648	127665	broad.mit.edu	37	1	182026325	182026325	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:182026325C>G	uc001goz.2	-	2	1029	c.821G>C	c.(820-822)GGC>GCC	p.G274A		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTGGCGGCGCCGCCGCGCGT	0.741												
LHX9	56956	broad.mit.edu	37	1	197898270	197898270	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:197898270G>A	uc001guk.1	+	5	1512	c.1075G>A	c.(1075-1077)GCG>ACG	p.A359T	LHX9_uc001gui.1_Missense_Mutation_p.A350T|LHX9_uc001guj.1_Intron	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	359					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						ACCCGGCACTGCGACCACTTT	0.577												
NAV1	89796	broad.mit.edu	37	1	201687819	201687819	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:201687819G>A	uc001gwu.2	+	3	1509	c.1162G>A	c.(1162-1164)GGC>AGC	p.G388S		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	388					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CCTCAAGTCCGGCTACATGAG	0.607												
DSTYK	25778	broad.mit.edu	37	1	205128707	205128707	+	Missense_Mutation	SNP	G	G	A	rs150778354	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:205128707G>A	uc001hbw.2	-	9	2270	c.2206C>T	c.(2206-2208)CGG>TGG	p.R736W	DSTYK_uc001hbx.2_Missense_Mutation_p.R736W	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	736	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						CGGTGTAGCCGCTCCATAATG	0.542												
CENPF	1063	broad.mit.edu	37	1	214794185	214794185	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:214794185C>A	uc001hkm.2	+	6	935	c.761C>A	c.(760-762)CCA>CAA	p.P254Q		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	254	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGGTGACTCCAAGTCGATCA	0.388												
USH2A	7399	broad.mit.edu	37	1	215824087	215824087	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:215824087G>A	uc001hku.1	-	65	14577	c.14190C>T	c.(14188-14190)ACC>ACT	p.T4730T		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4730	Fibronectin type-III 32.|Extracellular (Potential).				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)		GGGCTGGCCCGGTTCTGCACC	0.547										HNSCC(13;0.011)		
MARK1	4139	broad.mit.edu	37	1	220826691	220826691	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:220826691G>A	uc001hmn.3	+	16	2582	c.1985G>A	c.(1984-1986)CGC>CAC	p.R662H	MARK1_uc009xdw.2_Missense_Mutation_p.R663H|MARK1_uc010pun.1_Missense_Mutation_p.R662H|MARK1_uc001hmm.3_Missense_Mutation_p.R640H	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	662					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)		AAATTTGTTCGCAGGTCAGTA	0.368												
HLX	3142	broad.mit.edu	37	1	221057717	221057717	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:221057717G>A	uc001hmv.3	+	4	1595	c.1138G>A	c.(1138-1140)GAC>AAC	p.D380N		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	380	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		CGAGAGCAGCGACTCCGAGTC	0.652												
ITPKB	3707	broad.mit.edu	37	1	226829622	226829622	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:226829622C>A	uc010pvo.1	-	5	2791	c.2451G>T	c.(2449-2451)AAG>AAT	p.K817N		NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	817		ATP (By similarity).					ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				CCGGCCTCACCTTGATTCCCT	0.642												
ARF1	375	broad.mit.edu	37	1	228285343	228285343	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:228285343G>A	uc001hrr.2	+	4	539	c.311G>A	c.(310-312)CGT>CAT	p.R104H	ARF1_uc001hrs.2_Missense_Mutation_p.R104H|ARF1_uc001hrt.2_Intron|ARF1_uc009xev.2_Intron|ARF1_uc001hru.2_Missense_Mutation_p.R104H|ARF1_uc001hrv.2_Missense_Mutation_p.R104H|ARF1_uc001hrw.2_Missense_Mutation_p.R104H	NM_001024226	NP_001019397	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	104					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity				0		Prostate(94;0.0405)				AACGAGGCCCGTGAGGAGCTC	0.637												
OBSCN	84033	broad.mit.edu	37	1	228400308	228400308	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:228400308G>A	uc009xez.1	+	2	868	c.824G>A	c.(823-825)GGC>GAC	p.G275D	OBSCN_uc001hsn.2_Missense_Mutation_p.G275D|uc001hsm.1_RNA	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	275	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AAGAAGGACGGCCAGCTGGTG	0.672												
OBSCN	84033	broad.mit.edu	37	1	228412242	228412242	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:228412242C>T	uc009xez.1	+	9	2780	c.2736C>T	c.(2734-2736)TGC>TGT	p.C912C	OBSCN_uc001hsn.2_Silent_p.C912C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	912	Ig-like 9.				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)				CACTGAGCTGCGAGGTGGCCC	0.627												
OBSCN	84033	broad.mit.edu	37	1	228433175	228433175	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:228433175G>T	uc009xez.1	+	12	3587	c.3543G>T	c.(3541-3543)GGG>GGT	p.G1181G	OBSCN_uc001hsn.2_Silent_p.G1181G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1181	Ig-like 12.				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)				CTGAGGCGGGGACCACTGCCA	0.587												
LYST	1130	broad.mit.edu	37	1	235916502	235916502	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:235916502T>C	uc001hxj.2	-	26	7477	c.7302A>G	c.(7300-7302)ATA>ATG	p.I2434M	LYST_uc009xga.1_Missense_Mutation_p.I16M	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2434					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)			GAGAGGTCTCTATTAGTCCCA	0.343									Chediak-Higashi_syndrome			
LYST	1130	broad.mit.edu	37	1	235920596	235920596	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:235920596T>C	uc001hxj.2	-	24	7219	c.7044A>G	c.(7042-7044)CAA>CAG	p.Q2348Q		NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2348					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)			TAACACCTTGTTGTATAGCTG	0.299									Chediak-Higashi_syndrome			
EXO1	9156	broad.mit.edu	37	1	242042157	242042157	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:242042157G>A	uc001hzh.2	+	13	2161	c.1621G>A	c.(1621-1623)GAG>AAG	p.E541K	EXO1_uc001hzi.2_Missense_Mutation_p.E541K|EXO1_uc001hzj.2_Missense_Mutation_p.E541K|EXO1_uc009xgq.2_Missense_Mutation_p.E540K	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	541					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GCATGAATCAGAGTATGGAGA	0.413								Direct_reversal_of_damage|Editing_and_processing_nucleases				
ZNF238	10472	broad.mit.edu	37	1	244218334	244218334	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:244218334A>G	uc001iae.2	+	1	1753	c.1231A>G	c.(1231-1233)ACG>GCG	p.T411A	ZNF238_uc001iad.3_Missense_Mutation_p.T420A|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	411	C2H2-type 2.|Interaction with DNMT3A.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CAACGTGCCCACGTGCTCGCT	0.637												
KIF26B	55083	broad.mit.edu	37	1	245849800	245849800	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:245849800C>T	uc001ibf.1	+	12	3955	c.3515C>T	c.(3514-3516)ACG>ATG	p.T1172M	KIF26B_uc001ibg.1_Missense_Mutation_p.T790M|KIF26B_uc001ibh.1_Missense_Mutation_p.T414M	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1172					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)			CTGAGCACCACGATGGTGACG	0.607												
SCCPDH	51097	broad.mit.edu	37	1	246921560	246921560	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:246921560A>G	uc001ibr.2	+	6	944	c.597A>G	c.(595-597)TCA>TCG	p.S199S		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	199						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CCTGGAAGTCAGCAATTTATG	0.348												
PFKP	5214	broad.mit.edu	37	10	3151612	3151612	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:3151612C>T	uc001igp.2	+	10	1065	c.1029C>T	c.(1027-1029)TGC>TGT	p.C343C	PFKP_uc001igq.2_Silent_p.C335C|PFKP_uc009xhr.2_Silent_p.C305C|PFKP_uc009xhs.1_Silent_p.C127C|PFKP_uc009xht.2_Silent_p.C81C	NM_002627	NP_002618	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	343					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCCCAGCTTGCGTCGTGTCAC	0.672												
AKR1C4	1109	broad.mit.edu	37	10	5255081	5255081	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:5255081G>A	uc001ihw.2	+	7	838	c.805G>A	c.(805-807)GCC>ACC	p.A269T		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	269	NADP.				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			ovary(1)	1					NADH(DB00157)	TGTGGTCCTGGCCAAGAGCTA	0.552												
TUBAL3	79861	broad.mit.edu	37	10	5436175	5436175	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:5436175C>T	uc001ihy.2	-	4	686	c.646G>A	c.(646-648)GTC>ATC	p.V216I	TUBAL3_uc001ihz.2_Missense_Mutation_p.V176I	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	216					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1						ATATCATAGACGGCCTCGTTG	0.517												
GATA3	2625	broad.mit.edu	37	10	8106092	8106092	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:8106092G>A	uc001ika.2	+	4	1469	c.912G>A	c.(910-912)AAG>AAA	p.K304K	GATA3_uc001ijz.2_Silent_p.K305K	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	304					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						TTAAGCCCAAGCGAAGGCTGG	0.552			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)					
DHTKD1	55526	broad.mit.edu	37	10	12148275	12148275	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:12148275G>A	uc001ild.3	+	11	2026	c.1927G>A	c.(1927-1929)GTC>ATC	p.V643I		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	643					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.V643I(1)		ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AGAAGAGGCCGTCCTGGGATT	0.537												
MCM10	55388	broad.mit.edu	37	10	13213034	13213034	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:13213034C>T	uc001ima.2	+	3	221	c.120C>T	c.(118-120)GAC>GAT	p.D40D	MCM10_uc001imb.2_Silent_p.D40D|MCM10_uc001imc.2_Silent_p.D40D	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	40					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						GCGAGCCCGACGCATTTGATG	0.468												
MCM10	55388	broad.mit.edu	37	10	13222486	13222486	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:13222486G>A	uc001ima.2	+	7	913	c.812G>A	c.(811-813)GGC>GAC	p.G271D	MCM10_uc001imb.2_Missense_Mutation_p.G270D|MCM10_uc001imc.2_Missense_Mutation_p.G270D	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	271					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						AAAATGACCGGCCGAAAACTG	0.418												
FRMD4A	55691	broad.mit.edu	37	10	13824973	13824973	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:13824973A>G	uc001ims.2	-	6	685	c.333T>C	c.(331-333)GAT>GAC	p.D111D	FRMD4A_uc009xjf.1_Silent_p.D111D|FRMD4A_uc001imt.1_Silent_p.D144D|FRMD4A_uc001imu.1_Silent_p.D127D	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	111	FERM.					cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						TGGTAGCATTATCCTTCAGGT	0.418												
ST8SIA6	338596	broad.mit.edu	37	10	17495589	17495589	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:17495589G>T	uc001ipd.2	-	2	169	c.169C>A	c.(169-171)CCG>ACG	p.P57T	ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	57	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						GCGGTCGCCGGGCTCCGGAGC	0.711												
NEBL	10529	broad.mit.edu	37	10	21157652	21157652	+	Missense_Mutation	SNP	C	C	T	rs142138590		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:21157652C>T	uc001iqi.2	-	7	1022	c.625G>A	c.(625-627)GCT>ACT	p.A209T	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	209	Nebulin 6.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						CCAATTACAGCGGGCTCTTTA	0.343												
ARMC4	55130	broad.mit.edu	37	10	28283978	28283978	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:28283978T>A	uc009xky.2	-	2	192	c.94A>T	c.(94-96)AAA>TAA	p.K32*	ARMC4_uc001itz.2_Nonsense_Mutation_p.K32*	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	32							binding			ovary(4)|skin(2)	6						ATAATTTCTTTCAATATCGCT	0.438												
SVIL	6840	broad.mit.edu	37	10	29813608	29813608	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:29813608C>A	uc001iut.1	-	14	3132	c.2379G>T	c.(2377-2379)AAG>AAT	p.K793N	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.K367N	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	793					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)				TTGTCTGGTCCTTGGCTAAGG	0.443												
SVIL	6840	broad.mit.edu	37	10	29821018	29821018	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:29821018C>T	uc001iut.1	-	9	2675	c.1922G>A	c.(1921-1923)CGC>CAC	p.R641H	SVIL_uc001iuu.1_Intron	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	641					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)				AGAAAAATAGCGTCTTGGTTT	0.502												
HNRNPF	3185	broad.mit.edu	37	10	43882892	43882892	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:43882892G>A	uc009xmh.1	-	3	928	c.441C>T	c.(439-441)CCC>CCT	p.P147P	HNRNPF_uc001jar.2_Silent_p.P147P|HNRNPF_uc001jas.2_Silent_p.P147P|HNRNPF_uc001jat.2_Silent_p.P147P|HNRNPF_uc001jav.2_Silent_p.P147P|HNRNPF_uc001jau.2_Silent_p.P147P|uc010qfa.1_3'UTR	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	147	RRM 2.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						TCTTGCCTTCGGGGTCCACAG	0.512												
RBP3	5949	broad.mit.edu	37	10	48389461	48389461	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:48389461G>T	uc001jez.2	-	1	1531	c.1417C>A	c.(1417-1419)CAC>AAC	p.H473N		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	473	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	ATGATGAGGTGCTCCGTGTCC	0.652												
ERCC6	2074	broad.mit.edu	37	10	50740814	50740814	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:50740814G>A	uc001jhs.3	-	2	351	c.197C>T	c.(196-198)CCG>CTG	p.P66L	PGBD3_uc009xoe.2_Missense_Mutation_p.P66L|PGBD3_uc001jhu.2_Missense_Mutation_p.P66L	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	66					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						CCCTCTCCTCGGAGCTGCTGA	0.622								Direct_reversal_of_damage|NER				
PCDH15	65217	broad.mit.edu	37	10	55581693	55581693	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:55581693T>G	uc001jju.1	-	33	6188	c.5793A>C	c.(5791-5793)GAA>GAC	p.E1931D	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.E785D|PCDH15_uc010qhv.1_Missense_Mutation_p.E1928D|PCDH15_uc010qhw.1_Missense_Mutation_p.E1891D|PCDH15_uc010qhx.1_Missense_Mutation_p.E1862D|PCDH15_uc010qhy.1_Missense_Mutation_p.E1938D|PCDH15_uc010qhz.1_Missense_Mutation_p.E1933D|PCDH15_uc010qia.1_Missense_Mutation_p.E1911D|PCDH15_uc010qib.1_Missense_Mutation_p.E1908D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1931	Cytoplasmic (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)				CCTTGTTTTGTTCAGATGTGA	0.348										HNSCC(58;0.16)		
CCDC6	8030	broad.mit.edu	37	10	61665922	61665922	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:61665922C>T	uc001jks.3	-	1	897	c.261G>A	c.(259-261)CTG>CTA	p.L87L		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	87	Potential.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton			ovary(3)|breast(1)	4				Kidney(211;0.0597)		TCTCCTCCTGCAGTGCCTTGC	0.667												
SLC25A16	8034	broad.mit.edu	37	10	70263442	70263442	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:70263442G>A	uc001joi.2	-	4	820	c.368C>T	c.(367-369)ACG>ATG	p.T123M	SLC25A16_uc010qix.1_Translation_Start_Site|SLC25A16_uc010qiy.1_Missense_Mutation_p.T25M|SLC25A16_uc001joj.2_Missense_Mutation_p.T25M	NM_152707	NP_689920	P16260	GDC_HUMAN	solute carrier family 25, member 16	123					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity				0						TCCCAGCTTCGTAGTAATTAA	0.308												
KIAA1279	26128	broad.mit.edu	37	10	70748821	70748821	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:70748821C>T	uc001joy.2	+	1	329	c.233C>T	c.(232-234)GCT>GTT	p.A78V		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	78					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1						GGGCTGCCGGCTGAGGTGGTG	0.721												
NEUROG3	50674	broad.mit.edu	37	10	71332693	71332693	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:71332693G>T	uc001jpp.2	-	2	265	c.107C>A	c.(106-108)CCG>CAG	p.P36Q		NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	36					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity				0						GGGGCTGGGCGGGGCGGACGT	0.726												
ADAMTS14	140766	broad.mit.edu	37	10	72511376	72511376	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:72511376C>T	uc001jrh.2	+	17	2570	c.2570C>T	c.(2569-2571)GCC>GTC	p.A857V	ADAMTS14_uc001jrg.2_Missense_Mutation_p.A860V	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	857	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						AAGAGCTGGGCCCCCTGCAGC	0.617												
PCBD1	5092	broad.mit.edu	37	10	72645663	72645663	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:72645663G>A	uc001jrn.1	-	2	278	c.27C>T	c.(25-27)AGC>AGT	p.S9S		NM_000281	NP_000272	P61457	PHS_HUMAN	pterin-4 alpha-carbinolamine	9					L-phenylalanine catabolic process|regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process|transcription, DNA-dependent	cytosol|nucleus	4-alpha-hydroxytetrahydrobiopterin dehydratase activity|identical protein binding|transcription coactivator activity				0						TCTCCTCAGCGCTCAGCCTGT	0.527												
SLC29A3	55315	broad.mit.edu	37	10	73082600	73082600	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:73082600C>T	uc001jrr.3	+	2	146	c.89C>T	c.(88-90)GCA>GTA	p.A30V	SLC29A3_uc001jrs.3_Missense_Mutation_p.A30V|SLC29A3_uc010qjq.1_5'UTR|SLC29A3_uc001jrt.3_5'UTR|SLC29A3_uc001jru.3_Intron	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	30	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						GACCAGGAGGCACTGCTTGAG	0.587												
ZNF503	84858	broad.mit.edu	37	10	77158710	77158710	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:77158710C>T	uc001jxg.2	-	2	2074	c.1738G>A	c.(1738-1740)GCA>ACA	p.A580T	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CTGCCCGGTGCGCCCGAGGTG	0.716												
ZNF503	84858	broad.mit.edu	37	10	77159254	77159254	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:77159254C>T	uc001jxg.2	-	2	1530	c.1194G>A	c.(1192-1194)GCG>GCA	p.A398A	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	398	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GAGACCCGGCCGCGGCCGCCG	0.726												
KCNMA1	3778	broad.mit.edu	37	10	78651415	78651415	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:78651415C>T	uc001jxn.2	-	26	3387	c.3210G>A	c.(3208-3210)CCG>CCA	p.P1070P	KCNMA1_uc001jxj.2_Silent_p.P1016P|KCNMA1_uc001jxk.1_Silent_p.P688P|KCNMA1_uc009xrt.1_Silent_p.P861P|KCNMA1_uc001jxl.1_Silent_p.P695P|KCNMA1_uc001jxo.2_Silent_p.P1053P|KCNMA1_uc001jxm.2_Silent_p.P1012P|KCNMA1_uc001jxq.2_Silent_p.P1042P|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1070	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCTCCAGCTCCGGCGTGGCTC	0.577												
MMRN2	79812	broad.mit.edu	37	10	88702910	88702910	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:88702910G>A	uc001kea.2	-	6	1758	c.1631C>T	c.(1630-1632)TCG>TTG	p.S544L	MMRN2_uc010qmn.1_Missense_Mutation_p.S187L|MMRN2_uc009xtb.2_Missense_Mutation_p.S501L	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	544						extracellular space				large_intestine(1)	1						CACGGCCAGCGACACGGCGTC	0.751												
CYP26A1	1592	broad.mit.edu	37	10	94834065	94834065	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:94834065C>T	uc001kil.2	+	2	235	c.190C>T	c.(190-192)CGG>TGG	p.R64W	CYP26A1_uc001kik.1_5'UTR|CYP26A1_uc001kim.1_5'UTR	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	64					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				CCTCCCACAGCGGAGGAAGTT	0.652												
CYP26A1	1592	broad.mit.edu	37	10	94834777	94834777	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:94834777G>A	uc001kil.2	+	3	701	c.656G>A	c.(655-657)CGC>CAC	p.R219H	CYP26A1_uc001kik.1_Missense_Mutation_p.R150H|CYP26A1_uc001kim.1_Missense_Mutation_p.R117H	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	219					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				GAAATGACCCGCAATCTCTTC	0.662												
PLCE1	51196	broad.mit.edu	37	10	96005982	96005982	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:96005982C>T	uc001kjk.2	+	8	3334	c.2700C>T	c.(2698-2700)TCC>TCT	p.S900S	PLCE1_uc010qnx.1_Silent_p.S900S|PLCE1_uc001kjm.2_Silent_p.S592S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	900					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				CAACTGCCTCCCCAGCCAGCA	0.522												
PKD2L1	9033	broad.mit.edu	37	10	102054765	102054765	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:102054765T>C	uc001kqx.1	-	8	1855	c.1472A>G	c.(1471-1473)TAT>TGT	p.Y491C	PKD2L1_uc009xwm.1_Missense_Mutation_p.Y444C	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	491	Helical; (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GAGTTGGGCATAGGCGAAGAA	0.542												
SEC31B	25956	broad.mit.edu	37	10	102267696	102267696	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:102267696G>T	uc001krc.1	-	6	710	c.608C>A	c.(607-609)CCT>CAT	p.P203H	SEC31B_uc010qpo.1_Missense_Mutation_p.P202H|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Missense_Mutation_p.P206H|SEC31B_uc009xwn.1_Missense_Mutation_p.P203H|SEC31B_uc009xwo.1_Missense_Mutation_p.P203H|SEC31B_uc010qpq.1_Missense_Mutation_p.P46H|SEC31B_uc010qpr.1_RNA	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	203	WD 3.				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)		TTTGATGATAGGTTCATTCTT	0.527												
PDCD11	22984	broad.mit.edu	37	10	105200581	105200581	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:105200581G>A	uc001kwy.1	+	30	4618	c.4531G>A	c.(4531-4533)GCA>ACA	p.A1511T		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1511					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)		AAAAGAGGAGGCAGAAGAGAC	0.597												
PDCD4	27250	broad.mit.edu	37	10	112647591	112647591	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:112647591A>G	uc001kzh.2	+	6	967	c.724A>G	c.(724-726)AAA>GAA	p.K242E	PDCD4_uc001kzg.2_Missense_Mutation_p.K231E|PDCD4_uc010qre.1_Missense_Mutation_p.K228E	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	242	Nuclear localization signal (Potential).|MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ATCATTTGATAAATTGTTGAA	0.393												
GPAM	57678	broad.mit.edu	37	10	113917103	113917103	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:113917103C>T	uc009xxy.1	-	19	2223	c.2025G>A	c.(2023-2025)CAG>CAA	p.Q675Q	GPAM_uc001kzp.2_Silent_p.Q675Q|GPAM_uc001kzq.1_Silent_p.Q675Q	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	mitochondrial glycerol 3-phosphate	675	Mitochondrial intermembrane (Potential).|Mitochondrial intermembrane (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)		TCTTGTCCCACTGCTGCTCAG	0.463												
CPXM2	119587	broad.mit.edu	37	10	125528203	125528203	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:125528203C>T	uc001lhk.1	-	9	1463	c.1138G>A	c.(1138-1140)GGC>AGC	p.G380S	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	380					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ACCTCATTGCCGTGGGCCCCC	0.592												
LHPP	64077	broad.mit.edu	37	10	126186676	126186676	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:126186676G>A	uc001lhs.1	+	5	623	c.603G>A	c.(601-603)GCG>GCA	p.A201A	LHPP_uc001lht.1_Silent_p.A201A|LHPP_uc009yai.1_Intron	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic	201					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		CCCTGCAAGCGATAGGAGTGG	0.572												
PTPRE	5791	broad.mit.edu	37	10	129881123	129881123	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:129881123G>A	uc001lkb.2	+	21	2335	c.2056G>A	c.(2056-2058)GTA>ATA	p.V686I	PTPRE_uc009yat.2_Missense_Mutation_p.V697I|PTPRE_uc009yau.2_Missense_Mutation_p.V686I|PTPRE_uc001lkd.2_Missense_Mutation_p.V628I|PTPRE_uc010quq.1_Nonsense_Mutation_p.W541*	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	686	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CTACAAAGTGGTACAAGATTT	0.254												
MUC6	4588	broad.mit.edu	37	11	1017296	1017296	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:1017296T>C	uc001lsw.2	-	31	5556	c.5505A>G	c.(5503-5505)ACA>ACG	p.T1835T		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1835	Thr-rich.|2.|Approximate repeats.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGTGGGAAGTGTGGTGTGAG	0.547												
MUC2	4583	broad.mit.edu	37	11	1086062	1086062	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:1086062G>A	uc001lsx.1	+	22	2929	c.2902G>A	c.(2902-2904)GTC>ATC	p.V968I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	968	VWFD 3.					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)	GGGCATCATCGTCATCTGGGA	0.657												
CTSD	1509	broad.mit.edu	37	11	1778684	1778684	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:1778684C>T	uc001luc.1	-	5	707	c.574G>A	c.(574-576)GCA>ACA	p.A192T	CTSD_uc009yda.1_RNA	NM_001909	NP_001900	P07339	CATD_HUMAN	cathepsin D preproprotein	192					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity				0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AACTTGGCTGCGATGAAGGTG	0.622											OREG0003774	type=REGULATORY REGION|Gene=CTSD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
IGF2	3481	broad.mit.edu	37	11	2156625	2156625	+	Silent	SNP	G	G	A	rs140032633		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:2156625G>A	uc009yde.2	-	2	232	c.129C>T	c.(127-129)TTC>TTT	p.F43F	IGF2_uc001lvf.2_5'Flank|IGF2_uc001lvg.2_Silent_p.F43F|IGF2_uc009ydf.2_Silent_p.F99F|IGF2_uc001lvh.2_Silent_p.F43F|INS-IGF2_uc001lvi.2_RNA|MIR483_hsa-mir-483|MI0002467_5'Flank|INS-IGF2_uc001lvj.1_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	43	B.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCCCACAGACGAACTGGAGGG	0.627												
OR52K2	119774	broad.mit.edu	37	11	4471014	4471014	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:4471014G>A	uc001lyz.1	+	1	445	c.445G>A	c.(445-447)GCT>ACT	p.A149T		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	149	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATTGGCATGGCTGCTGTGGC	0.572												
OR51B5	282763	broad.mit.edu	37	11	5364477	5364477	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:5364477G>A	uc001map.1	-	1	278	c.278C>T	c.(277-279)GCG>GTG	p.A93V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.A93V	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGCAGGCCGCACTTCCAAT	0.557												
OR52B6	340980	broad.mit.edu	37	11	5602471	5602471	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:5602471T>G	uc010qzi.1	+	1	365	c.365T>G	c.(364-366)TTC>TGC	p.F122C	HBG2_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B,	122	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTCAGATGTTCTTCATTCAC	0.522												
CNGA4	1262	broad.mit.edu	37	11	6265356	6265356	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:6265356C>G	uc001mco.2	+	6	1552	c.1445C>G	c.(1444-1446)GCT>GGT	p.A482G	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	482	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACGTGAATGCTGAGGCAGCT	0.567												
OR10A4	283297	broad.mit.edu	37	11	6898745	6898745	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:6898745C>T	uc010rat.1	+	1	867	c.867C>T	c.(865-867)ATC>ATT	p.I289I		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAACCCCATCATCTACAGCT	0.502												
OR5P3	120066	broad.mit.edu	37	11	7847470	7847470	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:7847470A>G	uc010rbg.1	-	1	50	c.50T>C	c.(49-51)TTA>TCA	p.L17S		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	17	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCCTCAGATAACCCCAAAAG	0.343												
ST5	6764	broad.mit.edu	37	11	8752324	8752324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:8752324C>T	uc001mgt.2	-	3	699	c.513G>A	c.(511-513)TGG>TGA	p.W171*	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Nonsense_Mutation_p.W171*|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Nonsense_Mutation_p.W171*	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	171					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCGACCTTCCCATGCTGATA	0.701												
ST5	6764	broad.mit.edu	37	11	8752514	8752514	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:8752514G>A	uc001mgt.2	-	3	509	c.323C>T	c.(322-324)GCG>GTG	p.A108V	ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Missense_Mutation_p.A108V|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.A108V	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	108					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCTCTTGCACGCCGAAGGGCT	0.607												
ASCL3	56676	broad.mit.edu	37	11	8959358	8959358	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:8959358G>T	uc001mhd.1	-	2	411	c.351C>A	c.(349-351)CGC>CGA	p.R117R		NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN	ASCL3	116	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding				0				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GCAGATGATGGCGGAGCTGGG	0.542												
SPON1	10418	broad.mit.edu	37	11	14156978	14156978	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:14156978A>G	uc001mle.2	+	7	1227	c.689A>G	c.(688-690)CAC>CGC	p.H230R		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	230	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		CGGGCCAACCACTGGTCTGCG	0.512												
RRAS2	22800	broad.mit.edu	37	11	14316397	14316397	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:14316397C>T	uc001mlf.3	-	3	521	c.208G>A	c.(208-210)GCA>ACA	p.A70T	RRAS2_uc009ygq.2_5'UTR|RRAS2_uc010rco.1_Missense_Mutation_p.A76T	NM_012250	NP_036382	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	70	GTP (By similarity).					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)	1				Epithelial(150;0.203)		TCTTGTCCTGCTGTATCCAAA	0.403												
PDE3B	5140	broad.mit.edu	37	11	14665715	14665715	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:14665715G>A	uc001mln.2	+	1	447	c.94G>A	c.(94-96)GTG>ATG	p.V32M	PDE3B_uc001mlm.2_Missense_Mutation_p.V32M|PDE3B_uc010rcr.1_Missense_Mutation_p.V32M|PSMA1_uc001mll.2_5'Flank	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	32					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						GAACGGCTACGTGAAGAGCTG	0.706												
PDE3B	5140	broad.mit.edu	37	11	14880640	14880640	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:14880640G>A	uc001mln.2	+	13	2925	c.2572G>A	c.(2572-2574)GCT>ACT	p.A858T	PDE3B_uc010rcr.1_Missense_Mutation_p.A807T	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	858	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TGCTGCGTCAGCTTGGAATCT	0.363												
PIK3C2A	5286	broad.mit.edu	37	11	17115867	17115867	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:17115867G>A	uc001mmq.3	-	27	4458	c.4392C>T	c.(4390-4392)GAC>GAT	p.D1464D	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Silent_p.D1084D|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1464	PX.			D -> V (in Ref. 1; CAA73797).	cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	CCTGAAATTCGTCAAATGTTC	0.338												
SPTY2D1	144108	broad.mit.edu	37	11	18633956	18633956	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:18633956G>A	uc001moy.2	-	4	2007	c.1791C>T	c.(1789-1791)TAC>TAT	p.Y597Y	SPTY2D1_uc010rdi.1_Silent_p.Y597Y	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	597										breast(1)	1						TTTCAGAGTCGTATTCATCAT	0.378												
E2F8	79733	broad.mit.edu	37	11	19247354	19247354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:19247354C>A	uc001mpm.2	-	11	2473	c.1951G>T	c.(1951-1953)GAG>TAG	p.E651*	E2F8_uc009yhv.2_Intron|E2F8_uc001mpn.3_Nonsense_Mutation_p.E651*	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	651					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						AAAATGGACTCTGCCCCCAGG	0.453												
NAV2	89797	broad.mit.edu	37	11	19955143	19955143	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:19955143C>T	uc010rdm.1	+	8	1783	c.1422C>T	c.(1420-1422)ACC>ACT	p.T474T	NAV2_uc001mpp.2_Silent_p.T387T|NAV2_uc001mpr.3_Silent_p.T451T	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	474						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TGCTCACCACCGTGGGCCCTG	0.602												
SLC5A12	159963	broad.mit.edu	37	11	26743064	26743064	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:26743064C>A	uc001mra.2	-	1	511	c.198G>T	c.(196-198)ACG>ACT	p.T66T	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.3_Silent_p.T66T	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	66	Helical; (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)|skin(1)	2						TCCCCAGGACCGTGACAGCTG	0.512												
NAT10	55226	broad.mit.edu	37	11	34165024	34165024	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:34165024A>G	uc001mvk.2	+	28	3162	c.2918A>G	c.(2917-2919)AAT>AGT	p.N973S	NAT10_uc010ren.1_Missense_Mutation_p.N901S	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	973	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAGAGTGGAATGAAGTTTTG	0.483												
FJX1	24147	broad.mit.edu	37	11	35641134	35641134	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:35641134G>A	uc001mwh.2	+	1	1400	c.950G>A	c.(949-951)CGC>CAC	p.R317H		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	317						extracellular space					0	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TGGGACCCGCGCGTCATGCAG	0.622												
TRAF6	7189	broad.mit.edu	37	11	36511400	36511400	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:36511400A>G	uc001mwr.1	-	8	1897	c.1557T>C	c.(1555-1557)GAT>GAC	p.D519D	uc001mwq.1_5'Flank|TRAF6_uc001mws.1_Silent_p.D519D	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	519					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				ATACCCCTGCATCAGTACTTC	0.478												
F2	2147	broad.mit.edu	37	11	46744794	46744794	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:46744794T>C	uc001ndf.3	+	5	424	c.381T>C	c.(379-381)ATT>ATC	p.I127I	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	127	Kringle 1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GGTCAGGCATTGAGTGCCAGC	0.607												
F2	2147	broad.mit.edu	37	11	46747450	46747450	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:46747450G>T	uc001ndf.3	+	7	644	c.601G>T	c.(601-603)GGC>TGC	p.G201C	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	201					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACGCTCCGAAGGCTCCAGTGT	0.493												
MADD	8567	broad.mit.edu	37	11	47311500	47311500	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:47311500C>T	uc001ner.1	+	18	3090	c.2899C>T	c.(2899-2901)CGC>TGC	p.R967C	MADD_uc001neq.2_Missense_Mutation_p.R947C|MADD_uc001nev.1_Missense_Mutation_p.R904C|MADD_uc001nes.1_Missense_Mutation_p.R924C|MADD_uc001net.1_Missense_Mutation_p.R967C|MADD_uc009yln.1_Missense_Mutation_p.R904C|MADD_uc001neu.1_Missense_Mutation_p.R904C|MADD_uc001nex.2_Missense_Mutation_p.R967C|MADD_uc001nez.2_Missense_Mutation_p.R904C|MADD_uc001new.2_Missense_Mutation_p.R947C|MADD_uc009ylo.2_5'Flank	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	967					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		GAAAAAGGTGCGCCGGCTGCT	0.607												
PTPRJ	5795	broad.mit.edu	37	11	48166268	48166268	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:48166268G>A	uc001ngp.3	+	13	2972	c.2617G>A	c.(2617-2619)GAT>AAT	p.D873N		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	873	Extracellular (Potential).|Fibronectin type-III 9.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						CACGTATGAGGATTTCAAAAA	0.398												
OR4C12	283093	broad.mit.edu	37	11	50003327	50003327	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:50003327G>T	uc010ria.1	-	1	711	c.711C>A	c.(709-711)ACC>ACA	p.T237T		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	237	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GAGAAATACAGGTGGAGAGGG	0.413												
OR4C16	219428	broad.mit.edu	37	11	55339694	55339694	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:55339694C>T	uc010rih.1	+	1	91	c.91C>T	c.(91-93)CGT>TGT	p.R31C		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)				TATTTTTTTGCGTCTCTACTT	0.373												
OR8I2	120586	broad.mit.edu	37	11	55860792	55860792	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:55860792C>T	uc010rix.1	+	1	9	c.9C>T	c.(7-9)GGC>GGT	p.G3G		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					AAATGGCTGGCAACAATTTCA	0.368												
OR8J1	219477	broad.mit.edu	37	11	56128400	56128400	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:56128400A>G	uc010rjh.1	+	1	678	c.678A>G	c.(676-678)TTA>TTG	p.L226L		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	226	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TGTCTATTTTAAAAATATGTT	0.323												
OR5AR1	219493	broad.mit.edu	37	11	56431207	56431207	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:56431207G>T	uc010rjm.1	+	1	46	c.46G>T	c.(46-48)GGC>TGC	p.G16C		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	16	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TATCTTCATGGGCATCACCCA	0.373												
OR5AR1	219493	broad.mit.edu	37	11	56431861	56431861	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:56431861C>T	uc010rjm.1	+	1	700	c.700C>T	c.(700-702)CGC>TGC	p.R234C		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCTGAAGGCCGCCTTAAGGC	0.483												
P2RX3	5024	broad.mit.edu	37	11	57135559	57135559	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:57135559G>A	uc001nju.2	+	9	995	c.919G>A	c.(919-921)GTG>ATG	p.V307M		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	307	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						CCGCTTCGACGTGCTGGTATA	0.572												
RTN4RL2	349667	broad.mit.edu	37	11	57243698	57243698	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:57243698C>T	uc010rjt.1	+	3	577	c.577C>T	c.(577-579)CTG>TTG	p.L193L		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2 precursor	193	LRR 6.				axon regeneration	anchored to plasma membrane	receptor activity				0						CCGCCTGCGGCTGCTCACAGA	0.682												
OR5B21	219968	broad.mit.edu	37	11	58275342	58275342	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:58275342C>T	uc010rki.1	-	1	237	c.237G>A	c.(235-237)ACG>ACA	p.T79T		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	79	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T79M(1)		ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCAGCCACCGTTTTGGGGG	0.517												
TMEM109	79073	broad.mit.edu	37	11	60689494	60689494	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:60689494G>A	uc001nqg.2	+	4	967	c.589G>A	c.(589-591)GCC>ACC	p.A197T	TMEM109_uc001nqh.2_Missense_Mutation_p.A197T|TMEM132A_uc001nqi.2_5'Flank|TMEM132A_uc001nqj.2_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	transmembrane protein 109 precursor	197	Helical; (Potential).					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane					0						GATCCTCTACGCCCTGCTGAG	0.677												
DAGLA	747	broad.mit.edu	37	11	61498870	61498870	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:61498870C>T	uc001nsa.2	+	9	1042	c.931C>T	c.(931-933)CGG>TGG	p.R311W		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	311	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		GTACCTGATGCGGAAGCCCGC	0.617												
INCENP	3619	broad.mit.edu	37	11	61916012	61916012	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:61916012G>A	uc001nsw.1	+	16	2471	c.2269G>A	c.(2269-2271)GAG>AAG	p.E757K	INCENP_uc009ynw.1_Missense_Mutation_p.E761K|INCENP_uc001nsx.1_Missense_Mutation_p.E753K|INCENP_uc001nsy.1_Missense_Mutation_p.E171K	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	757	Potential.				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						GGAACTGGAGGAGAAGAAGAA	0.637												
AHNAK	79026	broad.mit.edu	37	11	62290571	62290571	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:62290571T>C	uc001ntl.2	-	5	11618	c.11318A>G	c.(11317-11319)GAC>GGC	p.D3773G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3773					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ACCCTTGAGGTCACCTTCCAT	0.498												
AHNAK	79026	broad.mit.edu	37	11	62290971	62290971	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:62290971C>T	uc001ntl.2	-	5	11218	c.10918G>A	c.(10918-10920)GTT>ATT	p.V3640I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3640					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGAACATCAACGTCTACATTG	0.483												
ROM1	6094	broad.mit.edu	37	11	62381147	62381147	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:62381147G>A	uc001ntv.2	+	1	935	c.394G>A	c.(394-396)GCG>ACG	p.A132T	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank|EML3_uc009yny.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	132	Lumenal (Potential).				cell adhesion|visual perception	integral to plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TCTGGATGAGGCGCTGGAGGA	0.672												
PYGM	5837	broad.mit.edu	37	11	64522266	64522266	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:64522266C>T	uc001oax.3	-	8	1715	c.898G>A	c.(898-900)GTG>ATG	p.V300M	PYGM_uc001oay.3_Missense_Mutation_p.V212M	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	300					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	GCAGCCACCACGAAATACTCC	0.597												
SPDYC	387778	broad.mit.edu	37	11	64940678	64940678	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:64940678C>A	uc010rnz.1	+	7	872	c.872C>A	c.(871-873)CCT>CAT	p.P291H		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	291					cell cycle	nucleus	protein kinase binding				0						CCGGCACGCCCTGGGCACTGA	0.637												
TIGD3	220359	broad.mit.edu	37	11	65124594	65124594	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:65124594G>T	uc001odo.3	+	2	1478	c.1315G>T	c.(1315-1317)GGC>TGC	p.G439C		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	439					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CCGGGCCCTGGGCACCTTGAG	0.557												
DKFZp761E198	91056	broad.mit.edu	37	11	65547054	65547054	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:65547054G>A	uc001ofo.3	-	1	769	c.739C>T	c.(739-741)CCA>TCA	p.P247S		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	247	Leu-rich.						protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		AGTGCCGGTGGCTGTCCCTGC	0.652												
SF3B2	10992	broad.mit.edu	37	11	65826406	65826406	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:65826406C>T	uc001ogy.1	+	10	1112	c.1072C>T	c.(1072-1074)CGT>TGT	p.R358C		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	358					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3						AACCCGGTCCCGTGGCTCTGA	0.517												
CD248	57124	broad.mit.edu	37	11	66082358	66082358	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:66082358C>G	uc001ohm.1	-	1	2158	c.2141G>C	c.(2140-2142)GGC>GCC	p.G714A		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	714	Cytoplasmic (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	TGCATGGGGGCCACAGCGGGT	0.622												
RBM4	5936	broad.mit.edu	37	11	66410970	66410970	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:66410970C>T	uc009yrj.2	+	3	950	c.462C>T	c.(460-462)CCC>CCT	p.P154P	RBM4_uc009yrk.2_Silent_p.P129P|RBM4_uc001oiw.1_Silent_p.P154P|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Silent_p.P154P|RBM4_uc001oiz.1_Silent_p.P154P	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	154					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding			ovary(1)	1				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GGACTGCGCCCGGGATGGGAG	0.582												
IGHMBP2	3508	broad.mit.edu	37	11	68675625	68675625	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:68675625G>A	uc001ook.1	+	3	371	c.269G>A	c.(268-270)GGC>GAC	p.G90D	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	90					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GATATCGTGGGCCTGTACGAT	0.473												
IGHMBP2	3508	broad.mit.edu	37	11	68679004	68679004	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:68679004C>A	uc001ook.1	+	5	746	c.644C>A	c.(643-645)CCT>CAT	p.P215H	IGHMBP2_uc001ooj.1_RNA	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	215	ATP (By similarity).				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATCCATGGACCTCCTGGCACT	0.512												
TPCN2	219931	broad.mit.edu	37	11	68854605	68854605	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:68854605G>A	uc001oos.2	+	24	2227	c.2111G>A	c.(2110-2112)CGC>CAC	p.R704H	TPCN2_uc010rqg.1_Missense_Mutation_p.R522H|TPCN2_uc001oot.2_RNA	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	704	Cytoplasmic (Potential).				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGGACCCCCGCAGCCACCTG	0.642												
ANO1	55107	broad.mit.edu	37	11	70007369	70007369	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:70007369C>T	uc001opj.2	+	17	1986	c.1681C>T	c.(1681-1683)CGG>TGG	p.R561W	ANO1_uc001opk.1_Missense_Mutation_p.R503W|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.R270W	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	561	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						GTCCAACATCCGGGTCACAGT	0.587												
SHANK2	22941	broad.mit.edu	37	11	70319246	70319246	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:70319246G>A	uc001oqc.2	-	22	5356	c.5278C>T	c.(5278-5280)CGC>TGC	p.R1760C	SHANK2_uc010rqn.1_Missense_Mutation_p.R1172C|SHANK2_uc001opz.2_Missense_Mutation_p.R1165C|uc009ysn.1_Missense_Mutation_p.R49H|SHANK2_uc001opy.2_Missense_Mutation_p.R96C	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1381					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)			GACCTACTGCGTCCCGCTGGG	0.547												
ARHGEF17	9828	broad.mit.edu	37	11	73068356	73068356	+	Silent	SNP	C	C	T	rs144162252		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:73068356C>T	uc001otu.2	+	9	4092	c.4071C>T	c.(4069-4071)GAC>GAT	p.D1357D		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1357					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						CGCTGGAAGACGCAGACATCA	0.592												
SYTL2	54843	broad.mit.edu	37	11	85445200	85445200	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:85445200G>A	uc010rth.1	-	6	1445	c.1169C>T	c.(1168-1170)TCG>TTG	p.S390L	SYTL2_uc010rtg.1_Missense_Mutation_p.S391L|SYTL2_uc010rti.1_Missense_Mutation_p.S390L|SYTL2_uc010rtj.1_Missense_Mutation_p.S342L|SYTL2_uc001pbf.3_Missense_Mutation_p.S390L|SYTL2_uc010rtf.1_Missense_Mutation_p.S248L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	390					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATGAAAAAGCGAAGGCTTTCT	0.398												
GRM5	2915	broad.mit.edu	37	11	88386441	88386441	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:88386441T>G	uc001pcq.2	-	3	1242	c.1042A>C	c.(1042-1044)ACA>CCA	p.T348P	GRM5_uc009yvm.2_Missense_Mutation_p.T348P	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	348	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CGGTGGTTTGTTTCTGGCCGG	0.458												
MAML2	84441	broad.mit.edu	37	11	95712334	95712334	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:95712334C>T	uc001pfw.1	-	5	4534	c.3249G>A	c.(3247-3249)ACG>ACA	p.T1083T		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	1083					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)				AATTGCTGGGCGTCAGGGATG	0.478			T	MECT1|CRTC3	salivary gland mucoepidermoid							
CNTN5	53942	broad.mit.edu	37	11	99827584	99827584	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:99827584G>A	uc001pga.2	+	8	1059	c.720G>A	c.(718-720)GCG>GCA	p.A240A	CNTN5_uc009ywv.1_Silent_p.A240A|CNTN5_uc001pfz.2_Silent_p.A240A|CNTN5_uc001pgb.2_Silent_p.A166A	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	240	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTTTGTGGCGGAAGACAGCC	0.393												
CUL5	8065	broad.mit.edu	37	11	107920713	107920713	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:107920713T>C	uc001pjv.2	+	4	998	c.331T>C	c.(331-333)TTT>CTT	p.F111L	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	111					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ACCAAAACCTTTTTGTCAACT	0.348												
ACAT1	38	broad.mit.edu	37	11	108017007	108017007	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:108017007G>A	uc001pjy.2	+	11	1160	c.1084G>A	c.(1084-1086)GCA>ACA	p.A362T		NM_000019	NP_000010	P24752	THIL_HUMAN	acetyl-Coenzyme A acetyltransferase 1 precursor	362					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			ovary(3)	3		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	GGTTGTACTAGCAAACATTAA	0.333												
ZC3H12C	85463	broad.mit.edu	37	11	110035243	110035243	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:110035243G>T	uc009yxw.2	+	6	1484	c.1433G>T	c.(1432-1434)AGC>ATC	p.S478I	ZC3H12C_uc010rwc.1_Missense_Mutation_p.S479I|ZC3H12C_uc010rwd.1_Missense_Mutation_p.S479I|ZC3H12C_uc001pkr.3_Missense_Mutation_p.S447I	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	478							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AAGGCTGATAGCACTTCTGAT	0.468												
ANKK1	255239	broad.mit.edu	37	11	113268037	113268037	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:113268037C>T	uc001pny.2	+	6	1024	c.930C>T	c.(928-930)TGC>TGT	p.C310C		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	310							ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGGTGTCCTGCAAGCTGTCGC	0.592												
ANKK1	255239	broad.mit.edu	37	11	113270600	113270600	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:113270600G>A	uc001pny.2	+	8	2003	c.1909G>A	c.(1909-1911)GGG>AGG	p.G637R		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	637	ANK 9.						ATP binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|ovary(1)|breast(1)	8		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGCACGCCACGGGGAGGAGGC	0.642												
VPS11	55823	broad.mit.edu	37	11	118941055	118941055	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:118941055G>A	uc010ryx.1	+	5	626	c.584G>A	c.(583-585)CGC>CAC	p.R195H	VPS11_uc010ryy.1_Missense_Mutation_p.R41H	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	195					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TTGGCCTTTCGCCAAGCAGGA	0.522												
THY1	7070	broad.mit.edu	37	11	119291018	119291018	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:119291018C>T	uc001pwq.2	-	2	150	c.116G>A	c.(115-117)CGC>CAC	p.R39H	uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Missense_Mutation_p.R39H|THY1_uc001pws.2_RNA	NM_006288	NP_006279	P04216	THY1_HUMAN	Thy-1 cell surface antigen preproprotein	39	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity				0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		ATTCTCATGGCGGCAGTCCAG	0.597												
TECTA	7007	broad.mit.edu	37	11	121016689	121016689	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:121016689C>T	uc010rzo.1	+	11	3969	c.3969C>T	c.(3967-3969)TTC>TTT	p.F1323F		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1323					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCACCTTCTTCTATAAGAACT	0.567												
TECTA	7007	broad.mit.edu	37	11	121037313	121037313	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:121037313G>T	uc010rzo.1	+	17	5410	c.5410G>T	c.(5410-5412)GTG>TTG	p.V1804L		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1804					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGATGCAGAGGTGACCTGCAA	0.502												
SORL1	6653	broad.mit.edu	37	11	121403215	121403215	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:121403215G>A	uc001pxx.2	+	12	1719	c.1639G>A	c.(1639-1641)GGA>AGA	p.G547R		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	547	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGACCACGGCGGAATCATCAC	0.483												
SORL1	6653	broad.mit.edu	37	11	121477994	121477994	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:121477994G>A	uc001pxx.2	+	37	5241	c.5161G>A	c.(5161-5163)GTC>ATC	p.V1721I	SORL1_uc010rzp.1_Missense_Mutation_p.V567I|SORL1_uc010rzq.1_Missense_Mutation_p.V336I	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1721	Extracellular (Potential).|Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTATACACCGTCAGAGTGAG	0.463												
CDON	50937	broad.mit.edu	37	11	125873845	125873845	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:125873845C>T	uc009zbw.2	-	10	2106	c.1978G>A	c.(1978-1980)GCA>ACA	p.A660T	CDON_uc001qdb.3_Missense_Mutation_p.A37T|CDON_uc001qdc.3_Missense_Mutation_p.A660T	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	660	Extracellular (Potential).|Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCACCTGCTGCGCTTCTTGCT	0.512												
SRPR	6734	broad.mit.edu	37	11	126135224	126135224	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:126135224C>T	uc001qdh.2	-	10	1301	c.1250G>A	c.(1249-1251)CGC>CAC	p.R417H	SRPR_uc010sbm.1_Missense_Mutation_p.R389H	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	417					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GACATAAGGGCGCTGGCGACG	0.542												
NTM	50863	broad.mit.edu	37	11	132180070	132180070	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:132180070G>A	uc001qgp.2	+	5	1390	c.726G>A	c.(724-726)CAG>CAA	p.Q242Q	NTM_uc001qgm.2_Silent_p.Q242Q|NTM_uc010sch.1_Silent_p.Q233Q|NTM_uc010sci.1_Silent_p.Q242Q|NTM_uc010scj.1_Silent_p.Q201Q|NTM_uc001qgo.2_Silent_p.Q242Q|NTM_uc001qgq.2_Silent_p.Q242Q|NTM_uc001qgr.2_Translation_Start_Site	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	242	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						GGACACTGCAGTGTGAAGCCT	0.527												
C12orf4	57102	broad.mit.edu	37	12	4627343	4627343	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:4627343T>C	uc001qms.2	-	8	1002	c.914A>G	c.(913-915)CAT>CGT	p.H305R	C12orf4_uc001qmt.2_Missense_Mutation_p.H305R	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	305											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ACCACTTCGATGATTTCTTTT	0.423												
GALNT8	26290	broad.mit.edu	37	12	4855350	4855350	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:4855350T>C	uc001qne.1	+	6	1191	c.1099T>C	c.(1099-1101)TTC>CTC	p.F367L		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	367	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						TAACAGGCACTTCCTGGGAGA	0.532												
VWF	7450	broad.mit.edu	37	12	6167034	6167034	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:6167034G>A	uc001qnn.1	-	14	1960	c.1710C>T	c.(1708-1710)TGC>TGT	p.C570C	VWF_uc010set.1_Silent_p.C570C	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	570	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GGTTGAGGGCGCAGGGATCGC	0.662												
GPR162	27239	broad.mit.edu	37	12	6936019	6936019	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:6936019G>T	uc001qqw.1	+	5	1952	c.1417G>T	c.(1417-1419)GGT>TGT	p.G473C	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.G189C|GPR162_uc009zfd.1_Missense_Mutation_p.G169C|GPR162_uc001qqy.1_Intron	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	473	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGAGGCTGAAGGTGGGGGGCT	0.667												
CD163L1	283316	broad.mit.edu	37	12	7548698	7548698	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:7548698G>A	uc001qsy.2	-	8	2069	c.2043C>T	c.(2041-2043)ATC>ATT	p.I681I	CD163L1_uc010sge.1_Silent_p.I691I	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	681	SRCR 6.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TACCAGAACAGATCACTCCAA	0.438												
CD163L1	283316	broad.mit.edu	37	12	7556301	7556301	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:7556301G>A	uc001qsy.2	-	6	1264	c.1238C>T	c.(1237-1239)CCG>CTG	p.P413L	CD163L1_uc010sge.1_Missense_Mutation_p.P423L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	413	SRCR 4.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						GACGCTGAACGGACATCCTAG	0.463												
A2M	2	broad.mit.edu	37	12	9266084	9266084	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:9266084A>G	uc001qvk.1	-	2	255	c.142T>C	c.(142-144)TGT>CGT	p.C48R	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	48					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	AGAAGGACACAGCCCTTCTCA	0.532												
CLEC12A	160364	broad.mit.edu	37	12	10137481	10137481	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:10137481C>T	uc001qwr.3	+	6	842	c.654C>T	c.(652-654)AAC>AAT	p.N218N	CLEC12A_uc001qwq.2_Silent_p.N228N|CLEC12A_uc001qws.3_Silent_p.N185N|CLEC12A_uc001qwt.2_Silent_p.N147N	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor	218	Extracellular (Potential).|C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1						TTATAAGAAACGCACCTGACT	0.249												
PLEKHA5	54477	broad.mit.edu	37	12	19522684	19522684	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:19522684C>T	uc001reb.2	+	25	3400	c.3314C>T	c.(3313-3315)CCG>CTG	p.P1105L	PLEKHA5_uc001rea.2_Missense_Mutation_p.P1163L|PLEKHA5_uc009zin.2_Missense_Mutation_p.P863L|PLEKHA5_uc010sif.1_Missense_Mutation_p.P1094L|PLEKHA5_uc010sig.1_Missense_Mutation_p.P1087L|PLEKHA5_uc009zio.2_Missense_Mutation_p.P371L	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	1105							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCCACTCAGCCGCAGCTCACA	0.403												
SLCO1B1	10599	broad.mit.edu	37	12	21325632	21325632	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:21325632G>A	uc001req.3	+	3	237	c.133G>A	c.(133-135)GCA>ACA	p.A45T		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	45	Helical; Name=1; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GACACTAGGTGCAATTATTAT	0.358												
PYROXD1	79912	broad.mit.edu	37	12	21602582	21602582	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:21602582G>A	uc001rew.2	+	4	498	c.371G>A	c.(370-372)GGA>GAA	p.G124E	PYROXD1_uc009ziq.2_5'UTR|PYROXD1_uc009zir.2_Intron	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase	124							oxidoreductase activity			ovary(1)	1						atatgtgaaggaaatcctTAT	0.254												
ETNK1	55500	broad.mit.edu	37	12	22796816	22796816	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:22796816G>A	uc001rft.2	+	2	565	c.543G>A	c.(541-543)GAG>GAA	p.E181E	ETNK1_uc009ziz.2_Silent_p.E181E|ETNK1_uc001rfs.2_Silent_p.E181E	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1 isoform A	181					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity				0						ATCGAGATGAGGAAGTAAAGA	0.408												
C12orf11	55726	broad.mit.edu	37	12	27075620	27075620	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:27075620G>A	uc001rhk.3	-	8	1355	c.818C>T	c.(817-819)GCT>GTT	p.A273V	C12orf11_uc010sjk.1_Missense_Mutation_p.A172V	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	hypothetical protein LOC55726	273					cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)					AGATGTGTTAGCATGCTGTTC	0.279												
CNTN1	1272	broad.mit.edu	37	12	41327522	41327522	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:41327522G>A	uc001rmm.1	+	9	940	c.827G>A	c.(826-828)CGG>CAG	p.R276Q	CNTN1_uc009zjy.1_Missense_Mutation_p.R276Q|CNTN1_uc001rmn.1_Missense_Mutation_p.R265Q|CNTN1_uc001rmo.2_Missense_Mutation_p.R276Q	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	276	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATCCGATGGCGGAAGGTTCTA	0.378												
PDZRN4	29951	broad.mit.edu	37	12	41961668	41961668	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:41961668A>C	uc010skn.1	+	9	1022	c.954A>C	c.(952-954)GAA>GAC	p.E318D	PDZRN4_uc001rmq.3_Missense_Mutation_p.E259D|PDZRN4_uc009zjz.2_Missense_Mutation_p.E257D|PDZRN4_uc001rmr.2_Missense_Mutation_p.E144D	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing RING finger 4 isoform 2	517							ubiquitin-protein ligase activity|zinc ion binding			lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGCATAATGAAGCAATGCAGC	0.398												
ADAMTS20	80070	broad.mit.edu	37	12	43777488	43777488	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:43777488T>G	uc010skx.1	-	31	4670	c.4670A>C	c.(4669-4671)GAG>GCG	p.E1557A		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1557	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATCTGTGCACTCCATTCGTTG	0.343												
ANO6	196527	broad.mit.edu	37	12	45822891	45822891	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:45822891G>A	uc001roo.2	+	20	2865	c.2530G>A	c.(2530-2532)GTC>ATC	p.V844I	ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Missense_Mutation_p.V865I|ANO6_uc010slg.1_Missense_Mutation_p.V826I	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	844	Helical; (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						TCCCCAGCACGTCATCTACTC	0.393												
MLL2	8085	broad.mit.edu	37	12	49420273	49420273	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:49420273C>T	uc001rta.3	-	48	15476	c.15476G>A	c.(15475-15477)CGG>CAG	p.R5159Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5159					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						CACCTCGTCCCGCTCAATGTA	0.562			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49440450	49440450	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:49440450T>C	uc001rta.3	-	15	4360	c.4360A>G	c.(4360-4362)ACA>GCA	p.T1454A		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1454	Cys-rich.|PHD-type 4.				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						AGGCAGTATGTGTGGTAGCTA	0.602			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
TUBA1A	7846	broad.mit.edu	37	12	49579153	49579153	+	Silent	SNP	A	A	G	rs148479477		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:49579153A>G	uc009zlf.2	-	4	1268	c.996T>C	c.(994-996)ATT>ATC	p.I332I	TUBA1B_uc001rto.2_Intron|TUBA1A_uc001rtp.2_Silent_p.I332I|TUBA1A_uc001rtq.2_Silent_p.I179I|TUBA1A_uc001rtr.2_Silent_p.I179I|TUBA1A_uc009zlg.2_Silent_p.I179I	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	332					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity				0						TGATGGTGGCAATGGCAGCAT	0.537												
TROAP	10024	broad.mit.edu	37	12	49719360	49719360	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:49719360C>A	uc001rtx.3	+	4	581	c.414C>A	c.(412-414)AGC>AGA	p.S138R	TROAP_uc009zlh.2_Missense_Mutation_p.S138R|TROAP_uc001rty.2_5'Flank	NM_005480	NP_005471	Q12815	TROAP_HUMAN	tastin isoform 1	138					cell adhesion	cytoplasm				ovary(1)	1						GTGTGAAGAGCTGTCACCTGG	0.567												
MCRS1	10445	broad.mit.edu	37	12	49953241	49953241	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:49953241G>A	uc001ruk.1	-	12	1272	c.1081C>T	c.(1081-1083)CGT>TGT	p.R361C	MCRS1_uc001rui.1_Missense_Mutation_p.R374C|MCRS1_uc001ruj.1_Missense_Mutation_p.R348C|MCRS1_uc001rul.1_Missense_Mutation_p.R361C|MCRS1_uc009zlj.1_Missense_Mutation_p.R170C|MCRS1_uc001rum.1_Missense_Mutation_p.R348C	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	361					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1						CTCACCTCACGCGAGCGCATC	0.602												
PRPF40B	25766	broad.mit.edu	37	12	50029242	50029242	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:50029242G>A	uc001rur.1	+	13	1259	c.1195G>A	c.(1195-1197)GCC>ACC	p.A399T	PRPF40B_uc001rup.1_Missense_Mutation_p.A421T|PRPF40B_uc001ruq.1_Missense_Mutation_p.A393T|PRPF40B_uc001rus.1_Missense_Mutation_p.A342T	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	399					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						CTTCTTCCTGGCCAAGAAGGA	0.527												
CELA1	1990	broad.mit.edu	37	12	51723605	51723605	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:51723605C>T	uc001ryi.1	-	7	663	c.622G>A	c.(622-624)GGC>AGC	p.G208S		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	208	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			breast(1)	1						TGGAGGGGGCCCCCAGAGTCA	0.547												
KRT86	3892	broad.mit.edu	37	12	52695706	52695706	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:52695706T>C	uc010snq.1	+	2	139	c.6T>C	c.(4-6)ACT>ACC	p.T2T	KRT86_uc009zmg.2_Silent_p.T2T|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Silent_p.T2T	NM_002284	NP_002275	O43790	KRT86_HUMAN	keratin 86	2	Head.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCACCATGACTTGTGGATCTT	0.637												
KRT6A	3853	broad.mit.edu	37	12	52885416	52885416	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:52885416C>A	uc001sam.2	-	2	854	c.645G>T	c.(643-645)GAG>GAT	p.E215D		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	215	Rod.|Linker 1.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGATGTACTGCTCGAACAACG	0.592												
CSAD	51380	broad.mit.edu	37	12	53554091	53554091	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:53554091G>A	uc001sby.2	-	13	1105	c.979C>T	c.(979-981)CGC>TGC	p.R327C	CSAD_uc001sbw.2_Missense_Mutation_p.R180C|CSAD_uc009zmt.2_Missense_Mutation_p.R109C|CSAD_uc010snx.1_Missense_Mutation_p.R354C|CSAD_uc001sbz.2_Missense_Mutation_p.R327C|CSAD_uc009zmu.2_Missense_Mutation_p.R180C|CSAD_uc001sca.3_RNA	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	327					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCATGGCAGCGCTTGAGCAGG	0.602									Hereditary_Prostate_Cancer			
ESPL1	9700	broad.mit.edu	37	12	53677280	53677280	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:53677280T>C	uc001sck.2	+	16	3126	c.3035T>C	c.(3034-3036)TTG>TCG	p.L1012S	ESPL1_uc001scj.2_Missense_Mutation_p.L687S|ESPL1_uc010soe.1_Missense_Mutation_p.L223S	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1012					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						GCCTTTTGCTTGGAGGCCCTA	0.532												
HNRNPA1	3178	broad.mit.edu	37	12	54676226	54676226	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:54676226C>A	uc001sfl.2	+	5	643	c.539C>A	c.(538-540)GCC>GAC	p.A180D	CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.A180D|HNRNPA1_uc009zng.2_Missense_Mutation_p.A180D|HNRNPA1_uc009znh.2_Missense_Mutation_p.A180D|HNRNPA1_uc009zni.2_Missense_Mutation_p.A180D|HNRNPA1_uc001sfn.2_Missense_Mutation_p.A180D|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.A135D|HNRNPA1_uc009znj.1_Missense_Mutation_p.A135D	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	180	Globular B domain.|RRM 2.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						GTTAGAAAAGCCCTGTCAAAG	0.373												
SLC39A5	283375	broad.mit.edu	37	12	56630453	56630453	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:56630453A>G	uc010sqj.1	+	10	1387	c.1130A>G	c.(1129-1131)CAC>CGC	p.H377R	SLC39A5_uc010sqk.1_Missense_Mutation_p.H377R	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	377	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						AGTCATGGGCACCAGGGTGGC	0.632												
BAZ2A	11176	broad.mit.edu	37	12	56994066	56994066	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:56994066A>G	uc001slq.1	-	24	5011	c.4817T>C	c.(4816-4818)CTC>CCC	p.L1606P	BAZ2A_uc001slp.1_Missense_Mutation_p.L1604P|BAZ2A_uc001slo.1_Missense_Mutation_p.L412P|BAZ2A_uc009zov.1_Missense_Mutation_p.L572P|BAZ2A_uc009zow.1_Missense_Mutation_p.L1574P	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1606					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						AGTTGGCCAGAGGGGCTCCCG	0.592												
GLI1	2735	broad.mit.edu	37	12	57864329	57864329	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:57864329G>A	uc001snx.2	+	12	1884	c.1806G>A	c.(1804-1806)TCG>TCA	p.S602S	GLI1_uc009zpq.2_Silent_p.S474S	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	602					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGGTACTTCGCCCACTGCAG	0.597												
AGAP2	116986	broad.mit.edu	37	12	58124620	58124620	+	Silent	SNP	G	G	A	rs147633851	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:58124620G>A	uc001spq.2	-	11	2262	c.2262C>T	c.(2260-2262)AAC>AAT	p.N754N	AGAP2_uc001spp.2_Silent_p.N754N|AGAP2_uc001spr.2_Silent_p.N418N	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	754	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						TGACGAGCCCGTTAATGCTGG	0.592												
AVIL	10677	broad.mit.edu	37	12	58201268	58201268	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:58201268C>T	uc001sqj.1	-	12	1366	c.1337G>A	c.(1336-1338)CGC>CAC	p.R446H	AVIL_uc009zqe.1_Missense_Mutation_p.R439H|AVIL_uc001sqk.1_Missense_Mutation_p.R24H|AVIL_uc001sql.3_Missense_Mutation_p.R423H	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	446	Gelsolin-like 4.|Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGAGGCGTGGCGGCCCTGCAA	0.627												
AVPR1A	552	broad.mit.edu	37	12	63543909	63543909	+	Silent	SNP	G	G	A	rs149088415		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:63543909G>A	uc001sro.1	-	1	2682	c.708C>T	c.(706-708)TAC>TAT	p.Y236Y		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	236	Helical; Name=5; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGATGAAGCCGTAGCAGGTAC	0.627												
TBK1	29110	broad.mit.edu	37	12	64854020	64854020	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:64854020C>T	uc001ssc.1	+	3	201	c.139C>T	c.(139-141)CGT>TGT	p.R47C		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	47	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		AAGCTTCCTTCGTCCAGTGGA	0.269												
HELB	92797	broad.mit.edu	37	12	66725241	66725241	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:66725241C>T	uc001sti.2	+	12	3006	c.2978C>T	c.(2977-2979)GCC>GTC	p.A993V	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	993					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)		ACAGACCACGCCATGACAAAT	0.542												
RAP1B	5908	broad.mit.edu	37	12	69042518	69042518	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:69042518A>G	uc001sub.2	+	2	177	c.14A>G	c.(13-15)AAG>AGG	p.K5R	RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Missense_Mutation_p.K5R|RAP1B_uc010stf.1_Missense_Mutation_p.K5R|RAP1B_uc010stg.1_Missense_Mutation_p.K5R|RAP1B_uc010sth.1_Missense_Mutation_p.K5R|RAP1B_uc010sti.1_Missense_Mutation_p.K5R	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;	5					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)		CGTGAGTATAAGCTAGTCGTT	0.373												
ZFC3H1	196441	broad.mit.edu	37	12	72026000	72026000	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:72026000C>A	uc001swo.2	-	15	3471	c.3112G>T	c.(3112-3114)GGT>TGT	p.G1038C		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1038					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						CTGCTTGAACCAGACAAAATT	0.348												
E2F7	144455	broad.mit.edu	37	12	77444367	77444367	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:77444367G>T	uc001sym.3	-	4	763	c.527C>A	c.(526-528)GCT>GAT	p.A176D	E2F7_uc001syn.2_Missense_Mutation_p.A176D	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	176	Potential.				cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						AAGACTGACAGCAACTTCATC	0.453												
SYT1	6857	broad.mit.edu	37	12	79685798	79685798	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:79685798A>G	uc001sys.2	+	7	1033	c.362A>G	c.(361-363)GAT>GGT	p.D121G	SYT1_uc001syt.2_Missense_Mutation_p.D121G|SYT1_uc001syu.2_Missense_Mutation_p.D118G|SYT1_uc001syv.2_Missense_Mutation_p.D121G	NM_001135805	NP_001129277	P21579	SYT1_HUMAN	synaptotagmin I	121	Cytoplasmic (Potential).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6						GCCCTCAAGGATGATGATGCT	0.388												
MYF6	4618	broad.mit.edu	37	12	81102325	81102325	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:81102325G>A	uc001szf.1	+	2	595	c.542G>A	c.(541-543)CGC>CAC	p.R181H		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	181					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						GATTTCCTGCGCACCTGCAGC	0.592												
CRADD	8738	broad.mit.edu	37	12	94243943	94243943	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:94243943C>T	uc001tda.2	+	3	600	c.496C>T	c.(496-498)CGT>TGT	p.R166C	CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron	NM_003805	NP_003796	P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with	166	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			ovary(1)	1						GGCCTTCATCCGTTGGCGGCA	0.642												
PLXNC1	10154	broad.mit.edu	37	12	94676091	94676091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:94676091C>T	uc001tdc.2	+	23	4042	c.3793C>T	c.(3793-3795)CGA>TGA	p.R1265*	PLXNC1_uc010sut.1_Nonsense_Mutation_p.R312*|PLXNC1_uc009zsv.2_Nonsense_Mutation_p.R4*	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1265	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						AATGGGCACACGACAGAAAGA	0.388												
SLC5A8	160728	broad.mit.edu	37	12	101581230	101581230	+	Silent	SNP	G	G	A	rs147034851	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:101581230G>A	uc001thz.3	-	7	1287	c.897C>T	c.(895-897)CTC>CTT	p.L299L		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	299	Helical; (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						AATATAGGGCGAGCCCACAAA	0.453												
IGF1	3479	broad.mit.edu	37	12	102811676	102811676	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:102811676G>T	uc001tjp.3	-	4	727	c.508C>A	c.(508-510)CAG>AAG	p.Q170K	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	insulin-like growth factor 1 isoform 3	170					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|pancreas(1)	2						CCTCTGATCTGCAGACTTGCT	0.478												
STAB2	55576	broad.mit.edu	37	12	104049047	104049047	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:104049047C>T	uc001tjw.2	+	14	1756	c.1570C>T	c.(1570-1572)CTA>TTA	p.L524L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	524	Extracellular (Potential).|FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						AATGACAATGCTACAACCAAG	0.284												
EID3	493861	broad.mit.edu	37	12	104698101	104698101	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:104698101A>T	uc001tkw.2	+	1	553	c.389A>T	c.(388-390)AAT>ATT	p.N130I	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						GTGGGTCTGAATTGGATGGAA	0.398												
CRY1	1407	broad.mit.edu	37	12	107393779	107393779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:107393779G>A	uc001tmi.3	-	6	1625	c.766C>T	c.(766-768)CGA>TGA	p.R256*		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	256	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3						CAACCAAATCGGAGATAAGGA	0.363												
SSH1	54434	broad.mit.edu	37	12	109210869	109210869	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:109210869G>A	uc001tnm.2	-	5	433	c.346C>T	c.(346-348)CGC>TGC	p.R116C	SSH1_uc010sxg.1_Missense_Mutation_p.R127C|SSH1_uc001tnn.3_Missense_Mutation_p.R116C|SSH1_uc001tno.1_Missense_Mutation_p.R43C	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	116					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						GTGTCCTGGCGCCCGCTGCTG	0.597												
ACACB	32	broad.mit.edu	37	12	109704119	109704119	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:109704119G>A	uc001tob.2	+	53	7448	c.7329G>A	c.(7327-7329)GCG>GCA	p.A2443A	ACACB_uc001toc.2_Silent_p.A2443A|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.A1109A	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2443					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)	CTGAGCGGGCGCAGGTCGTTC	0.647												
UBE3B	89910	broad.mit.edu	37	12	109948193	109948193	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:109948193G>A	uc001top.2	+	17	2389	c.1786G>A	c.(1786-1788)GGG>AGG	p.G596R	UBE3B_uc001toq.2_Missense_Mutation_p.G596R|UBE3B_uc001tos.2_Missense_Mutation_p.G23R|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.G596R	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	596					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						GTCTGTCCACGGGTGGCTTAT	0.612												
ATP2A2	488	broad.mit.edu	37	12	110770466	110770466	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:110770466C>T	uc001tqk.3	+	9	1723	c.1160C>T	c.(1159-1161)TCA>TTA	p.S387L	ATP2A2_uc001tql.3_Missense_Mutation_p.S387L|ATP2A2_uc010sxy.1_Missense_Mutation_p.S360L	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	387	Cytoplasmic (By similarity).|Interacts with phospholamban 1 (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						ATAACTGGATCAACTTATGCA	0.418												
PPP1CC	5501	broad.mit.edu	37	12	111168366	111168366	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:111168366C>T	uc001tru.2	-	3	631	c.386G>A	c.(385-387)AGC>AAC	p.S129N		NM_002710	NP_002701	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma	129					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			lung(2)|central_nervous_system(1)	3						TCTGTTGATGCTGGCACATTC	0.328												
CUX2	23316	broad.mit.edu	37	12	111758403	111758403	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:111758403C>T	uc001tsa.1	+	17	2743	c.2590C>T	c.(2590-2592)CGG>TGG	p.R864W		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	864						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GGCGGGCGCGCGGCTGCCCTA	0.736												
CUX2	23316	broad.mit.edu	37	12	111785628	111785628	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:111785628G>A	uc001tsa.1	+	22	4113	c.3960G>A	c.(3958-3960)GAG>GAA	p.E1320E		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1320						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						ACTCAGGGGAGCTGGACAAAG	0.622												
ATXN2	6311	broad.mit.edu	37	12	111923112	111923112	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:111923112C>T	uc001tsj.2	-	18	3123	c.2961G>A	c.(2959-2961)ACG>ACA	p.T987T	ATXN2_uc001tsh.2_Silent_p.T722T|ATXN2_uc001tsi.2_Silent_p.T698T|ATXN2_uc001tsk.2_Intron|ATXN2_uc001tsg.2_Silent_p.T173T	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	987	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						CTGGCATGGGCGTCATAGGTA	0.363												
CCDC60	160777	broad.mit.edu	37	12	119773055	119773055	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:119773055C>T	uc001txe.2	+	1	539	c.74C>T	c.(73-75)TCG>TTG	p.S25L		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	25										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TTTTATGCCTCGGAGAACCTA	0.413												
RAB35	11021	broad.mit.edu	37	12	120546244	120546244	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:120546244C>T	uc001txm.1	-	2	225	c.80G>A	c.(79-81)CGT>CAT	p.R27H	RAB35_uc009zww.1_5'UTR|RAB35_uc010szh.1_Missense_Mutation_p.R27H	NM_006861	NP_006852	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	27					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		GTCTGCAAAACGCAACAGTAA	0.577												
MORN3	283385	broad.mit.edu	37	12	122107269	122107269	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:122107269C>T	uc001uax.2	-	1	292	c.121G>A	c.(121-123)GAG>AAG	p.E41K	MORN3_uc001uay.2_RNA	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	41	MORN 1.										0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TCCTTCCACTCGCCCACATAG	0.627											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GLT1D1	144423	broad.mit.edu	37	12	129442187	129442187	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:129442187A>G	uc010tbh.1	+	12	902	c.893A>G	c.(892-894)CAG>CGG	p.Q298R	GLT1D1_uc001uhx.1_Missense_Mutation_p.Q213R|GLT1D1_uc001uhy.1_RNA	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	293					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TCCAATCCTCAGGTAAAGAAA	0.443												
PUS1	80324	broad.mit.edu	37	12	132426054	132426054	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:132426054G>A	uc001ujf.2	+	5	1241	c.762G>A	c.(760-762)CCG>CCA	p.P254P	PUS1_uc001ujg.2_Silent_p.P226P|PUS1_uc001ujh.2_Silent_p.P226P|PUS1_uc001uji.2_Silent_p.P201P	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN	pseudouridine synthase 1 isoform 1	254						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AGAAGGGGCCGCAGGATCCCA	0.622												
NOC4L	79050	broad.mit.edu	37	12	132632289	132632289	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:132632289G>A	uc001ujz.1	+	5	606	c.565G>A	c.(565-567)GTG>ATG	p.V189M		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	189					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GCAGGCAGCCGTGGATGCCGT	0.667												
EFHA1	221154	broad.mit.edu	37	13	22095413	22095413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:22095413C>A	uc001uof.2	-	6	590	c.568G>T	c.(568-570)GAG>TAG	p.E190*		NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	190	EF-hand 1.						calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		TCAATCATCTCATTACCATCT	0.308												
SACS	26278	broad.mit.edu	37	13	23906308	23906308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:23906308G>A	uc001uon.2	-	10	12296	c.11707C>T	c.(11707-11709)CGA>TGA	p.R3903*	SACS_uc001uoo.2_Nonsense_Mutation_p.R3756*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3903					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)		GCAAGGTCTCGTACATTCTCG	0.438												
MIPEP	4285	broad.mit.edu	37	13	24330693	24330693	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:24330693T>C	uc001uox.3	-	18	2135	c.2035A>G	c.(2035-2037)ATG>GTG	p.M679V		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase precursor	679					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CCTTCAACCATGAGCATGGGC	0.453												
GSX1	219409	broad.mit.edu	37	13	28367140	28367140	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:28367140G>A	uc001urr.1	+	1	361	c.313G>A	c.(313-315)GGG>AGG	p.G105R		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	105					positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TGTGTCGCCCGGGGTCGCTCA	0.652												
MTUS2	23281	broad.mit.edu	37	13	29599560	29599560	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:29599560G>A	uc001usl.3	+	1	813	c.755G>A	c.(754-756)CGT>CAT	p.R252H		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	242						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						AAGAGTGTGCGTCATCCTAAA	0.562												
HSPH1	10808	broad.mit.edu	37	13	31725098	31725098	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:31725098G>A	uc001utj.2	-	7	1292	c.894C>T	c.(892-894)TCC>TCT	p.S298S	HSPH1_uc001utk.2_Silent_p.S298S|HSPH1_uc010aaw.2_Silent_p.S257S|HSPH1_uc001utl.2_Silent_p.S300S|HSPH1_uc010tds.1_Silent_p.S222S|HSPH1_uc010tdt.1_RNA	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	298					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCATCTTTCCGGAAACATCTT	0.388												
BRCA2	675	broad.mit.edu	37	13	32912670	32912670	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:32912670C>T	uc001uub.1	+	11	4405	c.4178C>T	c.(4177-4179)GCG>GTG	p.A1393V		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1393					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)		TTGGAAGTTGCGAAAGCTCAA	0.333			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)		
BRCA2	675	broad.mit.edu	37	13	32915239	32915239	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:32915239C>T	uc001uub.1	+	11	6974	c.6747C>T	c.(6745-6747)GCC>GCT	p.A2249A		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2249					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)		CAAGTCATGCCACACATTCTC	0.368			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)		
BRCA2	675	broad.mit.edu	37	13	32972773	32972773	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:32972773A>G	uc001uub.1	+	27	10350	c.10123A>G	c.(10123-10125)AGT>GGT	p.S3375G		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3375					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)		TGCTCCCACCAGTTCAGAAGA	0.408			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)		
SOHLH2	54937	broad.mit.edu	37	13	36767799	36767799	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:36767799C>T	uc001uvj.2	-	4	478	c.389G>A	c.(388-390)AGT>AAT	p.S130N	SOHLH2_uc010tei.1_Missense_Mutation_p.S207N	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	130					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TACCACATTACTCATTTTTTC	0.308												
SPG20	23111	broad.mit.edu	37	13	36905566	36905566	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:36905566C>A	uc001uvn.2	-	4	1248	c.978G>T	c.(976-978)CTG>CTT	p.L326L	SPG20_uc010ten.1_Silent_p.L326L|SPG20_uc001uvm.2_Silent_p.L326L|SPG20_uc001uvo.2_Silent_p.L326L|SPG20_uc001uvq.2_Silent_p.L326L|SPG20_uc001uvp.2_Silent_p.L326L	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	326					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTTGCCTTAACAGATCCTCAA	0.428												
WBP4	11193	broad.mit.edu	37	13	41645700	41645700	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:41645700C>T	uc001uxt.2	+	6	590	c.477C>T	c.(475-477)GAC>GAT	p.D159D	WBP4_uc010tfd.1_Silent_p.D138D	NM_007187	NP_009118	O75554	WBP4_HUMAN	WW domain-containing binding protein 4	159					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|kidney(1)	3		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TTCAAGGAGACTTAAAAAAGG	0.269												
ENOX1	55068	broad.mit.edu	37	13	43934138	43934138	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:43934138G>A	uc001uza.3	-	7	738	c.438C>T	c.(436-438)GTC>GTT	p.V146V	ENOX1_uc001uzb.3_Silent_p.V146V|ENOX1_uc001uzc.3_Silent_p.V146V|ENOX1_uc010tfm.1_5'UTR	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	146	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTAATCCTCCGACAAACACGG	0.378												
TSC22D1	8848	broad.mit.edu	37	13	45149730	45149730	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:45149730T>C	uc001uzn.3	-	1	972	c.481A>G	c.(481-483)AGG>GGG	p.R161G	TSC22D1_uc001uzo.1_Missense_Mutation_p.R161G	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	161					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)		TCAGTAGCCCTGGAAAGTGAC	0.512												
NUFIP1	26747	broad.mit.edu	37	13	45563443	45563443	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:45563443C>T	uc001uzp.2	-	1	171	c.129G>A	c.(127-129)CTG>CTA	p.L43L	KIAA1704_uc010tfo.1_5'Flank|KIAA1704_uc001uzq.2_5'Flank|KIAA1704_uc001uzr.1_5'Flank|KIAA1704_uc001uzs.2_5'Flank	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein	43	Pro-rich.				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding				0		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GCGGTGGCGGCAGCATTGCCC	0.682												
ZC3H13	23091	broad.mit.edu	37	13	46559623	46559623	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:46559623C>T	uc010tfw.1	-	9	1535	c.1529G>A	c.(1528-1530)CGT>CAT	p.R510H	ZC3H13_uc001vas.1_Missense_Mutation_p.R510H|ZC3H13_uc001vat.1_Missense_Mutation_p.R510H	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	510	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCGACCTTCACGGTCCCTGTA	0.483												
HTR2A	3356	broad.mit.edu	37	13	47409176	47409176	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:47409176T>G	uc001vbq.2	-	3	1346	c.1212A>C	c.(1210-1212)AAA>AAC	p.K404N	HTR2A_uc001vbr.2_Missense_Mutation_p.K304N|HTR2A_uc010acr.2_Missense_Mutation_p.K404N	NM_000621	NP_000612	P28223	5HT2A_HUMAN	5-hydroxytryptamine receptor 2A isoform 1	404	Cytoplasmic (By similarity).				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACTGCAATGGTTTTTTGTTTT	0.398												
ATP7B	540	broad.mit.edu	37	13	52524252	52524252	+	Missense_Mutation	SNP	G	G	A	rs121907994		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:52524252G>A	uc001vfw.2	-	11	2778	c.2621C>T	c.(2620-2622)GCG>GTG	p.A874V	ATP7B_uc010adv.2_Missense_Mutation_p.A444V|ATP7B_uc001vfx.2_Missense_Mutation_p.A712V|ATP7B_uc001vfy.2_Missense_Mutation_p.A763V|ATP7B_uc010tgt.1_Missense_Mutation_p.A874V|ATP7B_uc010tgu.1_Missense_Mutation_p.A826V|ATP7B_uc010tgv.1_Missense_Mutation_p.A796V|ATP7B_uc001vfv.2_Missense_Mutation_p.A146V|ATP7B_uc010tgs.1_Missense_Mutation_p.A146V	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	874	Cytoplasmic (Potential).		A -> V (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TATAGACCCCGCAATTACAGT	0.502									Wilson_disease			
PCDH8	5100	broad.mit.edu	37	13	53420573	53420573	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:53420573G>T	uc001vhi.2	-	1	2202	c.1999C>A	c.(1999-2001)CGC>AGC	p.R667S	PCDH8_uc001vhj.2_Missense_Mutation_p.R667S	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	667	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCCCCCGTGCGGCGGCCGATG	0.721												
PCDH17	27253	broad.mit.edu	37	13	58207209	58207209	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:58207209G>A	uc001vhq.1	+	1	1421	c.529G>A	c.(529-531)GGC>AGC	p.G177S	PCDH17_uc010aec.1_Missense_Mutation_p.G177S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	177	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGACGATCACGGCCTCTTTGG	0.642												
TDRD3	81550	broad.mit.edu	37	13	61068589	61068589	+	Silent	SNP	T	T	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:61068589T>A	uc001via.2	+	8	1247	c.459T>A	c.(457-459)GGT>GGA	p.G153G	TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Silent_p.G153G|TDRD3_uc010aeg.2_Silent_p.G246G|TDRD3_uc001vib.3_Silent_p.G152G	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	153					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)		TTGGAGGAGGTGGTGGTGGTG	0.353												
FARP1	10160	broad.mit.edu	37	13	99030142	99030142	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:99030142G>A	uc001vnj.2	+	6	802	c.466G>A	c.(466-468)GCA>ACA	p.A156T	FARP1_uc001vnh.2_Missense_Mutation_p.A156T	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	156	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGACACCAGCGCAGCTCTCTT	0.453												
DOCK9	23348	broad.mit.edu	37	13	99515694	99515694	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:99515694C>T	uc001vnt.2	-	31	3453	c.3398G>A	c.(3397-3399)CGT>CAT	p.R1133H	DOCK9_uc001vnw.2_Missense_Mutation_p.R1132H|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R1133H|DOCK9_uc010tis.1_Missense_Mutation_p.R1132H|DOCK9_uc010tit.1_Missense_Mutation_p.R1133H|DOCK9_uc010tiq.1_Missense_Mutation_p.R111H|DOCK9_uc010afu.1_Missense_Mutation_p.R979H	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	1133					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGCGATCAGACGGACCTCCCG	0.502												
ZIC2	7546	broad.mit.edu	37	13	100634887	100634887	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:100634887G>A	uc001von.2	+	1	569	c.569G>A	c.(568-570)CGC>CAC	p.R190H		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	190	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTGTTCGGGCGCTCGGAGCAA	0.677												
NALCN	259232	broad.mit.edu	37	13	101881812	101881812	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:101881812T>C	uc001vox.1	-	13	1747	c.1558A>G	c.(1558-1560)ATG>GTG	p.M520V	NALCN_uc001voy.2_Missense_Mutation_p.M235V|NALCN_uc001voz.2_Missense_Mutation_p.M520V|NALCN_uc001vpa.2_Missense_Mutation_p.M520V	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	520	Helical; Name=S5 of repeat II; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTGCTGACATAACAATCAAG	0.368												
NALCN	259232	broad.mit.edu	37	13	102029355	102029355	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:102029355C>T	uc001vox.1	-	5	617	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R143Q|NALCN_uc001vpa.2_Missense_Mutation_p.R143Q	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	143	Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCGTGGAATCCGCAACATGCC	0.403												
IRS2	8660	broad.mit.edu	37	13	110434417	110434417	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:110434417G>A	uc001vqv.2	-	1	4498	c.3984C>T	c.(3982-3984)CAC>CAT	p.H1328H		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1328				LPPANTYASIDFLSHHLKEATIVKE -> PAPCPTTYAQH (in Ref. 1; BAA24500).	fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CCTTCAAGTGGTGGGACAAGA	0.692												
IRS2	8660	broad.mit.edu	37	13	110436712	110436712	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:110436712C>T	uc001vqv.2	-	1	2203	c.1689G>A	c.(1687-1689)GCG>GCA	p.A563A		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	563					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGTCCTGGGCCGCGTCCCCCG	0.726												
COL4A1	1282	broad.mit.edu	37	13	110814631	110814631	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:110814631C>T	uc001vqw.3	-	48	4530	c.4408G>A	c.(4408-4410)GGG>AGG	p.G1470R	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1470	Collagen IV NC1.				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)			AAAGAGTACCCGTGGTAAAGA	0.512												
COL4A1	1282	broad.mit.edu	37	13	110835356	110835356	+	Silent	SNP	C	C	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:110835356C>G	uc001vqw.3	-	28	2201	c.2079G>C	c.(2077-2079)GGG>GGC	p.G693G	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	693	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)			GGCCGGGGGGCCCTGGAAATC	0.612												
FLJ10357	55701	broad.mit.edu	37	14	21542925	21542925	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:21542925G>A	uc001vzp.2	+	3	1065	c.1036G>A	c.(1036-1038)GGA>AGA	p.G346R	FLJ10357_uc001vzn.1_Missense_Mutation_p.G346R|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	346	Gly-rich.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		AGAAGCCTCCGGATCTTGCCC	0.652												
LRP10	26020	broad.mit.edu	37	14	23345071	23345071	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:23345071G>A	uc001whd.2	+	5	1467	c.914G>A	c.(913-915)CGG>CAG	p.R305Q	LRP10_uc001whe.2_Missense_Mutation_p.R181Q	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	305	CUB 2.|Extracellular (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TACCATGTGCGGGGCTATTGC	0.592												
JPH4	84502	broad.mit.edu	37	14	24041061	24041061	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:24041061C>T	uc001wkq.2	-	5	2138	c.1220G>A	c.(1219-1221)CGA>CAA	p.R407Q	JPH4_uc010tnr.1_Missense_Mutation_p.R72Q|JPH4_uc001wkr.2_Missense_Mutation_p.R407Q	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	407	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TTTGGCCATTCGAGCTGCCTC	0.632												
PRKD1	5587	broad.mit.edu	37	14	30100065	30100065	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:30100065C>T	uc001wqh.2	-	10	1736	c.1555G>A	c.(1555-1557)GTT>ATT	p.V519I		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	519	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTGGTGAGAACACTGTTATTT	0.512												
ARHGAP5	394	broad.mit.edu	37	14	32561268	32561268	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:32561268T>C	uc001wrl.2	+	2	1632	c.1393T>C	c.(1393-1395)TAT>CAT	p.Y465H	ARHGAP5_uc001wrm.2_Missense_Mutation_p.Y465H|ARHGAP5_uc001wrn.2_Missense_Mutation_p.Y465H|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	465	FF 3.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	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)		AGCCTACAAATATATCACTGA	0.378												
AKAP6	9472	broad.mit.edu	37	14	33291546	33291546	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:33291546C>T	uc001wrq.2	+	13	4697	c.4527C>T	c.(4525-4527)TGC>TGT	p.C1509C		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1509					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAAATCATGCAAATCTAAAC	0.368												
NPAS3	64067	broad.mit.edu	37	14	34269096	34269096	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:34269096G>A	uc001wru.2	+	12	1647	c.1583G>A	c.(1582-1584)AGC>AAC	p.S528N	NPAS3_uc001wrs.2_Missense_Mutation_p.S515N|NPAS3_uc001wrt.2_Missense_Mutation_p.S496N|NPAS3_uc001wrv.2_Missense_Mutation_p.S498N	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGCCGCGACAGCGACGACAGC	0.642												
BAZ1A	11177	broad.mit.edu	37	14	35245412	35245412	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:35245412T>C	uc001wsk.2	-	18	3114	c.2546A>G	c.(2545-2547)CAG>CGG	p.Q849R	BAZ1A_uc001wsl.2_Missense_Mutation_p.Q817R	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	849	Interaction with SMARCA5.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ATCTTGAGACTGTACATTATT	0.423												
RALGAPA1	253959	broad.mit.edu	37	14	36074845	36074845	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:36074845T>C	uc001wti.2	-	35	5873	c.5482A>G	c.(5482-5484)AAT>GAT	p.N1828D	RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.N1828D|RALGAPA1_uc010tpv.1_Missense_Mutation_p.N1841D|RALGAPA1_uc010tpw.1_Missense_Mutation_p.N1875D	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	1828	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						CCTCCTGTATTGGTGAGAATG	0.338												
POLE2	5427	broad.mit.edu	37	14	50140860	50140860	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:50140860C>T	uc001wwu.2	-	5	412	c.398G>A	c.(397-399)CGA>CAA	p.R133Q	SDCCAG1_uc010anj.1_Intron|POLE2_uc001wwv.2_RNA	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	133					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	p.R133Q(1)		ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					AATGGTATATCGCTCACGAAA	0.423												
NID2	22795	broad.mit.edu	37	14	52478332	52478332	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:52478332G>A	uc001wzo.2	-	17	3724	c.3490C>T	c.(3490-3492)CGG>TGG	p.R1164W	NID2_uc010tqs.1_Missense_Mutation_p.R1116W|NID2_uc010tqt.1_Missense_Mutation_p.R1164W	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1164	LDL-receptor class B 1.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGATTGTCCGTCCAGCAACA	0.488												
PPM1A	5494	broad.mit.edu	37	14	60758133	60758133	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:60758133C>T	uc010apn.2	+	6	1482	c.1080C>T	c.(1078-1080)GCC>GCT	p.A360A	PPM1A_uc001xew.3_Silent_p.A433A|PPM1A_uc001xey.3_Silent_p.A360A	NM_021003	NP_066283	P35813	PPM1A_HUMAN	protein phosphatase 1A isoform 1	360					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)		TTATTGAAGCCGTTTACAATA	0.358												
TMEM30B	161291	broad.mit.edu	37	14	61747056	61747056	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:61747056G>A	uc001xfl.2	-	1	1475	c.810C>T	c.(808-810)CGC>CGT	p.R270R	PRKCH_uc010tsa.1_Intron|TMEM30B_uc010apr.1_RNA	NM_001017970	NP_001017970	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	270						integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		AGTTGCCCTGGCGGATGCGCG	0.667												
SYNE2	23224	broad.mit.edu	37	14	64519599	64519599	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:64519599G>A	uc001xgm.2	+	48	9198	c.8968G>A	c.(8968-8970)GCT>ACT	p.A2990T	SYNE2_uc001xgl.2_Missense_Mutation_p.A2990T	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2990	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGACTCACCGCTATTAAGTG	0.348												
AKAP5	9495	broad.mit.edu	37	14	64935359	64935359	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:64935359A>G	uc001xhd.3	+	2	625	c.247A>G	c.(247-249)AAA>GAA	p.K83E	ZBTB25_uc001xhc.2_Intron	NM_004857	NP_004848	P24588	AKAP5_HUMAN	A-kinase anchor protein 5	83	Essential to the intracellular anchoring function (By similarity).|AKAP.				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding				0				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		GGCCTCACTCAAACGTCTTGT	0.522												
RGS6	9628	broad.mit.edu	37	14	72818835	72818835	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:72818835C>T	uc001xna.3	+	3	640	c.117C>T	c.(115-117)GAC>GAT	p.D39D	RGS6_uc010ttn.1_Silent_p.D39D|RGS6_uc001xmx.3_Silent_p.D39D|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.D39D	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	39					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGCAAGATGACAAGACAGGGG	0.398												
ACOT1	641371	broad.mit.edu	37	14	74009913	74009913	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:74009913C>T	uc001xol.1	+	3	1018	c.820C>T	c.(820-822)CCT>TCT	p.P274S	HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Intron	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	274					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GACCCTGCCCCCTGTGGGCGT	0.557												
C14orf43	91748	broad.mit.edu	37	14	74205578	74205578	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:74205578A>C	uc001xot.2	-	2	1917	c.1134T>G	c.(1132-1134)CAT>CAG	p.H378Q	C14orf43_uc001xou.2_Missense_Mutation_p.H378Q|C14orf43_uc010tud.1_Missense_Mutation_p.H378Q|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	378	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)		GGGGCCAGTGATGTAGGAACA	0.682												
ALDH6A1	4329	broad.mit.edu	37	14	74534179	74534179	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:74534179G>A	uc001xpo.2	-	8	1045	c.946C>T	c.(946-948)CGC>TGC	p.R316C	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Missense_Mutation_p.R161C|ALDH6A1_uc010tuq.1_Missense_Mutation_p.R303C	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	316						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GCCATGCAGCGCTGACCAGCA	0.522												
MLH3	27030	broad.mit.edu	37	14	75513915	75513915	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:75513915T>C	uc001xrd.1	-	2	2660	c.2444A>G	c.(2443-2445)GAT>GGT	p.D815G	MLH3_uc001xre.1_Missense_Mutation_p.D815G|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	815					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACAACTACTATCTGAATCACT	0.403								MMR				
TGFB3	7043	broad.mit.edu	37	14	76429726	76429726	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:76429726G>A	uc001xsc.2	-	5	1715	c.859C>T	c.(859-861)CGG>TGG	p.R287W	TGFB3_uc001xsd.2_Missense_Mutation_p.R285W	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	287					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TTGTCGAGCCGGTGTGGGGGA	0.572												
C14orf4	64207	broad.mit.edu	37	14	77492017	77492017	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:77492017T>C	uc001xsy.2	-	1	3018	c.2119A>G	c.(2119-2121)ATG>GTG	p.M707V		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	707						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		CTGTTGGCCATGGGGGAATCC	0.592												
TMEM63C	57156	broad.mit.edu	37	14	77712359	77712359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:77712359G>T	uc001xtf.2	+	17	1737	c.1525G>T	c.(1525-1527)GGA>TGA	p.G509*	TMEM63C_uc010asq.1_Nonsense_Mutation_p.G509*	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	509	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCCCTCTATGGGACTGACCAG	0.453												
TMEM63C	57156	broad.mit.edu	37	14	77715752	77715752	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:77715752G>A	uc001xtf.2	+	21	2201	c.1989G>A	c.(1987-1989)GCG>GCA	p.A663A	TMEM63C_uc010asq.1_Silent_p.A663A	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	663	Helical; (Potential).					integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCATCTTTGCGCCACTCTTGG	0.557												
NRXN3	9369	broad.mit.edu	37	14	80328022	80328022	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:80328022G>T	uc001xun.2	+	17	3392	c.2901G>T	c.(2899-2901)CCG>CCT	p.P967P	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.P543P|NRXN3_uc010asw.2_Silent_p.P365P|NRXN3_uc001xur.3_Silent_p.P338P	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1549	Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCACGGAGCCGGGAATCAGAC	0.597												
BTBD7	55727	broad.mit.edu	37	14	93723553	93723553	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:93723553G>A	uc001ybo.2	-	6	1922	c.1596C>T	c.(1594-1596)GTC>GTT	p.V532V	BTBD7_uc010aur.2_Silent_p.V57V|BTBD7_uc010two.1_Silent_p.V352V|BTBD7_uc001ybp.2_Silent_p.V181V|BTBD7_uc001ybq.3_Silent_p.V447V	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	532										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CATCACTTAAGACTTCACTGT	0.353												
KIAA1409	57578	broad.mit.edu	37	14	94007040	94007040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:94007040C>T	uc001ybv.1	+	10	939	c.856C>T	c.(856-858)CGA>TGA	p.R286*	KIAA1409_uc001ybs.1_Nonsense_Mutation_p.R286*|KIAA1409_uc001ybu.1_Nonsense_Mutation_p.R224*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	463						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		TGCTGAGCAGCGAGAACATGA	0.483												
SERPINA4	5267	broad.mit.edu	37	14	95033573	95033573	+	Missense_Mutation	SNP	C	C	T	rs143608450	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:95033573C>T	uc001ydk.2	+	3	982	c.916C>T	c.(916-918)CGG>TGG	p.R306W	SERPINA4_uc010avd.2_Missense_Mutation_p.R343W|SERPINA4_uc001ydl.2_Missense_Mutation_p.R306W	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	306					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		CAACTTGTTGCGGAAGAGGTA	0.433												
RCOR1	23186	broad.mit.edu	37	14	103059413	103059413	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:103059413G>C	uc001ymb.2	+	1	181	c.181G>C	c.(181-183)GCC>CCC	p.A61P		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	61	Ala-rich.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1						agccgccgccgccCCCAATAA	0.299												
KLC1	3831	broad.mit.edu	37	14	104145810	104145810	+	Silent	SNP	C	C	T	rs149675489		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:104145810C>T	uc001yno.2	+	13	1886	c.1578C>T	c.(1576-1578)AAC>AAT	p.N526N	KLC1_uc010tyd.1_Silent_p.N685N|KLC1_uc010tye.1_Silent_p.N547N|KLC1_uc001ynm.1_Silent_p.N526N|KLC1_uc001ynn.1_Silent_p.N520N|KLC1_uc010tyf.1_Silent_p.N526N|KLC1_uc001ynp.1_RNA|KLC1_uc001ynr.1_Silent_p.N36N|KLC1_uc010awu.1_RNA|KLC1_uc001ynq.1_Silent_p.N36N|KLC1_uc001yns.2_RNA	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	526					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGAGCCTCAACGTGGACGTGG	0.567												
XRCC3	7517	broad.mit.edu	37	14	104165791	104165791	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:104165791G>A	uc001yny.3	-	8	1064	c.684C>T	c.(682-684)TCC>TCT	p.S228S	KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Silent_p.S228S|XRCC3_uc001ynz.3_Silent_p.S228S|XRCC3_uc001yoa.3_Silent_p.S228S	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	228					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CCCTGGGGGCGGAGGCCTGGC	0.642								Direct_reversal_of_damage|Homologous_recombination				
AHNAK2	113146	broad.mit.edu	37	14	105407964	105407964	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:105407964C>T	uc010axc.1	-	7	13944	c.13824G>A	c.(13822-13824)GCG>GCA	p.A4608A	AHNAK2_uc001ypx.2_Silent_p.A4508A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4608						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCAAGCCGCGCACCATCCA	0.587												
AHNAK2	113146	broad.mit.edu	37	14	105410343	105410343	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:105410343C>T	uc010axc.1	-	7	11565	c.11445G>A	c.(11443-11445)GTG>GTA	p.V3815V	AHNAK2_uc001ypx.2_Silent_p.V3715V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3815						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGGCAGACACCCCAAATG	0.587												
JAG2	3714	broad.mit.edu	37	14	105618041	105618041	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:105618041C>T	uc001yqg.2	-	8	1479	c.1075G>A	c.(1075-1077)GGG>AGG	p.G359R	JAG2_uc001yqf.2_5'Flank|JAG2_uc001yqh.2_Missense_Mutation_p.G359R	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	359	EGF-like 4.|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)		CAAGAGCCCCCGTTGGCACAC	0.667												
BRF1	2972	broad.mit.edu	37	14	105683991	105683991	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:105683991C>T	uc001yqp.2	-	15	2025	c.1662G>A	c.(1660-1662)CCG>CCA	p.P554P	BRF1_uc010tyo.1_Silent_p.P439P|BRF1_uc010typ.1_Silent_p.P461P|BRF1_uc001yqk.2_Silent_p.P80P|BRF1_uc001yql.2_Silent_p.P350P|BRF1_uc001yqo.2_Silent_p.P316P|BRF1_uc010axg.1_Silent_p.P527P|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_Silent_p.P80P	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	554					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CCTCCCTGTGCGGACTGCCCC	0.637												
MKRN3	7681	broad.mit.edu	37	15	23812238	23812238	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:23812238T>C	uc001ywh.3	+	1	1785	c.1309T>C	c.(1309-1311)TCA>CCA	p.S437P	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	437						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGTGGTGGGTCATTCAGCGC	0.537												
RYR3	6263	broad.mit.edu	37	15	33928729	33928729	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:33928729C>T	uc001zhi.2	+	27	3604	c.3534C>T	c.(3532-3534)TTC>TTT	p.F1178F	RYR3_uc010bar.2_Silent_p.F1178F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1178	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACTTGCCTTCGCTGACTACG	0.493												
SPRED1	161742	broad.mit.edu	37	15	38632012	38632012	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:38632012G>A	uc001zka.3	+	5	833	c.498G>A	c.(496-498)GAG>GAA	p.E166E		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	sprouty-related protein 1 with EVH-1 domain	166					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			ovary(2)|lung(2)|skin(1)	5		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTACCAGTGAGCCTTATAGAA	0.403									Legius_syndrome			
C15orf54	400360	broad.mit.edu	37	15	39544753	39544753	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:39544753C>T	uc001zkg.2	+	2	785	c.417C>T	c.(415-417)TGC>TGT	p.C139C		NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	139											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		AGCGTGTGTGCACTATATTGG	0.473												
THBS1	7057	broad.mit.edu	37	15	39885727	39885727	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:39885727A>G	uc001zkh.2	+	19	3304	c.3125A>G	c.(3124-3126)CAA>CGA	p.Q1042R	THBS1_uc010bbi.2_Missense_Mutation_p.Q514R	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	1042	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ATGTGGAAGCAAGTCACCCAG	0.537												
EIF2AK4	440275	broad.mit.edu	37	15	40318214	40318214	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:40318214C>T	uc001zkm.1	+	33	4476	c.4426C>T	c.(4426-4428)CGT>TGT	p.R1476C	EIF2AK4_uc010bbj.1_Missense_Mutation_p.R1177C|EIF2AK4_uc001zkn.1_Missense_Mutation_p.R576C|EIF2AK4_uc001zko.1_Missense_Mutation_p.R357C|EIF2AK4_uc010bbk.1_Intron	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1476	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GACAGAGAAGCGTGTGCTGGA	0.443												
RPUSD2	27079	broad.mit.edu	37	15	40865952	40865952	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:40865952A>G	uc001zmd.1	+	3	1130	c.1130A>G	c.(1129-1131)CAG>CGG	p.Q377R		NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing	377					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			skin(1)	1		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GTCCACCTTCAGTTCTTGGGC	0.577												
VPS18	57617	broad.mit.edu	37	15	41188187	41188187	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:41188187G>A	uc001zne.2	+	2	482	c.143G>A	c.(142-144)CGC>CAC	p.R48H		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	48					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)		ACAAAGCAGCGCATTGACTTC	0.507												
SPTBN5	51332	broad.mit.edu	37	15	42151169	42151169	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:42151169C>T	uc001zos.2	-	48	8226	c.7893G>A	c.(7891-7893)GCG>GCA	p.A2631A		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2666	Spectrin 23.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCTGAAGAGCGCCTCCTTCC	0.677												
PLA2G4D	283748	broad.mit.edu	37	15	42371835	42371835	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:42371835G>A	uc001zox.2	-	13	1312	c.1217C>T	c.(1216-1218)GCG>GTG	p.A406V		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	406	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCGGTAGCTCGCCAGGCGCTC	0.667												
GANC	2595	broad.mit.edu	37	15	42602614	42602614	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:42602614A>G	uc001zpi.2	+	9	1170	c.856A>G	c.(856-858)AAT>GAT	p.N286D	GANC_uc001zph.2_Missense_Mutation_p.N286D|GANC_uc001zpj.1_Missense_Mutation_p.N25D	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	286					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			central_nervous_system(2)	2		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TTTCTGGCTGAATGCCTCGGA	0.408												
ADAL	161823	broad.mit.edu	37	15	43627977	43627977	+	Silent	SNP	C	C	T	rs146713520		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:43627977C>T	uc010udo.1	+	5	721	c.147C>T	c.(145-147)CAC>CAT	p.H49H	ADAL_uc001zrh.2_Silent_p.H49H	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	adenosine deaminase-like isoform 1	49					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding				0		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TTAAAATCCACGATCAGATGA	0.393												
ZSCAN29	146050	broad.mit.edu	37	15	43654005	43654005	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:43654005T>G	uc001zrk.1	-	5	1972	c.1825A>C	c.(1825-1827)AGT>CGT	p.S609R	ZSCAN29_uc001zrj.1_Missense_Mutation_p.S489R|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R537S|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.S219R	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	609					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTACAGTCACTCTCATTGCCT	0.443												
WDR76	79968	broad.mit.edu	37	15	44143344	44143344	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:44143344C>T	uc001zti.1	+	9	1115	c.1092C>T	c.(1090-1092)AGC>AGT	p.S364S		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	364	WD 2.										0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		AGCCAGTTAGCTGTCTTTACT	0.473												
C15orf43	145645	broad.mit.edu	37	15	45250696	45250696	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:45250696C>T	uc001zuk.2	+	3	289	c.272C>T	c.(271-273)GCG>GTG	p.A91V		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	hypothetical protein LOC145645	91											0		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		CTTCCTCCTGCGTGCCTGCAA	0.413												
DUOX1	53905	broad.mit.edu	37	15	45444607	45444607	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:45444607G>A	uc001zus.1	+	26	3663	c.3317G>A	c.(3316-3318)CGC>CAC	p.R1106H	DUOX1_uc001zut.1_Missense_Mutation_p.R1106H|DUOX1_uc010bee.1_Missense_Mutation_p.R486H|DUOX1_uc001zuu.2_Missense_Mutation_p.R248H	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1106	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).|Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACCATGTGCCGCAACCTCATC	0.597												
SECISBP2L	9728	broad.mit.edu	37	15	49327620	49327620	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:49327620A>G	uc001zxe.1	-	3	573	c.439T>C	c.(439-441)TGC>CGC	p.C147R	SECISBP2L_uc001zxd.1_Missense_Mutation_p.C147R|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.C147R	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	147										breast(1)|skin(1)	2						CGCTCAGTGCATTCTGTGGTG	0.473												
ATP8B4	79895	broad.mit.edu	37	15	50168644	50168644	+	Missense_Mutation	SNP	C	C	T	rs139968118	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:50168644C>T	uc001zxu.2	-	25	3000	c.2858G>A	c.(2857-2859)CGT>CAT	p.R953H	ATP8B4_uc010ber.2_Missense_Mutation_p.R826H|ATP8B4_uc010ufd.1_Missense_Mutation_p.R763H|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_5'UTR	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	953	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GAAAAATTTACGCTTGTTAAA	0.448												
AP4E1	23431	broad.mit.edu	37	15	51217295	51217295	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:51217295G>A	uc001zyx.1	+	5	451	c.421G>A	c.(421-423)GAT>AAT	p.D141N	AP4E1_uc010ufi.1_Missense_Mutation_p.D141N|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_RNA	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	141					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GTTGTGCCAGGATCTGCAGAG	0.378												
UNC13C	440279	broad.mit.edu	37	15	54306982	54306982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:54306982G>T	uc002ack.2	+	1	1882	c.1882G>T	c.(1882-1884)GGA>TGA	p.G628*		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	628					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTGGATAGTGGAATGAGTAA	0.468												
DYX1C1	161582	broad.mit.edu	37	15	55790442	55790442	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:55790442C>T	uc002adc.2	-	2	454	c.86G>A	c.(85-87)AGA>AAA	p.R29K	CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Missense_Mutation_p.R29K|DYX1C1_uc002add.2_Missense_Mutation_p.R29K	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1 isoform a	29	CS.|Mediates interaction with ESR1 and STUB1.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			skin(1)	1				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GTCCGTGTCTCTGACGCACAC	0.567												
PYGO1	26108	broad.mit.edu	37	15	55841142	55841142	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:55841142C>T	uc010bfl.1	-	2	157	c.101G>A	c.(100-102)AGC>AAC	p.S34N	PYGO1_uc002adf.1_Missense_Mutation_p.S34N	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	34					Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CTTATCTGGGCTTCCTAGTTG	0.368												
FOXB1	27023	broad.mit.edu	37	15	60297960	60297960	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:60297960G>A	uc002agj.1	+	2	1277	c.798G>A	c.(796-798)ACG>ACA	p.T266T	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	266					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	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			ovary(1)|central_nervous_system(1)	2						TTAAGCCCACGCCGGCCGCCG	0.721												
TLN2	83660	broad.mit.edu	37	15	63089583	63089583	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:63089583C>T	uc002alb.3	+	45	6216	c.6216C>T	c.(6214-6216)TCC>TCT	p.S2072S	TLN2_uc002alc.3_Silent_p.S465S	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	2072					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GCCTGGGCTCCGACGACCCCG	0.677												
ZWILCH	55055	broad.mit.edu	37	15	66819666	66819666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:66819666G>A	uc002aqb.2	+	9	1104	c.858G>A	c.(856-858)TGG>TGA	p.W286*	RPL4_uc002apx.2_5'Flank|ZWILCH_uc010bhu.1_Nonsense_Mutation_p.W172*|ZWILCH_uc002aqa.2_Nonsense_Mutation_p.W172*|ZWILCH_uc010bhv.2_Nonsense_Mutation_p.W172*	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Zwilch	286					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			ovary(1)	1						TCACTGAATGGCTCGAGCCCC	0.368												
LCTL	197021	broad.mit.edu	37	15	66857094	66857094	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:66857094C>T	uc002aqc.2	-	2	334	c.202G>A	c.(202-204)GTC>ATC	p.V68I	LCTL_uc002aqd.3_Intron|LCTL_uc010bhw.2_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	68	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						TGTGTGAAGACGTCCCAGATG	0.627												
IQCH	64799	broad.mit.edu	37	15	67757528	67757528	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:67757528T>C	uc002aqo.1	+	17	2616	c.2569T>C	c.(2569-2571)TAC>CAC	p.Y857H	IQCH_uc002aqq.1_Missense_Mutation_p.Y514H|IQCH_uc002aqp.1_Missense_Mutation_p.Y518H|uc002aqr.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	857										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		ACTCACCTTATACCTGACAAA	0.507												
PIAS1	8554	broad.mit.edu	37	15	68445963	68445963	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:68445963G>A	uc002aqz.2	+	7	960	c.864G>A	c.(862-864)TTG>TTA	p.L288L	PIAS1_uc010ujx.1_Silent_p.L288L	NM_016166	NP_057250	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	288	PINIT.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)	2						TAAAACAGTTGTCCTCAACAG	0.318												
THSD4	79875	broad.mit.edu	37	15	71535237	71535237	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:71535237G>A	uc002atb.1	+	4	793	c.714G>A	c.(712-714)GCG>GCA	p.A238A	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	238	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						TGCAGGCTGCGGAGGCCCCCA	0.572												
HCN4	10021	broad.mit.edu	37	15	73617395	73617395	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:73617395T>C	uc002avp.2	-	6	2873	c.1879A>G	c.(1879-1881)ACC>GCC	p.T627A		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	627	Cytoplasmic (Potential).|cAMP.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		TTGCCAATGGTGCCTTCCCGG	0.577												
CLK3	1198	broad.mit.edu	37	15	74912475	74912475	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:74912475G>A	uc010uln.1	+	3	1183	c.722G>A	c.(721-723)CGG>CAG	p.R241Q	CLK3_uc002ayg.3_Missense_Mutation_p.R93Q|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R241Q|CLK3_uc002ayj.3_Missense_Mutation_p.R93Q|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	241	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						CGTCATCGTCGGCGATCGCGG	0.622												
CSK	1445	broad.mit.edu	37	15	75091041	75091041	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:75091041A>G	uc010bkb.1	+	4	284	c.101A>G	c.(100-102)GAC>GGC	p.D34G	CSK_uc010bka.2_Silent_p.R104R|CSK_uc002ays.2_Missense_Mutation_p.D34G|CSK_uc010bkc.1_5'Flank	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	34	Interaction with PTPN8 (By similarity).|SH3.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						TGCAAAGGAGACGTGCTCACC	0.617												
MAN2C1	4123	broad.mit.edu	37	15	75648732	75648732	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:75648732C>A	uc002baf.2	-	24	2813	c.2796G>T	c.(2794-2796)TTG>TTT	p.L932F	MIR631_hsa-mir-631|MI0003645_5'Flank|MAN2C1_uc002bag.2_Intron|MAN2C1_uc002bah.2_Missense_Mutation_p.L949F|MAN2C1_uc010bkk.2_Missense_Mutation_p.L833F	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	932					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						CTGGCAGAGCCAACAGGGGGA	0.617												
SIN3A	25942	broad.mit.edu	37	15	75676749	75676749	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:75676749A>G	uc002bai.2	-	17	3310	c.3051T>C	c.(3049-3051)TGT>TGC	p.C1017C	SIN3A_uc002baj.2_Silent_p.C1017C|SIN3A_uc010uml.1_Silent_p.C1017C	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1017					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						TCACCTGCACACAGATCTCAT	0.468												
ALPK3	57538	broad.mit.edu	37	15	85406054	85406054	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:85406054C>A	uc002ble.2	+	10	5091	c.4924C>A	c.(4924-4926)CGC>AGC	p.R1642S	ALPK3_uc010upc.1_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1642	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGAGTCGGGCCGCACGTGCAT	0.592												
KLHL25	64410	broad.mit.edu	37	15	86312936	86312936	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:86312936G>T	uc002bly.2	-	2	309	c.106C>A	c.(106-108)CTC>ATC	p.L36I		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	36						cytoplasm				ovary(2)	2						AGCGTGTTGAGGTGGGCCAGC	0.657												
MAN2A2	4122	broad.mit.edu	37	15	91450046	91450046	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:91450046C>T	uc010bnz.2	+	7	1027	c.912C>T	c.(910-912)GCC>GCT	p.A304A	MAN2A2_uc010boa.2_Silent_p.A346A|MAN2A2_uc002bqc.2_Silent_p.A304A|MAN2A2_uc010uql.1_Silent_p.A8A|MAN2A2_uc010uqm.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	304	Lumenal (Potential).				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			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCGCCGTGCCAACCTCACCA	0.592												
ADAMTS17	170691	broad.mit.edu	37	15	100802556	100802556	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:100802556C>T	uc002bvv.1	-	5	952	c.873_splice	c.e5+1	p.P291_splice	ADAMTS17_uc002bvx.1_Splice_Site_p.P48_splice	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1						proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGGGGACTTACGGGACGTTGT	0.488												
LRRK1	79705	broad.mit.edu	37	15	101605617	101605617	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:101605617C>T	uc002bwr.2	+	32	5294	c.4975C>T	c.(4975-4977)CGG>TGG	p.R1659W	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1659					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCCGTGGTGCGGGGCACCCC	0.582												
RHBDF1	64285	broad.mit.edu	37	16	108438	108438	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:108438G>A	uc002cfl.3	-	21	2617	c.2469C>T	c.(2467-2469)TAC>TAT	p.Y823Y		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	823	Helical; (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGGATAGACGTAGAAGAGGA	0.552												
TMEM8A	58986	broad.mit.edu	37	16	425384	425384	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:425384G>A	uc002cgu.3	-	7	1405	c.1276C>T	c.(1276-1278)CCC>TCC	p.P426S	TMEM8A_uc002cgv.3_Missense_Mutation_p.P233S	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	426	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						CCAAGGAAGGGCGAGGCAGCA	0.672												
MSLN	10232	broad.mit.edu	37	16	816414	816414	+	Missense_Mutation	SNP	G	G	A	rs150147307		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:816414G>A	uc002cjw.1	+	12	1205	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	MSLN_uc002cjt.1_Missense_Mutation_p.R385H|MSLN_uc002cju.1_Missense_Mutation_p.R385H|MSLN_uc010brd.1_Missense_Mutation_p.R384H|MSLN_uc002cjv.1_Missense_Mutation_p.R385H|MSLN_uc002cjx.1_Missense_Mutation_p.R385H|MSLN_uc002cjy.1_Missense_Mutation_p.R50H	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	385					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				GAGGACATTCGCAAGTGGAAT	0.567												
TPSD1	23430	broad.mit.edu	37	16	1306823	1306823	+	Missense_Mutation	SNP	A	A	G	rs143852280		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:1306823A>G	uc002clb.1	+	3	289	c.280A>G	c.(280-282)AGG>GGG	p.R94G	TPSD1_uc010brm.1_Splice_Site_p.P23_splice	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	tryptase delta 1 precursor	94	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GGCCGCCCTCAGGGTGCAACT	0.662												
CLCN7	1186	broad.mit.edu	37	16	1502845	1502845	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:1502845C>T	uc002clv.2	-	15	1374	c.1264G>A	c.(1264-1266)GCC>ACC	p.A422T	CLCN7_uc002clw.2_Missense_Mutation_p.A398T	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	422	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				GCCGTGACGGCGGCCACCAGC	0.672												
TSC2	7249	broad.mit.edu	37	16	2122296	2122296	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:2122296C>T	uc002con.2	+	20	2258	c.2152C>T	c.(2152-2154)CGC>TGC	p.R718C	TSC2_uc010bsd.2_Missense_Mutation_p.R718C|TSC2_uc002coo.2_Missense_Mutation_p.R718C|TSC2_uc010uvv.1_Missense_Mutation_p.R681C|TSC2_uc010uvw.1_Missense_Mutation_p.R669C|TSC2_uc002cop.2_Missense_Mutation_p.R518C	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	718					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)				TGAGTCCCTGCGCTATAAAGT	0.612			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
TRAF7	84231	broad.mit.edu	37	16	2218083	2218083	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:2218083G>A	uc002cow.2	+	4	244	c.145G>A	c.(145-147)GGG>AGG	p.G49R		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	49					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						TGCAGCTGACGGGACCAGCAC	0.667												
MLST8	64223	broad.mit.edu	37	16	2258236	2258236	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:2258236C>T	uc002coz.2	+	7	718	c.599C>T	c.(598-600)ACG>ATG	p.T200M	MLST8_uc002coy.2_Missense_Mutation_p.T200M|MLST8_uc002cpa.2_Missense_Mutation_p.T16M|MLST8_uc002cpb.2_Missense_Mutation_p.T199M|MLST8_uc010uvx.1_Missense_Mutation_p.T134M|MLST8_uc002cpc.2_Missense_Mutation_p.T200M|MLST8_uc002cpd.2_Missense_Mutation_p.T134M|MLST8_uc002cpe.2_Missense_Mutation_p.T200M|MLST8_uc002cpg.2_Missense_Mutation_p.T219M|MLST8_uc002cph.2_Intron|MLST8_uc002cpf.2_Missense_Mutation_p.T200M	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	200	WD 5.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0						TGGAATCTGACGGGGGGCATT	0.632												
ABCA3	21	broad.mit.edu	37	16	2333309	2333309	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:2333309G>A	uc002cpy.1	-	26	4625	c.3913C>T	c.(3913-3915)CGG>TGG	p.R1305W	ABCA3_uc010bsk.1_Missense_Mutation_p.R1247W	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1305					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GCCACAAACCGGCCGACCCCC	0.657												
NTN3	4917	broad.mit.edu	37	16	2522140	2522140	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:2522140G>A	uc002cqj.2	+	1	641	c.438G>A	c.(436-438)CCG>CCA	p.P146P		NM_006181	NP_006172	O00634	NET3_HUMAN	netrin 3 precursor	146	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				central_nervous_system(1)	1						GCTGGGCCCCGCTGGGCTTCT	0.672												
FLYWCH1	84256	broad.mit.edu	37	16	2987367	2987367	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:2987367G>A	uc002csd.2	+	7	2122	c.1759G>A	c.(1759-1761)GCG>ACG	p.A587T	FLYWCH1_uc002csb.2_Missense_Mutation_p.A586T|FLYWCH1_uc002csc.2_Missense_Mutation_p.A586T|FLYWCH1_uc010bsv.2_Missense_Mutation_p.A311T|FLYWCH1_uc002cse.2_Missense_Mutation_p.A42T	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	587						nucleus	DNA binding|metal ion binding				0						CCCCAACCTGGCGCAGTGGGA	0.731												
MEFV	4210	broad.mit.edu	37	16	3304219	3304219	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:3304219C>T	uc002cun.1	-	2	889	c.849G>A	c.(847-849)CCG>CCA	p.P283P		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	283					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6					Colchicine(DB01394)	CCCCTCCATCCGGAGTGGGCC	0.448												
ZNF174	7727	broad.mit.edu	37	16	3458468	3458468	+	Missense_Mutation	SNP	G	G	A	rs144498218	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:3458468G>A	uc002cvc.2	+	3	1588	c.773G>A	c.(772-774)CGG>CAG	p.R258Q		NM_003450	NP_003441	Q15697	ZN174_HUMAN	zinc finger protein 174 isoform a	258					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						AGTGAACCTCGGTTGTCACGG	0.522												
CREBBP	1387	broad.mit.edu	37	16	3781384	3781384	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:3781384T>C	uc002cvv.2	-	30	5185	c.4981A>G	c.(4981-4983)ATG>GTG	p.M1661V	CREBBP_uc002cvw.2_Missense_Mutation_p.M1623V	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1661	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGCCCATCCATGAGGTCACAG	0.637			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
CORO7	79585	broad.mit.edu	37	16	4390324	4390324	+	Missense_Mutation	SNP	G	G	A	rs148571756		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:4390324G>A	uc002cwf.2	-	31	3586	c.3143C>T	c.(3142-3144)ACG>ATG	p.T1048M	CORO7_uc002cwe.2_RNA|TIMM16_uc002cwd.2_Missense_Mutation_p.T125M	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	Error:Variant_position_missing_in_P57737_after_alignment						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						GAGCAGTCACGTATGGGGCAT	0.532												
UBN1	29855	broad.mit.edu	37	16	4911085	4911085	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:4911085C>T	uc002cyb.2	+	7	1431	c.1092C>T	c.(1090-1092)CGC>CGT	p.R364R	UBN1_uc010uxw.1_Silent_p.R364R|UBN1_uc002cyc.2_Silent_p.R364R	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	364					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						TGGAGAAGCGCGTTAAGGAGC	0.577												
GRIN2A	2903	broad.mit.edu	37	16	9858518	9858518	+	Silent	SNP	G	G	A	rs77705198	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:9858518G>A	uc002czo.3	-	13	3431	c.2883C>T	c.(2881-2883)AAC>AAT	p.N961N	GRIN2A_uc010uym.1_Silent_p.N961N|GRIN2A_uc010uyn.1_Silent_p.N804N|GRIN2A_uc002czr.3_Silent_p.N961N	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	961	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTTGGAGTTCGTTCATGTTGT	0.438												
MKL2	57496	broad.mit.edu	37	16	14341272	14341272	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:14341272A>G	uc010uza.1	+	12	2310	c.2155A>G	c.(2155-2157)ACC>GCC	p.T719A	MKL2_uc002dcg.2_Intron|MKL2_uc002dcj.2_5'UTR	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	708	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						GGCTTTACTGACCACGCAGAC	0.592												
GPRC5B	51704	broad.mit.edu	37	16	19883215	19883215	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:19883215G>A	uc002dgt.2	-	2	1061	c.953C>T	c.(952-954)ACG>ATG	p.T318M	GPRC5B_uc010vav.1_Missense_Mutation_p.T344M	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	318	Cytoplasmic (Potential).									lung(1)|breast(1)|skin(1)	3						CTCGAAGGCCGTCTCCCGCAT	0.607												
GPRC5B	51704	broad.mit.edu	37	16	19883779	19883779	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:19883779C>T	uc002dgt.2	-	2	497	c.389G>A	c.(388-390)GGC>GAC	p.G130D	GPRC5B_uc010vav.1_Missense_Mutation_p.G156D	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	130	Helical; Name=3; (Potential).									lung(1)|breast(1)|skin(1)	3						AAAGAGGACGCCCCAGAGGAA	0.662												
ANKS4B	257629	broad.mit.edu	37	16	21261128	21261128	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:21261128G>A	uc010bwp.1	+	2	284	c.241G>A	c.(241-243)GTC>ATC	p.V81I	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	81	ANK 2.									ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)		TGCCCACTGCGTCTCATTCCT	0.498												
COG7	91949	broad.mit.edu	37	16	23430031	23430031	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:23430031G>A	uc002dlo.2	-	8	1315	c.1127C>T	c.(1126-1128)GCT>GTT	p.A376V		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	376					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)		CAGAGGCACAGCACTCATCTG	0.557												
TNRC6A	27327	broad.mit.edu	37	16	24834864	24834864	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:24834864C>T	uc002dmm.2	+	25	5739	c.5625C>T	c.(5623-5625)CTC>CTT	p.L1875L	TNRC6A_uc010bxs.2_Silent_p.L1622L|TNRC6A_uc002dmn.2_Silent_p.L1573L|TNRC6A_uc002dmo.2_Silent_p.L1514L|TNRC6A_uc002dmr.2_Silent_p.L74L	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1875	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		GGCAGTCTCTCGGGTCCAGCC	0.567												
ZKSCAN2	342357	broad.mit.edu	37	16	25268437	25268437	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:25268437G>A	uc002dod.3	-	1	419	c.12C>T	c.(10-12)GCC>GCT	p.A4A	ZKSCAN2_uc010vcl.1_5'UTR|ZKSCAN2_uc002doe.2_Silent_p.A4A	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	4					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		GAGAGTCGAGGGCGACAGCCA	0.567											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IL21R	50615	broad.mit.edu	37	16	27455956	27455956	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:27455956C>T	uc002doq.1	+	6	834	c.601C>T	c.(601-603)CGG>TGG	p.R201W	IL21R_uc002dor.1_Missense_Mutation_p.R201W|IL21R_uc002dos.1_Missense_Mutation_p.R201W	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	201	Extracellular (Potential).|Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						GCTGCAGGTGCGGGCAGGGCC	0.597			T	BCL6	NHL							
APOB48R	55911	broad.mit.edu	37	16	28507089	28507089	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:28507089G>T	uc002dqb.1	+	2	737	c.727G>T	c.(727-729)GGG>TGG	p.G243W	uc010vct.1_Intron|APOB48R_uc010byg.1_Intron	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	243	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						TGGGGCCGAAGGGGCTGGGAA	0.662												
ATXN2L	11273	broad.mit.edu	37	16	28844506	28844506	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:28844506G>A	uc002drc.2	+	14	1954	c.1786G>A	c.(1786-1788)GTC>ATC	p.V596I	uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.V572I|ATXN2L_uc002drb.2_Missense_Mutation_p.V596I|ATXN2L_uc002dqy.2_Missense_Mutation_p.V596I|ATXN2L_uc002dra.2_Missense_Mutation_p.V596I|ATXN2L_uc002dqz.2_Missense_Mutation_p.V596I|ATXN2L_uc010vdb.1_Missense_Mutation_p.V602I|ATXN2L_uc002dre.2_Missense_Mutation_p.V596I|ATXN2L_uc002drf.2_Missense_Mutation_p.V5I|ATXN2L_uc002drg.2_5'Flank	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	596						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GGGGTCTCCCGTCTCCTCCAA	0.577												
QPRT	23475	broad.mit.edu	37	16	29708624	29708624	+	Silent	SNP	G	G	A	rs113611997		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:29708624G>A	uc002dto.2	+	4	864	c.786G>A	c.(784-786)CCG>CCA	p.P262P	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.1_RNA	NM_014298	NP_055113	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	262					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity				0					Niacin(DB00627)	TCTGCGGGCCGCACATAGACG	0.627												
ASPHD1	253982	broad.mit.edu	37	16	29912905	29912905	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:29912905G>A	uc002dut.2	+	1	759	c.613G>A	c.(613-615)GCC>ACC	p.A205T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	205	Lumenal (Potential).				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity				0						GCCGCGGGACGCCCAGCGGCA	0.667												
TAOK2	9344	broad.mit.edu	37	16	29997869	29997869	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:29997869C>A	uc002dva.1	+	16	3059	c.2276C>A	c.(2275-2277)CCT>CAT	p.P759H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.P766H|TAOK2_uc002dvd.1_Missense_Mutation_p.P586H	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	759					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						CTCCCCATTCCTGGGGCTCTG	0.647												
PPP4C	5531	broad.mit.edu	37	16	30096043	30096043	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:30096043G>A	uc002dwe.2	+	8	805	c.661G>A	c.(661-663)GTG>ATG	p.V221M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Missense_Mutation_p.V221M|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Missense_Mutation_p.V142M	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	221					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1						TGGCAGTGACGTGGTGGCCCA	0.582												
TBX6	6911	broad.mit.edu	37	16	30097591	30097591	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:30097591G>A	uc010veh.1	-	9	1326	c.1266C>T	c.(1264-1266)ACC>ACT	p.T422T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004608	NP_004599	O95947	TBX6_HUMAN	T-box 6	422					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CCCCAGGCGCGGTGTATGGTA	0.667												
SETD1A	9739	broad.mit.edu	37	16	30977128	30977128	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:30977128G>A	uc002ead.1	+	8	2612	c.1926G>A	c.(1924-1926)CCG>CCA	p.P642P		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	642	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						ATGGGCCGCCGCCCCCTGAGT	0.557												
PYDC1	260434	broad.mit.edu	37	16	31228252	31228252	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:31228252C>T	uc002ebo.2	-	1	147	c.98G>A	c.(97-99)CGC>CAC	p.R33H	TRIM72_uc002ebn.1_Intron	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	pyrin domain containing 1	33	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding				0						AAAGCCCTCGCGCAGCGGCAC	0.637												
ITGAM	3684	broad.mit.edu	37	16	31342529	31342529	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:31342529C>T	uc002ebq.2	+	29	3418	c.3320C>T	c.(3319-3321)CCG>CTG	p.P1107L	ITGAM_uc002ebr.2_Missense_Mutation_p.P1108L|ITGAM_uc010can.2_Missense_Mutation_p.P513L	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	1107	Helical; (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						AACCCCCTGCCGCTCATCGTG	0.682												
PHKB	5257	broad.mit.edu	37	16	47674948	47674948	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:47674948C>T	uc002eev.3	+	15	1513	c.1461C>T	c.(1459-1461)GGC>GGT	p.G487G	PHKB_uc002eeu.3_Silent_p.G480G	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	487					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CATTACAGGGCCCACTGGAAA	0.378												
CBLN1	869	broad.mit.edu	37	16	49315263	49315263	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:49315263G>A	uc002efq.2	-	1	453	c.114C>T	c.(112-114)TGC>TGT	p.C38C		NM_004352	NP_004343	P23435	CBLN1_HUMAN	cerebellin 1 precursor	38					nervous system development|synaptic transmission	cell junction|extracellular region|synapse					0		all_cancers(37;0.0766)|all_lung(18;0.24)				GGTTGGAGTCGCACACCACCA	0.692												
SALL1	6299	broad.mit.edu	37	16	51173541	51173541	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:51173541A>G	uc010vgs.1	-	2	2623	c.2592T>C	c.(2590-2592)GCT>GCC	p.A864A	SALL1_uc010vgr.1_Silent_p.A767A|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	864					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)			TTTCCAAAGCAGCGATGCTCG	0.552												
KIFC3	3801	broad.mit.edu	37	16	57794956	57794956	+	Missense_Mutation	SNP	G	G	A	rs150459486	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:57794956G>A	uc002emp.2	-	15	2197	c.2000C>T	c.(1999-2001)ACG>ATG	p.T667M	KIFC3_uc010vhw.1_Missense_Mutation_p.T565M|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.T528M|KIFC3_uc010vhx.1_Missense_Mutation_p.T525M|KIFC3_uc010cdf.2_Missense_Mutation_p.T528M|KIFC3_uc002emo.3_Missense_Mutation_p.T528M|KIFC3_uc010vhy.1_Missense_Mutation_p.T609M|KIFC3_uc002emq.2_Missense_Mutation_p.T667M|KIFC3_uc010vhz.1_Missense_Mutation_p.T689M	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	667	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				ACTCTCACCCGTGGTGCGGAG	0.667												
KIFC3	3801	broad.mit.edu	37	16	57828936	57828936	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:57828936G>A	uc002emp.2	-	3	487	c.290C>T	c.(289-291)CCC>CTC	p.P97L	KIFC3_uc010cdf.2_5'UTR|KIFC3_uc002emo.3_5'UTR|KIFC3_uc010vhy.1_5'UTR|KIFC3_uc002emq.2_Missense_Mutation_p.P97L|KIFC3_uc010vhz.1_Missense_Mutation_p.P119L|KIFC3_uc002emr.1_Intron|KIFC3_uc010cdg.1_Intron	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	97					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				GAGCCCGTGGGGGCTTCCGGG	0.667												
CDH11	1009	broad.mit.edu	37	16	64984700	64984700	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:64984700C>T	uc002eoi.2	-	12	2298	c.1864G>A	c.(1864-1866)GCC>ACC	p.A622T	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.A622T|CDH11_uc010vin.1_Missense_Mutation_p.A496T	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	622	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCGAGGATGGCGATCAGGGCG	0.622			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
CES8	283848	broad.mit.edu	37	16	67037006	67037006	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:67037006C>T	uc002eqv.2	+	6	767	c.724C>T	c.(724-726)CGG>TGG	p.R242W	CES8_uc010vix.1_Missense_Mutation_p.R242W|CES8_uc002eqw.2_Missense_Mutation_p.R242W|CES8_uc002eqy.2_Missense_Mutation_p.R144W|CES8_uc002eqx.2_Missense_Mutation_p.R48W|CES8_uc010viy.1_Missense_Mutation_p.R148W|CES8_uc010viz.1_Missense_Mutation_p.R144W|CES8_uc002eqz.2_5'Flank	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	242						extracellular region	carboxylesterase activity				0						TCTCTTCCATCGGGCCATTTC	0.552												
EXOC3L	283849	broad.mit.edu	37	16	67222722	67222722	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:67222722A>G	uc002erx.1	-	4	570	c.329T>C	c.(328-330)ATG>ACG	p.M110T	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Intron|EXOC3L_uc010vje.1_Intron	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	110	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		GGCCTGGGACATGCCCTGGAG	0.672												
TMEM208	29100	broad.mit.edu	37	16	67262891	67262891	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:67262891G>A	uc002esi.2	+	6	503	c.397G>A	c.(397-399)GCC>ACC	p.A133T	LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN	HSPC171 protein	133						integral to membrane					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TCCAGGCCGGGCCCTTTACCT	0.592												
SLC9A5	6553	broad.mit.edu	37	16	67293845	67293845	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:67293845G>A	uc002esm.2	+	12	1901	c.1838G>A	c.(1837-1839)CGT>CAT	p.R613H	SLC9A5_uc010cee.2_Missense_Mutation_p.R318H|SLC9A5_uc010vji.1_Missense_Mutation_p.R117H|uc002esn.1_5'Flank	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	613					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AAGCCGCGCCGTAGGGTGAGA	0.587												
ATP6V0D1	9114	broad.mit.edu	37	16	67477083	67477083	+	Splice_Site	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:67477083T>G	uc002ete.1	-	4	582	c.482_splice	c.e4-1	p.A161_splice	ATP6V0D1_uc010vjo.1_Splice_Site_p.A202_splice|ATP6V0D1_uc010vjn.1_Splice_Site_p.A84_splice	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		AAAAAGCCGCTGGGGAGGAAA	0.557												
ATP6V0D1	9114	broad.mit.edu	37	16	67478439	67478439	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:67478439G>A	uc002ete.1	-	3	573	c.473C>T	c.(472-474)ACG>ATG	p.T158M	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.T199M|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.T81M	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	158					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		ACCAAGAGGCGTGTCCACCAG	0.622												
HAS3	3038	broad.mit.edu	37	16	69148385	69148385	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:69148385G>C	uc010cfh.2	+	4	1102	c.878G>C	c.(877-879)AGC>ACC	p.S293T	HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Missense_Mutation_p.S293T	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	293	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TACCGCAACAGCCTCCTCCAG	0.597												
NFAT5	10725	broad.mit.edu	37	16	69727392	69727392	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:69727392C>T	uc002exm.1	+	12	4818	c.3610C>T	c.(3610-3612)CCG>TCG	p.P1204S	NFAT5_uc002exi.2_Missense_Mutation_p.P1128S|NFAT5_uc002exj.1_Missense_Mutation_p.P1128S|NFAT5_uc002exk.1_Missense_Mutation_p.P1128S|NFAT5_uc002exl.1_Missense_Mutation_p.P1222S|NFAT5_uc002exn.1_Missense_Mutation_p.P1221S|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1204					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GGCACAACCCCCGCAGCAGGG	0.507												
DDX19B	11269	broad.mit.edu	37	16	70359496	70359496	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:70359496C>T	uc002eyo.2	+	7	641	c.512C>T	c.(511-513)ACG>ATG	p.T171M	DDX19B_uc010vly.1_Missense_Mutation_p.T171M|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Missense_Mutation_p.T145M|DDX19B_uc010vlw.1_Missense_Mutation_p.T62M|DDX19B_uc002eyp.2_Missense_Mutation_p.T140M|DDX19B_uc002eyq.2_Missense_Mutation_p.T62M|DDX19B_uc002eyr.2_Missense_Mutation_p.T20M|DDX19B_uc010vlx.1_Missense_Mutation_p.T20M|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	171	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				CTCTCCCCAACGTATGAGCTC	0.428												
VAC14	55697	broad.mit.edu	37	16	70765531	70765531	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:70765531C>A	uc002ezm.2	-	14	1787	c.1529_splice	c.e14-1	p.G510_splice	VAC14_uc010cfw.2_Splice_Site_p.G276_splice|VAC14_uc002ezn.2_Splice_Site_p.G75_splice|VAC14_uc002ezl.2_5'Flank|VAC14_uc010cfx.1_Splice_Site	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog						interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)|skin(1)	2		Ovarian(137;0.0699)				CCTTTGGTACCTGTAGAGAAA	0.388												
WDR59	79726	broad.mit.edu	37	16	74908338	74908338	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:74908338G>A	uc002fdh.1	-	26	2796	c.2694C>T	c.(2692-2694)TTC>TTT	p.F898F	WDR59_uc002fdf.1_Silent_p.F343F|WDR59_uc002fdg.1_Silent_p.F490F	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	898										ovary(1)|breast(1)	2						AGTACACGCCGAACTCTGGAA	0.557												
MAF	4094	broad.mit.edu	37	16	79632973	79632973	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:79632973C>T	uc002ffn.2	-	1	1650	c.827G>A	c.(826-828)CGG>CAG	p.R276Q	MAF_uc002ffm.2_Missense_Mutation_p.R276Q	NM_001031804	NP_001026974	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	276	Represses ARE-mediated transcription.				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GCGCAGCTGCCGGTTCAGCTC	0.657			T	IGH@	MM							
CMIP	80790	broad.mit.edu	37	16	81641248	81641248	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:81641248C>T	uc002fgp.2	+	2	449	c.377C>T	c.(376-378)CCG>CTG	p.P126L	CMIP_uc002fgq.1_Missense_Mutation_p.P32L|CMIP_uc010vnq.1_5'Flank	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	92	PH.					cytoplasm|nucleus					0						GAGAATGCCCCGAAGTACTGT	0.463												
ATP2C2	9914	broad.mit.edu	37	16	84494363	84494363	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:84494363G>A	uc002fhx.2	+	24	2526	c.2437G>A	c.(2437-2439)GCG>ACG	p.A813T	ATP2C2_uc010chj.2_Missense_Mutation_p.A842T|ATP2C2_uc002fhy.2_Missense_Mutation_p.A830T|ATP2C2_uc002fhz.2_Missense_Mutation_p.A662T|ATP2C2_uc002fia.2_Missense_Mutation_p.A124T	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	813	Helical; Name=7; (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						CCTCATGTCCGCGGCCATCAT	0.622												
KIAA1609	57707	broad.mit.edu	37	16	84520283	84520283	+	Silent	SNP	G	G	A	rs145452661	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:84520283G>A	uc002fib.2	-	5	1019	c.912C>T	c.(910-912)TTC>TTT	p.F304F	KIAA1609_uc010vod.1_Silent_p.F277F|KIAA1609_uc002fic.2_RNA	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	hypothetical protein LOC57707	304	TLD.						protein binding			ovary(2)	2						CAAACCCACCGAACACATGCT	0.572												
KIAA0182	23199	broad.mit.edu	37	16	85701857	85701857	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:85701857G>T	uc002fix.2	+	14	3316	c.3242G>T	c.(3241-3243)GGG>GTG	p.G1081V	KIAA0182_uc002fiw.2_Missense_Mutation_p.G977V|KIAA0182_uc002fiy.2_Missense_Mutation_p.G1008V|KIAA0182_uc002fiz.2_Missense_Mutation_p.G223V|KIAA0182_uc010cho.2_Missense_Mutation_p.G261V	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	1081							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						CAGCACAATGGGCAGCAGGAG	0.512												
ZC3H18	124245	broad.mit.edu	37	16	88666260	88666260	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:88666260C>T	uc002fky.2	+	6	1192	c.992C>T	c.(991-993)ACG>ATG	p.T331M	ZC3H18_uc010voy.1_Missense_Mutation_p.T214M|ZC3H18_uc010voz.1_Missense_Mutation_p.T355M	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	331						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AAAAGGTTTACGGTGACCATT	0.388												
CTU2	348180	broad.mit.edu	37	16	88781638	88781638	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:88781638C>T	uc002flm.2	+	15	1575	c.1527C>T	c.(1525-1527)GAC>GAT	p.D509D	CTU2_uc002fln.2_3'UTR|CTU2_uc010chz.2_Silent_p.D580D|CTU2_uc010cia.2_Silent_p.D422D|FAM38A_uc002flo.3_3'UTR|FAM38A_uc002flp.3_3'UTR|FAM38A_uc002flq.3_3'UTR|FAM38A_uc002flr.3_3'UTR|FAM38A_uc010cib.2_3'UTR|FAM38A_uc010vpb.1_3'UTR	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	cytoplasmic tRNA 2-thiolation protein 2 isoform	509					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			skin(1)	1						AGGACAGTGACGACGAGGCGG	0.667												
CDT1	81620	broad.mit.edu	37	16	88872228	88872228	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:88872228C>T	uc002flu.2	+	5	837	c.783C>T	c.(781-783)GGC>GGT	p.G261G		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	261					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		TCAAGGATGGCACCAGGAGGT	0.597												
CDH15	1013	broad.mit.edu	37	16	89245841	89245841	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:89245841G>T	uc002fmt.2	+	2	137	c.60G>T	c.(58-60)TTG>TTT	p.L20F	CDH15_uc010cij.1_Missense_Mutation_p.L20F	NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	20					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCCTGTCTTTGGGGGTTCCTG	0.687												
CDH15	1013	broad.mit.edu	37	16	89254627	89254627	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:89254627C>T	uc002fmt.2	+	7	989	c.912C>T	c.(910-912)GAC>GAT	p.D304D		NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	304	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGGAAGGCGACCCCGATGGGC	0.652												
CPNE7	27132	broad.mit.edu	37	16	89661933	89661933	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:89661933C>T	uc002fnp.2	+	16	1816	c.1686C>T	c.(1684-1686)GAC>GAT	p.D562D	CPNE7_uc002fnq.2_Silent_p.D487D	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	562	VWFA.				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)		ACGGCGACGACGGCGTCCTGC	0.672												
ABR	29	broad.mit.edu	37	17	910465	910465	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:910465C>A	uc002fsd.2	-	22	2540	c.2430G>T	c.(2428-2430)GTG>GTT	p.V810V	ABR_uc002fse.2_Silent_p.V764V|ABR_uc010vqf.1_Silent_p.V261V|ABR_uc010vqg.1_Silent_p.V592V|ABR_uc002fsg.2_Silent_p.V773V|ABR_uc002fsf.2_Silent_p.V347V	NM_021962	NP_068781	Q12979	ABR_HUMAN	active breakpoint cluster region-related	810	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTTTGCTCTCCACTTCTGAGG	0.597												
INPP5K	51763	broad.mit.edu	37	17	1410361	1410361	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:1410361T>C	uc002fsr.2	-	7	1078	c.689A>G	c.(688-690)GAC>GGC	p.D230G	INPP5K_uc002fss.2_Missense_Mutation_p.D154G|INPP5K_uc002fsq.2_Missense_Mutation_p.D154G|INPP5K_uc010cjr.2_Missense_Mutation_p.D154G|INPP5K_uc010vql.1_Missense_Mutation_p.D138G|INPP5K_uc010vqm.1_Missense_Mutation_p.D134G	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K isoform	230	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding				0						GAGCAGCGGGTCATGTTTCTT	0.562												
PRPF8	10594	broad.mit.edu	37	17	1579520	1579520	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:1579520G>A	uc002fte.2	-	17	2647	c.2533C>T	c.(2533-2535)CGG>TGG	p.R845W		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	845						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)		TCCTTGAGCCGCTCCAATGCC	0.517												
RTN4RL1	146760	broad.mit.edu	37	17	1840254	1840254	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:1840254G>A	uc002ftp.2	-	2	881	c.862C>T	c.(862-864)CGG>TGG	p.R288W		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	288	LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity				0						TGGCCGTGCCGCAGCCCAGGG	0.677												
ITGAE	3682	broad.mit.edu	37	17	3651342	3651342	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:3651342G>A	uc002fwo.3	-	17	2128	c.2029C>T	c.(2029-2031)CGG>TGG	p.R677W		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	677	FG-GAP 7.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACCACAGGCCGGGAGCTAAAC	0.493												
SMTNL2	342527	broad.mit.edu	37	17	4510676	4510676	+	Missense_Mutation	SNP	G	G	A	rs141427435		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:4510676G>A	uc002fyf.1	+	8	1347	c.1280G>A	c.(1279-1281)CGC>CAC	p.R427H	SMTNL2_uc002fye.2_Missense_Mutation_p.R283H	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	427	CH.										0				READ - Rectum adenocarcinoma(115;0.0325)		AACTGTGAGCGCCTCATCGAA	0.617												
PELP1	27043	broad.mit.edu	37	17	4594216	4594216	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:4594216C>T	uc002fyi.3	-	3	613	c.387G>A	c.(385-387)GTG>GTA	p.V129V	PELP1_uc010vsf.1_5'UTR	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	129					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GAAGCCAAGACACACAGTGCT	0.532												
ZNF594	84622	broad.mit.edu	37	17	5085407	5085407	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:5085407T>C	uc010cla.1	-	2	2301	c.2145A>G	c.(2143-2145)AAA>AAG	p.K715K		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	715	C2H2-type 22.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						ACATGAAGAGTTTCCCACATT	0.468												
BCL6B	255877	broad.mit.edu	37	17	6927490	6927490	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:6927490G>A	uc002geg.2	+	3	325	c.268G>A	c.(268-270)GCC>ACC	p.A90T	BCL6B_uc010clt.1_Missense_Mutation_p.A90T	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	90	BTB.					nucleus	zinc ion binding			skin(1)	1						GAGAGGCTTCGCCCCTCTATT	0.612												
NEURL4	84461	broad.mit.edu	37	17	7227488	7227488	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:7227488G>A	uc002gga.1	-	11	2008	c.2001C>T	c.(1999-2001)GGC>GGT	p.G667G	NEURL4_uc002ggb.1_Silent_p.G667G|NEURL4_uc002ggc.1_Silent_p.G13G	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	667	NHR 3.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CAGCATAGACGCCCGGGGGCA	0.677											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TP53	7157	broad.mit.edu	37	17	7579313	7579313	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:7579313G>A	uc002gim.2	-	4	568	c.374C>T	c.(373-375)ACG>ATG	p.T125M	TP53_uc002gig.1_Missense_Mutation_p.T125M|TP53_uc002gih.2_Missense_Mutation_p.T125M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.T125M|TP53_uc010cni.1_Missense_Mutation_p.T125M|TP53_uc002gij.2_Missense_Mutation_p.T125M|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.T86M|TP53_uc010cnk.1_Missense_Mutation_p.T140M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	125	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125R(3)|p.T125K(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.T125P(1)|p.T125fs*45(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T125_Y126insX(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAACTGACCGTGCAAGTCAC	0.542		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
ALOX15B	247	broad.mit.edu	37	17	7942761	7942761	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:7942761G>A	uc002gju.2	+	2	321	c.205G>A	c.(205-207)GTG>ATG	p.V69M	ALOX15B_uc002gjv.2_Missense_Mutation_p.V69M|ALOX15B_uc002gjw.2_Missense_Mutation_p.V69M|ALOX15B_uc010vun.1_Missense_Mutation_p.V69M|ALOX15B_uc010cnp.2_Translation_Start_Site	NM_001141	NP_001132	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, second type	69	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			ovary(1)	1						GCTGCTGCGCGTGCACAAGGC	0.706												
ALOX12B	242	broad.mit.edu	37	17	7976517	7976517	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:7976517C>T	uc002gjy.1	-	14	2136	c.1875G>A	c.(1873-1875)ACG>ACA	p.T625T		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	625	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						GCGTGATGCACGTGGTCTTCA	0.617										Multiple Myeloma(8;0.094)		
ARHGEF15	22899	broad.mit.edu	37	17	8222917	8222917	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:8222917T>C	uc002glc.2	+	15	2491	c.2370T>C	c.(2368-2370)CCT>CCC	p.P790P	ARHGEF15_uc002gld.2_Silent_p.P790P|ARHGEF15_uc010vuw.1_Silent_p.P679P	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	790					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						ACAAGACCCCTGAAGGTGAGA	0.333												
GAS7	8522	broad.mit.edu	37	17	9873070	9873070	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:9873070T>C	uc002gmg.1	-	4	556	c.395A>G	c.(394-396)TAC>TGC	p.Y132C	GAS7_uc010vvd.1_Missense_Mutation_p.Y84C|GAS7_uc002gmi.2_Missense_Mutation_p.Y68C|GAS7_uc002gmj.1_Missense_Mutation_p.Y72C|GAS7_uc010coh.1_Missense_Mutation_p.Y72C	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	132					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						TGATGCGTGGTATCCATTCAC	0.607			T	MLL	AML*							
DNAH9	1770	broad.mit.edu	37	17	11840771	11840771	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:11840771A>G	uc002gne.2	+	66	12660	c.12592A>G	c.(12592-12594)ACT>GCT	p.T4198A	DNAH9_uc010coo.2_Missense_Mutation_p.T3416A|DNAH9_uc002gnf.2_Missense_Mutation_p.T510A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	4198					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)		GCTCTTCCGCACTGTGCTGGA	0.607												
SREBF1	6720	broad.mit.edu	37	17	17720296	17720296	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:17720296C>G	uc002gru.1	-	9	1955	c.1761G>C	c.(1759-1761)AAG>AAC	p.K587N	SREBF1_uc002grp.1_Missense_Mutation_p.K206N|SREBF1_uc002grq.1_Missense_Mutation_p.K106N|SREBF1_uc002grr.1_Missense_Mutation_p.K333N|SREBF1_uc002grs.1_Missense_Mutation_p.K563N|SREBF1_uc002grt.1_Missense_Mutation_p.K617N	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	587	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GGTCAGCCTGCTTGCGATGCC	0.652												
TOM1L2	146691	broad.mit.edu	37	17	17754260	17754260	+	Missense_Mutation	SNP	C	C	T	rs150784633	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:17754260C>T	uc002grz.3	-	13	1442	c.1285G>A	c.(1285-1287)GTT>ATT	p.V429I	TOM1L2_uc002gry.3_Missense_Mutation_p.V379I|TOM1L2_uc010vwy.1_Missense_Mutation_p.V405I|TOM1L2_uc010cpr.2_Missense_Mutation_p.V384I|TOM1L2_uc010vwz.1_Missense_Mutation_p.V310I|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc002grv.3_Missense_Mutation_p.V162I	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	429					intracellular protein transport	intracellular					0	all_neural(463;0.228)					GGCTGCGCAACGGGGATCTAT	0.587												
MYO15A	51168	broad.mit.edu	37	17	18054563	18054563	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:18054563C>T	uc010vxh.1	+	38	7951	c.7613C>T	c.(7612-7614)GCT>GTT	p.A2538V	MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2538	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					AAGCCTGTGGCTGCCCCTGTT	0.642												
LLGL1	3996	broad.mit.edu	37	17	18145266	18145266	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:18145266G>T	uc002gsp.2	+	19	2896	c.2835G>T	c.(2833-2835)CCG>CCT	p.P945P		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	945				P -> G (in Ref. 1; CAA60130).	cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					TCACAGAGCCGCTCTGCTCTC	0.592												
MFAP4	4239	broad.mit.edu	37	17	19287914	19287914	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:19287914C>T	uc002gvt.2	-	6	654	c.629G>A	c.(628-630)CGC>CAC	p.R210H	uc010vyt.1_5'Flank|MFAP4_uc002gvr.2_RNA|MFAP4_uc002gvs.2_Missense_Mutation_p.R234H	NM_002404	NP_002395	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4 precursor	210	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding				0	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GTGGCAGCTGCGGAACCAGAA	0.567												
KCNJ12	3768	broad.mit.edu	37	17	21319768	21319768	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:21319768G>A	uc002gyv.1	+	3	1819	c.1114G>A	c.(1114-1116)GCC>ACC	p.A372T		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	372	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	GCTGCCCAGCGCCAACTCCTT	0.612										Prostate(3;0.18)		
NOS2	4843	broad.mit.edu	37	17	26106007	26106007	+	Silent	SNP	G	G	A	rs140983392	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:26106007G>A	uc002gzu.2	-	10	1344	c.1080C>T	c.(1078-1080)GGC>GGT	p.G360G	NOS2_uc010crh.1_Silent_p.G360G|NOS2_uc010wab.1_Silent_p.G360G	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	360					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ACTCCAGGCCGCCCACCTCAA	0.567												
SLC46A1	113235	broad.mit.edu	37	17	26731940	26731940	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:26731940C>T	uc002hbf.1	-	2	871	c.775G>A	c.(775-777)GCC>ACC	p.A259T	SLC46A1_uc002hbg.1_Missense_Mutation_p.A259T|SLC46A1_uc010wak.1_Missense_Mutation_p.A259T	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	259					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	TTCTCTGGGGCGGGAGCCACA	0.532												
SEZ6	124925	broad.mit.edu	37	17	27284384	27284384	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:27284384G>A	uc002hdp.2	-	12	2670	c.2476C>T	c.(2476-2478)CGG>TGG	p.R826W	SEZ6_uc010crx.1_Missense_Mutation_p.R21W|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.R826W|SEZ6_uc002hdq.1_Missense_Mutation_p.R701W	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	seizure related 6 homolog isoform 1	826	Extracellular (Potential).|Sushi 4.					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)			TTAGGGGCCCGGTCACTCCAC	0.562												
TAOK1	57551	broad.mit.edu	37	17	27837956	27837956	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:27837956T>C	uc002hdz.1	+	15	1844	c.1650T>C	c.(1648-1650)AGT>AGC	p.S550S	TAOK1_uc010wbe.1_Silent_p.S550S|TAOK1_uc010wbf.1_Silent_p.S550S|TAOK1_uc002heb.1_Silent_p.S376S	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	550	Potential.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			AACTGAATAGTTTTCTCGAGT	0.323												
NF1	4763	broad.mit.edu	37	17	29552151	29552151	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:29552151C>T	uc002hgg.2	+	17	2217	c.1884C>T	c.(1882-1884)TAC>TAT	p.Y628Y	NF1_uc002hgh.2_Silent_p.Y628Y|NF1_uc010csn.1_Silent_p.Y488Y|NF1_uc002hgi.1_Translation_Start_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	628					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)|p.G629fs*5(1)|p.Y628fs*3(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTTTTTTACGGGGTAGGAT	0.398			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
SUZ12	23512	broad.mit.edu	37	17	30322710	30322710	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:30322710C>T	uc002hgs.2	+	14	1945	c.1723C>T	c.(1723-1725)CGT>TGT	p.R575C	SUZ12_uc002hgt.2_Missense_Mutation_p.R552C	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	joined to JAZF1	575	VEFS-box.				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTTACCTCTCCGTCCACAAGA	0.358			T	JAZF1	endometrial stromal tumours							
GGNBP2	79893	broad.mit.edu	37	17	34934411	34934411	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:34934411A>G	uc002hnb.2	+	7	891	c.642_splice	c.e7-2	p.R214_splice	GGNBP2_uc002hna.2_Splice_Site_p.R214_splice|GGNBP2_uc002hnc.1_Missense_Mutation_p.R43G	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403						cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TCTTTTCAACAGGTTTTGCAC	0.383												
HNF1B	6928	broad.mit.edu	37	17	36099531	36099531	+	Silent	SNP	C	C	T	rs147218489		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:36099531C>T	uc002hok.3	-	2	665	c.444G>A	c.(442-444)TCG>TCA	p.S148S	HNF1B_uc010wdi.1_Silent_p.S148S	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	148			S -> W (in RCAD).|S -> L (in RCAD).		endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGGAGAGGTGCGACTGGTTCA	0.567									Hereditary_Prostate_Cancer			
MLLT6	4302	broad.mit.edu	37	17	36872882	36872882	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:36872882G>A	uc002hqi.3	+	10	1312	c.1299G>A	c.(1297-1299)ACG>ACA	p.T433T	MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	433					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CCCACGTCACGGGGTCTGGGG	0.662			T	MLL	AL							
KRT16	3868	broad.mit.edu	37	17	39767710	39767710	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:39767710C>T	uc002hxg.3	-	3	797	c.658G>A	c.(658-660)GTC>ATC	p.V220I	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	220	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				AGGCCATTGACGTCGGCCTCC	0.627												
KRT17	3872	broad.mit.edu	37	17	39777909	39777909	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:39777909C>T	uc002hxh.2	-	4	891	c.770G>A	c.(769-771)CGT>CAT	p.R257H	JUP_uc010wfs.1_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	257	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				ATACTGGTCACGCATCTCGTT	0.597									Steatocystoma_Multiplex			
KAT2A	2648	broad.mit.edu	37	17	40272728	40272728	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:40272728G>T	uc002hyx.2	-	2	519	c.459C>A	c.(457-459)CCC>CCA	p.P153P	HSPB9_uc002hyy.2_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	153					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						CCTTACCCAAGGGGTGCTCAC	0.592												
BRCA1	672	broad.mit.edu	37	17	41244889	41244889	+	Missense_Mutation	SNP	C	C	T	rs80357541		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:41244889C>T	uc002icq.2	-	10	2891	c.2659G>A	c.(2659-2661)GCC>ACC	p.A887T	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.A816T|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.A840T|BRCA1_uc002ict.2_Missense_Mutation_p.A887T|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.A887T|BRCA1_uc002ide.1_Missense_Mutation_p.A718T|BRCA1_uc010cyy.1_Missense_Mutation_p.A887T|BRCA1_uc010whs.1_Missense_Mutation_p.A887T|BRCA1_uc010cyz.2_Missense_Mutation_p.A840T|BRCA1_uc010cza.2_Missense_Mutation_p.A861T|BRCA1_uc010wht.1_Missense_Mutation_p.A591T	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	887					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCAGAGTGGGCAGAGAATGTT	0.393			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)		
ATXN7L3	56970	broad.mit.edu	37	17	42272803	42272803	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:42272803C>T	uc002iga.2	-	8	696	c.605G>A	c.(604-606)CGC>CAC	p.R202H	ATXN7L3_uc010wiv.1_5'UTR|ATXN7L3_uc002ifz.2_Missense_Mutation_p.R209H	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	202	SCA7.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TAGCAGGCTGCGAAGCTCCTC	0.577												
C1QL1	10882	broad.mit.edu	37	17	43037709	43037709	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:43037709G>A	uc002ihv.2	-	2	852	c.624C>T	c.(622-624)GAC>GAT	p.D208D		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	208	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				TCTGGTCCGCGTCCTGGGCAA	0.483												
CRHR1	1394	broad.mit.edu	37	17	43907907	43907907	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:43907907G>A	uc010dap.2	+	8	1032	c.767G>A	c.(766-768)CGC>CAC	p.R256H	CRHR1_uc010wjx.1_Missense_Mutation_p.R52H|CRHR1_uc002ijp.2_Missense_Mutation_p.R126H|CRHR1_uc002ijm.2_Missense_Mutation_p.R227H|CRHR1_uc002ijn.2_Missense_Mutation_p.R187H|CRHR1_uc010dar.2_Missense_Mutation_p.R227H|CRHR1_uc010dao.2_Missense_Mutation_p.R126H|CRHR1_uc010daq.2_Missense_Mutation_p.R52H	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	256	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GACCGGCTGCGCAAATGGATG	0.622												
NFE2L1	4779	broad.mit.edu	37	17	46136685	46136685	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:46136685G>A	uc002imz.3	+	6	2652	c.2001G>A	c.(1999-2001)GCG>GCA	p.A667A	NFE2L1_uc002ina.3_Silent_p.A637A|NFE2L1_uc002inb.3_Silent_p.A637A|NFE2L1_uc010wle.1_Silent_p.A479A|NFE2L1_uc010wlf.1_Silent_p.A511A	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	667	Basic motif.				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1						ACAAGATGGCGGCGCAGAACT	0.592												
HOXB5	3215	broad.mit.edu	37	17	46670721	46670721	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:46670721G>A	uc002inr.2	-	1	383	c.324C>T	c.(322-324)CAC>CAT	p.H108H		NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	108						nucleus	sequence-specific DNA binding				0						GCTTGGCGCCGTGGCTGTCGC	0.701												
HOXB6	3216	broad.mit.edu	37	17	46673804	46673804	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:46673804C>T	uc002ins.1	-	4	971	c.646G>A	c.(646-648)GAG>AAG	p.E216K	HOXB5_uc002inr.2_5'Flank|HOXB6_uc010dbh.1_Missense_Mutation_p.E216K|HOXB6_uc002int.1_3'UTR	NM_018952	NP_061825	P17509	HXB6_HUMAN	homeobox B6	216	Poly-Glu.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCCTCCTCCTCGGCACTGAGC	0.597												
NGFR	4804	broad.mit.edu	37	17	47583740	47583740	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:47583740G>A	uc002ioz.3	+	3	413	c.288G>A	c.(286-288)TCG>TCA	p.S96S		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	96	Extracellular (Potential).|TNFR-Cys 2.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					AGAGCATGTCGGCGCCGTGCG	0.706												
EPN3	55040	broad.mit.edu	37	17	48613990	48613990	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:48613990C>T	uc002ira.3	+	2	508	c.73C>T	c.(73-75)CGC>TGC	p.R25C	EPN3_uc010wms.1_Intron|EPN3_uc010wmt.1_Intron|EPN3_uc010wmu.1_Missense_Mutation_p.R25C	NM_017957	NP_060427	Q9H201	EPN3_HUMAN	epsin 3	25	ENTH.	Phosphatidylinositol lipid headgroup (By similarity).				clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			ovary(1)	1	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AATCAAGGTGCGCGAGGCCAC	0.612												
ABCC3	8714	broad.mit.edu	37	17	48742598	48742598	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:48742598G>A	uc002isl.2	+	11	1503	c.1423G>A	c.(1423-1425)GCC>ACC	p.A475T	ABCC3_uc002isk.3_Missense_Mutation_p.A475T	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	475	ABC transmembrane type-1 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GAAGATGCGCGCCTTCCAGGT	0.622												
MRC2	9902	broad.mit.edu	37	17	60768086	60768086	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:60768086C>T	uc002jad.2	+	27	4378	c.3976C>T	c.(3976-3978)CGG>TGG	p.R1326W	MRC2_uc002jae.2_Missense_Mutation_p.R397W|MRC2_uc002jaf.2_Missense_Mutation_p.R192W	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1326	Extracellular (Potential).|C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GGGCCAGAGTCGGGGCGCCTG	0.607												
MAP3K3	4215	broad.mit.edu	37	17	61744392	61744392	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:61744392C>T	uc002jbg.2	+	6	793	c.474C>T	c.(472-474)CCC>CCT	p.P158P	MAP3K3_uc002jbe.2_Silent_p.P189P|MAP3K3_uc002jbf.2_Silent_p.P189P|MAP3K3_uc002jbh.2_Silent_p.P189P|MAP3K3_uc010wpo.1_Silent_p.P73P|MAP3K3_uc010wpp.1_Silent_p.P158P	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	158					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						ACCAGCCCCCCGAGCCCAGAA	0.483												
KPNA2	3838	broad.mit.edu	37	17	66033572	66033572	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:66033572T>C	uc002jgk.2	+	3	306	c.174T>C	c.(172-174)GAT>GAC	p.D58D	KPNA2_uc002jgl.2_Silent_p.D58D	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	58	IBB.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CATTTCCTGATGATGCTACTT	0.423												
PRKAR1A	5573	broad.mit.edu	37	17	66511558	66511558	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:66511558C>T	uc002jhg.2	+	2	198	c.18C>T	c.(16-18)ACC>ACT	p.T6T	PRKAR1A_uc002jhh.2_Silent_p.T6T|PRKAR1A_uc002jhi.2_Silent_p.T6T|PRKAR1A_uc002jhj.2_Silent_p.T6T|PRKAR1A_uc002jhk.2_5'UTR|PRKAR1A_uc002jhl.2_Silent_p.T6T|PRKAR1A_uc002jhm.2_Silent_p.T6T	NM_212471	NP_997636	P10644	KAP0_HUMAN	cAMP-dependent protein kinase, regulatory	6	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1)	12	Breast(10;1.64e-13)					CTGGCAGTACCGCCGCCAGTG	0.448			T|Mis|N|F|S	RET	papillary thyroid	myxoma|endocrine|papillary thyroid			Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of			
KCNJ16	3773	broad.mit.edu	37	17	68128882	68128882	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:68128882C>T	uc002jin.2	+	5	1140	c.654C>T	c.(652-654)GCC>GCT	p.A218A	KCNJ16_uc002jio.2_Silent_p.A218A|KCNJ16_uc002jip.2_Silent_p.A218A|KCNJ16_uc002jiq.2_Silent_p.A250A	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	218	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					CAGTTAGAGCCCAACTTCTCC	0.473												
HN1	51155	broad.mit.edu	37	17	73144758	73144758	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:73144758C>T	uc002jna.1	-	2	348	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	HN1_uc002jmz.1_5'UTR|HN1_uc002jnb.1_Missense_Mutation_p.R22Q|HN1_uc010dgc.1_RNA|HN1_uc002jnc.2_RNA|HN1_uc002jnd.2_Missense_Mutation_p.R22Q	NM_016185	NP_057269	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	22						nucleus					0	all_lung(278;0.14)|Lung NSC(278;0.168)					ACCTGGAGGCCGCAAAACTCT	0.388												
LLGL2	3993	broad.mit.edu	37	17	73565191	73565191	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:73565191C>T	uc002joh.2	+	13	1609	c.1455C>T	c.(1453-1455)GAC>GAT	p.D485D	LLGL2_uc002joi.2_Silent_p.D485D|LLGL2_uc010dgg.1_Silent_p.D485D|LLGL2_uc002joj.2_Silent_p.D474D|LLGL2_uc010wsd.1_Silent_p.D112D	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	485					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGGCGAGGACGAGTGGCCCC	0.677												
ACOX1	51	broad.mit.edu	37	17	73945316	73945316	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:73945316G>A	uc002jqf.2	-	12	2000	c.1710C>T	c.(1708-1710)AAC>AAT	p.N570N	ACOX1_uc010wsq.1_Silent_p.N532N|ACOX1_uc002jqe.2_Silent_p.N570N|ACOX1_uc010wsr.1_Silent_p.N502N	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	570					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1						AATCCCCCGCGTTCTGACTGA	0.299												
ST6GALNAC2	10610	broad.mit.edu	37	17	74562348	74562348	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:74562348A>G	uc002jsg.3	-	9	1218	c.963T>C	c.(961-963)AGT>AGC	p.S321S		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	sialyltransferase 7B	321	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity				0						ATCCATAGGCACTGACCTGGG	0.433												
TBC1D16	125058	broad.mit.edu	37	17	77926601	77926601	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:77926601C>T	uc002jxj.2	-	4	912	c.796G>A	c.(796-798)GAC>AAC	p.D266N	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	266						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)			AGGCCGGCGTCGGAGCTGGAC	0.672												
RPTOR	57521	broad.mit.edu	37	17	78865536	78865536	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:78865536T>C	uc002jyt.1	+	18	2805	c.2000T>C	c.(1999-2001)CTG>CCG	p.L667P	RPTOR_uc010wug.1_Missense_Mutation_p.L509P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	667					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						GTGGTGGCTCTGAGTCATCTT	0.512												
CHMP6	79643	broad.mit.edu	37	17	78971112	78971112	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:78971112A>G	uc002jyw.3	+	6	544	c.466A>G	c.(466-468)ATC>GTC	p.I156V		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	chromatin modifying protein 6	156					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			ovary(1)	1	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGAAGACGCCATCCTGGAGGA	0.632												
CCDC137	339230	broad.mit.edu	37	17	79637353	79637353	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:79637353G>A	uc002kbc.3	+	3	403	c.367G>A	c.(367-369)GGG>AGG	p.G123R	CCDC137_uc002kbd.2_RNA	NM_199287	NP_954981	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	123										central_nervous_system(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGAGTCTGACGGGGCCTATAT	0.587												
DYSFIP1	116729	broad.mit.edu	37	17	79792774	79792774	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:79792774C>T	uc002kbj.1	-	1	153	c.56G>A	c.(55-57)CGG>CAG	p.R19Q	FAM195B_uc010wuy.1_5'Flank|FAM195B_uc010wuz.1_5'Flank|FAM195B_uc002kjd.2_5'Flank|DYSFIP1_uc002kbk.1_Missense_Mutation_p.R19Q	NM_001007533	NP_001007534	Q86WC6	DYSI1_HUMAN	dysferlin-interacting protein 1	19	Poly-Arg.										0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.00858)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			AGCCAGCATCCGCCGCCGCCG	0.652												
EPB41L3	23136	broad.mit.edu	37	18	5419778	5419778	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:5419778C>T	uc002kmt.1	-	12	1524	c.1438G>A	c.(1438-1440)GAG>AAG	p.E480K	EPB41L3_uc010wzh.1_Missense_Mutation_p.E498K|EPB41L3_uc002kmu.1_Missense_Mutation_p.E498K|EPB41L3_uc010dkq.1_Missense_Mutation_p.E389K|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.E59K	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	480	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						tcctcttcctcgtcccgctcc	0.388												
TMEM200C	645369	broad.mit.edu	37	18	5891517	5891517	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:5891517G>A	uc002kmx.1	-	1	587	c.546C>T	c.(544-546)TGC>TGT	p.C182C		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	182	Helical; (Potential).					integral to membrane					0						CCGCGTTTGCGCAGATGAAGA	0.577												
KIAA0802	23255	broad.mit.edu	37	18	8825914	8825914	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:8825914G>A	uc002knr.2	+	15	4548	c.4406G>A	c.(4405-4407)CGG>CAG	p.R1469Q	KIAA0802_uc002knq.2_Missense_Mutation_p.R1428Q|KIAA0802_uc002kns.2_Missense_Mutation_p.R809Q	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1779											0						GCCGGCAGTCGGTCTCGCTCA	0.637												
OSBPL1A	114876	broad.mit.edu	37	18	21759794	21759794	+	Silent	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:21759794T>G	uc002kve.2	-	20	1992	c.1818A>C	c.(1816-1818)GTA>GTC	p.V606V	OSBPL1A_uc002kvd.2_Silent_p.V93V|OSBPL1A_uc010xbc.1_Silent_p.V224V	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	606					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CAAACGCAGCTACACACTGTG	0.468												
TAF4B	6875	broad.mit.edu	37	18	23866046	23866046	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:23866046G>A	uc002kvu.3	+	7	1662	c.1173G>A	c.(1171-1173)GTG>GTA	p.V391V	TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Silent_p.V391V	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding	391					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)|skin(1)	3	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CCAGAACTGTGTCAGTGCAAA	0.478												
FAM59A	64762	broad.mit.edu	37	18	29867794	29867794	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:29867794G>A	uc002kxl.2	-	4	822	c.766C>T	c.(766-768)CCG>TCG	p.P256S	FAM59A_uc002kxk.1_Missense_Mutation_p.P256S	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	256	CABIT.									ovary(1)|skin(1)	2						GGGTTTCTCGGTGGAGGGCTT	0.537												
ALPK2	115701	broad.mit.edu	37	18	56149219	56149219	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:56149219C>A	uc002lhj.3	-	13	6563	c.6349G>T	c.(6349-6351)GCA>TCA	p.A2117S		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	2117	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						TGGTGTAGTGCTTTAAACTGA	0.408												
NETO1	81832	broad.mit.edu	37	18	70534535	70534535	+	Translation_Start_Site	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:70534535G>A	uc002lkw.2	-	1	276	c.-8C>T	c.(-10--6)AACGC>AATGC		NETO1_uc002lkx.1_5'Flank|NETO1_uc002lky.1_Translation_Start_Site|NETO1_uc002lkz.2_5'Flank	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGTCTGTGCGTTACACCAGA	0.642												
ZNF516	9658	broad.mit.edu	37	18	74153912	74153912	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:74153912C>T	uc010dqx.1	-	2	1334	c.1099G>A	c.(1099-1101)GCC>ACC	p.A367T	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	367					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)		TCGGCCGGGGCGCGCGTGCGG	0.682												
SALL3	27164	broad.mit.edu	37	18	76754898	76754898	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:76754898G>T	uc002lmt.2	+	2	2907	c.2907G>T	c.(2905-2907)AGG>AGT	p.R969S	SALL3_uc010dra.2_Missense_Mutation_p.R576S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	969					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)		TCCTGAGCAGGGAGCGGGGTA	0.468												
KCNG2	26251	broad.mit.edu	37	18	77623823	77623823	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:77623823C>T	uc010xfl.1	+	1	156	c.156C>T	c.(154-156)CAC>CAT	p.H52H		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	52	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCCGCGGCCACGACGACCTGC	0.721												
POLRMT	5442	broad.mit.edu	37	19	629547	629547	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:629547G>A	uc002lpf.1	-	3	871	c.815C>T	c.(814-816)GCG>GTG	p.A272V		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	272					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTGCCGCGCCCAGCCAAG	0.647												
FGF22	27006	broad.mit.edu	37	19	643437	643437	+	Missense_Mutation	SNP	C	C	T	rs141882459		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:643437C>T	uc010xfq.1	+	3	346	c.346C>T	c.(346-348)CGG>TGG	p.R116W	FGF22_uc010xfr.1_Missense_Mutation_p.P108L	NM_020637	NP_065688	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22 precursor	116					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCAGGTTCCGGGAGCGCAT	0.697												
ARID3A	1820	broad.mit.edu	37	19	966745	966745	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:966745C>A	uc002lql.2	+	7	1662	c.1372C>A	c.(1372-1374)CCT>ACT	p.P458T		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	458	Important for nuclear localization (By similarity).|REKLES.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		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)		GTCTGCAGAGCCTCCGGAGAA	0.652												
SBNO2	22904	broad.mit.edu	37	19	1147381	1147381	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:1147381G>T	uc002lrk.3	-	4	444	c.206C>A	c.(205-207)CCC>CAC	p.P69H	SBNO2_uc010dse.2_Missense_Mutation_p.P62H	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	69					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GTCTGGGCAGGGCTGGCTGCC	0.667												
ATP8B3	148229	broad.mit.edu	37	19	1796868	1796868	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:1796868T>C	uc002ltw.2	-	16	1829	c.1595A>G	c.(1594-1596)TAC>TGC	p.Y532C	ATP8B3_uc002ltv.2_Missense_Mutation_p.Y485C|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	532	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCCAGAGGTAGGGGTTCTC	0.721												
CSNK1G2	1455	broad.mit.edu	37	19	1969862	1969862	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:1969862C>T	uc002lul.3	+	3	614	c.91C>T	c.(91-93)CGG>TGG	p.R31W	CSNK1G2_uc010dsu.2_5'UTR	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	31					sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|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)		CCACGGCATCCGGAGCTCGGG	0.642												
CSNK1G2	1455	broad.mit.edu	37	19	1979021	1979021	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:1979021T>C	uc002lul.3	+	7	1134	c.611T>C	c.(610-612)ATC>ACC	p.I204T	CSNK1G2_uc010dsu.2_Missense_Mutation_p.I156T	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	204	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|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)		AAGAAGCACATCCCGTACCGC	0.567												
CSNK1G2	1455	broad.mit.edu	37	19	1979024	1979024	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:1979024C>T	uc002lul.3	+	7	1137	c.614C>T	c.(613-615)CCG>CTG	p.P205L	CSNK1G2_uc010dsu.2_Missense_Mutation_p.P157L	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	205	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|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)		AAGCACATCCCGTACCGCGAG	0.562												
AP3D1	8943	broad.mit.edu	37	19	2132534	2132534	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:2132534G>A	uc002luz.2	-	5	621	c.398C>T	c.(397-399)ACG>ATG	p.T133M	AP3D1_uc002luy.2_Missense_Mutation_p.T133M|AP3D1_uc002lva.2_Missense_Mutation_p.T133M	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	133					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACAGACCCGTCAGTGCAAC	0.597												
ZFR2	23217	broad.mit.edu	37	19	3819148	3819148	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:3819148G>A	uc002lyw.2	-	12	1838	c.1826C>T	c.(1825-1827)GCC>GTC	p.A609V		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	609						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCTCTGCACGGCCAGGAGCTC	0.716												
MAP2K2	5605	broad.mit.edu	37	19	4099243	4099243	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:4099243T>C	uc002lzk.2	-	7	1129	c.875A>G	c.(874-876)CAC>CGC	p.H292R	MAP2K2_uc002lzj.2_Missense_Mutation_p.H102R	NM_030662	NP_109587	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	292	Protein kinase.|Pro-rich.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGATGCTGTGAGGCTCTCC	0.711									Cardiofaciocutaneous_syndrome			
CHAF1A	10036	broad.mit.edu	37	19	4409665	4409665	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:4409665C>T	uc002mal.2	+	3	969	c.869C>T	c.(868-870)CCC>CTC	p.P290L		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	290	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGCTCTCCCTCTTCCACC	0.617								Chromatin_Structure				
UBXN6	80700	broad.mit.edu	37	19	4446179	4446179	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:4446179C>T	uc002man.1	-	10	1163	c.1067G>A	c.(1066-1068)CGG>CAG	p.R356Q	UBXN6_uc010dty.1_Missense_Mutation_p.R260Q|UBXN6_uc002mam.1_Missense_Mutation_p.R303Q	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	356	UBX.					microtubule organizing center|nucleus	protein binding				0						CAGCCGCTCCCGAGCGTAGAA	0.706												
DPP9	91039	broad.mit.edu	37	19	4690888	4690888	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:4690888A>G	uc002mba.2	-	14	1854	c.1596_splice	c.e14+1	p.K532_splice		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9						proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		AGACCCTGGTACCTTGGAGCC	0.373												
UHRF1	29128	broad.mit.edu	37	19	4944449	4944449	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:4944449G>A	uc002mbo.2	+	9	1460	c.1292G>A	c.(1291-1293)CGG>CAG	p.R431Q	UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.R444Q	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	431	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ACCATGTGGCGGTTCCGAGTC	0.667												
KDM4B	23030	broad.mit.edu	37	19	5144079	5144079	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:5144079C>T	uc002mbq.3	+	19	2878	c.2652C>T	c.(2650-2652)CAC>CAT	p.H884H	KDM4B_uc010xim.1_Silent_p.H918H|KDM4B_uc002mbr.3_Silent_p.H642H	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	884	PHD-type 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CCTGCGCCCACGCCGCAGGCG	0.632												
ZNRF4	148066	broad.mit.edu	37	19	5456241	5456241	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:5456241G>T	uc002mca.3	+	1	816	c.739G>T	c.(739-741)GGC>TGC	p.G247C		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	247	Extracellular (Potential).					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCACGACCTGGGCTGTCACCC	0.682												
PRR22	163154	broad.mit.edu	37	19	5784080	5784080	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:5784080G>A	uc002mdb.1	-	1	531	c.172C>T	c.(172-174)CGC>TGC	p.R58C	PRR22_uc010xiv.1_Intron	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	58											0						GGCGGCAGGCGGGTGCCCTGA	0.672												
GTF2F1	2962	broad.mit.edu	37	19	6380339	6380339	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:6380339C>T	uc002meq.2	-	13	1792	c.1507G>A	c.(1507-1509)GAG>AAG	p.E503K	GTF2F1_uc010xjb.1_Missense_Mutation_p.E324K|GTF2F1_uc010xjc.1_Missense_Mutation_p.E418K	NM_002096	NP_002087	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1,	503					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding				0						ATCTTGCGCTCGGGGTTGAGT	0.542												
SNAPC2	6618	broad.mit.edu	37	19	7987602	7987602	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:7987602C>A	uc002miw.1	+	5	981	c.958C>A	c.(958-960)CTG>ATG	p.L320M	SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex,	320					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0						GAACCCGTTCCTGGTGCCCCT	0.692												
CD320	51293	broad.mit.edu	37	19	8367418	8367418	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:8367418G>A	uc002mjj.1	-	5	843	c.778C>T	c.(778-780)CGC>TGC	p.R260C	CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Missense_Mutation_p.R218C	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	8D6 antigen isoform 1 precursor	260	Cytoplasmic (Potential).				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity				0						CCCAGTGGGCGGAGGCGCTCC	0.617												
ACTL9	284382	broad.mit.edu	37	19	8808575	8808575	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:8808575G>A	uc002mkl.2	-	1	598	c.477C>T	c.(475-477)CGC>CGT	p.R159R		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	159						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						CTAGCTTCTCGCGGTTGGTGG	0.667												
MUC16	94025	broad.mit.edu	37	19	8999422	8999422	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:8999422T>C	uc002mkp.2	-	56	40957	c.40753A>G	c.(40753-40755)ACC>GCC	p.T13585A	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T402A|MUC16_uc010xki.1_RNA	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						CTGTCCAGGGTGTAGGGGCCC	0.572												
MUC16	94025	broad.mit.edu	37	19	9062137	9062137	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:9062137G>A	uc002mkp.2	-	3	25513	c.25309C>T	c.(25309-25311)CTT>TTT	p.L8437F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8439	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACTTCAGAAAGGACAGTGCTT	0.522												
ZNF562	54811	broad.mit.edu	37	19	9763880	9763880	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:9763880T>C	uc010xks.1	-	6	1189	c.1026A>G	c.(1024-1026)AAA>AAG	p.K342K	ZNF562_uc002mly.2_Silent_p.K342K|ZNF562_uc002mlx.2_Silent_p.K270K|ZNF562_uc010xkt.1_Silent_p.K305K|ZNF562_uc010xku.1_Silent_p.K273K|ZNF562_uc010xkv.1_Silent_p.K341K|ZNF562_uc010xkw.1_Silent_p.K226K	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATTCATAGGGTTTTATTCCAG	0.428												
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220919	10220919	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:10220919C>T	uc002mna.2	+	8	819	c.819C>T	c.(817-819)ACC>ACT	p.T273T	PPAN-P2RY11_uc010xla.1_Silent_p.T273T|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Silent_p.T273T|PPAN_uc002mnb.1_Silent_p.T220T	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	273	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGCGGCTCACCGAGGTGAGGC	0.687												
DNM2	1785	broad.mit.edu	37	19	10906072	10906072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:10906072C>T	uc002mps.1	+	9	1317	c.1153C>T	c.(1153-1155)CGA>TGA	p.R385*	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Nonsense_Mutation_p.R385*|DNM2_uc002mpv.1_Nonsense_Mutation_p.R385*|DNM2_uc002mpu.1_Nonsense_Mutation_p.R385*|DNM2_uc010dxl.1_Nonsense_Mutation_p.R385*|DNM2_uc002mpw.2_Nonsense_Mutation_p.R118*	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	385					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)			GAAGGACTTACGACGGGAGAT	0.577												
CCDC151	115948	broad.mit.edu	37	19	11531506	11531506	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:11531506G>T	uc002mrs.2	-	13	1928	c.1785C>A	c.(1783-1785)TCC>TCA	p.S595S	CCDC151_uc002mrr.2_Silent_p.S530S|CCDC151_uc010dxz.2_Silent_p.S535S|RGL3_uc002mrn.2_5'Flank|RGL3_uc002mrm.2_5'Flank|RGL3_uc002mro.2_5'Flank|RGL3_uc002mrp.2_5'Flank|RGL3_uc002mrq.2_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	595										ovary(1)	1						GACGAGTCTAGGACCTCCGAG	0.637												
TNPO2	30000	broad.mit.edu	37	19	12812592	12812592	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:12812592C>T	uc002muo.2	-	22	2670	c.2485G>A	c.(2485-2487)GGT>AGT	p.G829S	TNPO2_uc002mup.2_Missense_Mutation_p.G911S|TNPO2_uc002muq.2_Missense_Mutation_p.G819S|TNPO2_uc002mur.2_Missense_Mutation_p.G819S	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	829					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GGGTTGACACCGATCATCATG	0.667												
MAST1	22983	broad.mit.edu	37	19	12985260	12985260	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:12985260G>A	uc002mvm.2	+	26	4417	c.4289G>A	c.(4288-4290)GGC>GAC	p.G1430D		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1430					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						GGCGAGGCGGGCACACCCCTG	0.706												
NACC1	112939	broad.mit.edu	37	19	13249068	13249068	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:13249068A>G	uc002mwm.2	+	6	1600	c.1432A>G	c.(1432-1434)AAG>GAG	p.K478E		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	478					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						CTGGATGCCCAAGGTCAAGGT	0.597												
ZSWIM4	65249	broad.mit.edu	37	19	13941204	13941204	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:13941204C>T	uc002mxh.1	+	13	2499	c.2310C>T	c.(2308-2310)TGC>TGT	p.C770C	ZSWIM4_uc010xng.1_Silent_p.C693C	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	770							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTCAGAACTGCGCCTTGCCTG	0.701												
ILVBL	10994	broad.mit.edu	37	19	15226969	15226969	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:15226969C>T	uc002nam.2	-	12	1586	c.1465G>A	c.(1465-1467)GAT>AAT	p.D489N	ILVBL_uc010xof.1_Missense_Mutation_p.D130N|ILVBL_uc010dzw.2_Missense_Mutation_p.D382N	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	489	Thiamine pyrophosphate binding (By similarity).					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						TTACCAGGATCGAGCCAGCGC	0.642												
NOTCH3	4854	broad.mit.edu	37	19	15281358	15281358	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:15281358G>A	uc002nan.2	-	27	4974	c.4898C>T	c.(4897-4899)CCG>CTG	p.P1633L		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1633	Extracellular (Potential).				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)			AGGCTCCAGCGGCTCCCCTAA	0.716												
WIZ	58525	broad.mit.edu	37	19	15533994	15533994	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:15533994G>A	uc002nbc.2	-	8	2823	c.2800C>T	c.(2800-2802)CGG>TGG	p.R934W	WIZ_uc002nba.3_Missense_Mutation_p.R801W|WIZ_uc002nbb.3_Missense_Mutation_p.R760W	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1617	C2H2-type 11.					nucleus	zinc ion binding				0						TGTAAGTGCCGCACCCACTCT	0.637												
PGLYRP2	114770	broad.mit.edu	37	19	15586525	15586525	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:15586525C>T	uc002nbf.3	-	2	1089	c.956G>A	c.(955-957)CGA>CAA	p.R319Q	PGLYRP2_uc002nbg.3_Missense_Mutation_p.R319Q	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	319					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						GTTCTGCCGTCGGAAGTTGCT	0.637												
CYP4F22	126410	broad.mit.edu	37	19	15661545	15661545	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:15661545G>A	uc002nbh.3	+	13	1563	c.1396G>A	c.(1396-1398)GTG>ATG	p.V466M		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	466						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						ACTGGCCTATGTGCCCTTCTC	0.587												
ANO8	57719	broad.mit.edu	37	19	17442127	17442127	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:17442127G>A	uc002ngf.2	-	6	839	c.680C>T	c.(679-681)GCC>GTC	p.A227V	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	227	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						TTCACACACGGCCTGCACCCA	0.632												
FAM129C	199786	broad.mit.edu	37	19	17664122	17664122	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:17664122C>T	uc010xpr.1	+	16	1982	c.1844C>T	c.(1843-1845)GCT>GTT	p.A615V	GLT25D1_uc002nhc.1_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	615											0						TGTTTCCTAGCTCCAAATCTT	0.398												
PIK3R2	5296	broad.mit.edu	37	19	18278091	18278091	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:18278091C>T	uc002nia.1	+	13	2223	c.1711C>T	c.(1711-1713)CGC>TGC	p.R571C	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	571					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						CATGCAGCTGCGCAAGATCCG	0.622												
UPF1	5976	broad.mit.edu	37	19	18967816	18967816	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:18967816T>C	uc002nkg.2	+	14	2263	c.1988T>C	c.(1987-1989)CTC>CCC	p.L663P	UPF1_uc002nkf.2_Missense_Mutation_p.L652P|UPF1_uc002nkh.2_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	663					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CCCGTGGTCCTCGGGGCCAAG	0.577												
GMIP	51291	broad.mit.edu	37	19	19744697	19744697	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:19744697T>C	uc002nnd.2	-	19	2504	c.2387A>G	c.(2386-2388)CAG>CGG	p.Q796R	GMIP_uc010xrb.1_Missense_Mutation_p.Q770R|GMIP_uc010xrc.1_Missense_Mutation_p.Q767R	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	796	Pro-rich.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						gactgggggctgggagtctgg	0.219												
ATP13A1	57130	broad.mit.edu	37	19	19765378	19765378	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:19765378G>A	uc002nnh.3	-	13	1815	c.1787C>T	c.(1786-1788)ACG>ATG	p.T596M	ATP13A1_uc002nne.2_5'Flank|ATP13A1_uc002nnf.3_Translation_Start_Site|ATP13A1_uc002nng.2_Missense_Mutation_p.T478M	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	596	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						GTCCACGGCCGTCAGCATGGC	0.667												
ZNF714	148206	broad.mit.edu	37	19	21300088	21300088	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:21300088C>T	uc002npo.3	+	6	981	c.621C>T	c.(619-621)GGC>GGT	p.G207G	ZNF714_uc002npl.2_Silent_p.G52G|ZNF714_uc010ecp.1_Silent_p.G158G|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	207	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGAATGTGGCAAAGCTTTTA	0.403												
ZNF257	113835	broad.mit.edu	37	19	22255611	22255611	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:22255611G>A	uc010ecx.2	+	2	173	c.4G>A	c.(4-6)GGA>AGA	p.G2R	ZNF257_uc010ecy.2_5'UTR	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTTTTTCAGGGACCACTGAC	0.413												
ZNF676	163223	broad.mit.edu	37	19	22363522	22363522	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:22363522C>T	uc002nqs.1	-	3	1315	c.997G>A	c.(997-999)GGA>AGA	p.G333R		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGTTTCTCTCCAGCATGAATT	0.403												
POP4	10775	broad.mit.edu	37	19	30106265	30106265	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:30106265C>T	uc002nsf.2	+	7	697	c.641C>T	c.(640-642)GCG>GTG	p.A214V	POP4_uc002nsg.2_Missense_Mutation_p.A133V	NM_006627	NP_006618	O95707	RPP29_HUMAN	processing of precursor 4	214					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AAGTTCAAAGCGAAGGGAACG	0.323												
MAG	4099	broad.mit.edu	37	19	35786696	35786696	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:35786696C>T	uc002nyy.1	+	4	376	c.227C>T	c.(226-228)TCG>TTG	p.S76L	MAG_uc002nyx.1_Missense_Mutation_p.S76L|MAG_uc010eds.1_Missense_Mutation_p.S51L|MAG_uc002nyz.1_Missense_Mutation_p.S76L	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	76	Ig-like V-type.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCTTCAAGTCGCGCACCCAA	0.642												
ATP4A	495	broad.mit.edu	37	19	36053496	36053496	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:36053496C>A	uc002oal.1	-	4	290	c.261G>T	c.(259-261)GGG>GGT	p.G87G		NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	87	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GTGCGTTGGGCCCATCCCGCA	0.706												
APLP1	333	broad.mit.edu	37	19	36370038	36370038	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:36370038C>T	uc002oce.2	+	16	1911	c.1773C>T	c.(1771-1773)GGC>GGT	p.G591G	APLP1_uc010xsz.1_Silent_p.G552G|APLP1_uc002ocf.2_Silent_p.G592G|APLP1_uc002ocg.2_Silent_p.G495G|APLP1_uc010xta.1_Silent_p.G585G	NM_005166	NP_005157	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 2	591	Helical; (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGAGCGGGCGGAGGCTCCC	0.642												
HCST	10870	broad.mit.edu	37	19	36394742	36394742	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:36394742G>A	uc002ocl.1	+	3	292	c.178G>A	c.(178-180)GCA>ACA	p.A60T	HCST_uc002ock.1_Missense_Mutation_p.A60T	NM_014266	NP_055081	Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer isoform 1	60	Helical; (Potential).				regulation of immune response	integral to membrane|plasma membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGATGCGGTGGCATCGCTGCT	0.682												
ZNF260	339324	broad.mit.edu	37	19	37006132	37006132	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:37006132G>A	uc002oee.1	-	4	853	c.9C>T	c.(7-9)GGC>GGT	p.G3G	ZNF260_uc002oed.1_5'UTR|ZNF260_uc010eey.1_5'UTR|ZNF260_uc002oef.1_5'UTR	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	3					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)					TTTCCAACATGCCTATCATGC	0.333												
ZNF790	388536	broad.mit.edu	37	19	37310583	37310583	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:37310583A>G	uc002oew.2	-	5	782	c.663T>C	c.(661-663)ACT>ACC	p.T221T	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTTTCTTAACAGTGTGAACTG	0.343												
DPF1	8193	broad.mit.edu	37	19	38704286	38704286	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:38704286C>T	uc002ohl.2	-	9	985	c.958G>A	c.(958-960)GAC>AAC	p.D320N	DPF1_uc002ohm.2_Missense_Mutation_p.D364N|DPF1_uc002ohn.2_Missense_Mutation_p.D282N|DPF1_uc010xtu.1_Missense_Mutation_p.D338N|DPF1_uc010xtv.1_Missense_Mutation_p.D338N	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	320	PHD-type 2.				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCACTCACGTCGTTCTCGGAG	0.652												
RYR1	6261	broad.mit.edu	37	19	38987106	38987106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:38987106C>T	uc002oit.2	+	41	6851	c.6721C>T	c.(6721-6723)CGA>TGA	p.R2241*	RYR1_uc002oiu.2_Nonsense_Mutation_p.R2241*|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2241	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATTTCTGCCGAATCAGCCG	0.632												
CAPN12	147968	broad.mit.edu	37	19	39221758	39221758	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:39221758G>A	uc002ojd.1	-	19	2372	c.2063C>T	c.(2062-2064)ACC>ATC	p.T688I	CAPN12_uc010egd.1_Missense_Mutation_p.T49I|CAPN12_uc002ojc.1_Missense_Mutation_p.T142I	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	688	Domain IV.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GAAGATGCAGGTGAGGTGGGC	0.647												
CAPN12	147968	broad.mit.edu	37	19	39229238	39229238	+	Silent	SNP	C	C	T	rs148191501	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:39229238C>T	uc002ojd.1	-	6	1089	c.780G>A	c.(778-780)GCG>GCA	p.A260A	CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	260	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGATGGAATACGCGTGTCCCT	0.627												
PSMC4	5704	broad.mit.edu	37	19	40485978	40485978	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:40485978C>T	uc002omq.2	+	8	880	c.843C>T	c.(841-843)GCC>GCT	p.A281A	PSMC4_uc002omr.2_Silent_p.A250A	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	281					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACTCTCAGCCGACAGGGAGG	0.547												
AKT2	208	broad.mit.edu	37	19	40743902	40743902	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:40743902G>A	uc002onf.2	-	9	1067	c.805C>T	c.(805-807)CGG>TGG	p.R269W	AKT2_uc010egs.2_Missense_Mutation_p.R269W|AKT2_uc010egt.2_Missense_Mutation_p.R207W|AKT2_uc010xvj.1_Missense_Mutation_p.R207W|AKT2_uc010egu.1_Missense_Mutation_p.R207W|AKT2_uc002one.2_Missense_Mutation_p.R165W	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	269	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)			ACCACGTCCCGCGAGTGCAAG	0.597			A		ovarian|pancreatic 							
C19orf54	284325	broad.mit.edu	37	19	41249853	41249853	+	Silent	SNP	C	C	T	rs3745217	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:41249853C>T	uc002oou.1	-	5	795	c.675G>A	c.(673-675)CCG>CCA	p.P225P	C19orf54_uc002oow.1_Silent_p.P53P|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Missense_Mutation_p.R46H|C19orf54_uc010xvs.1_RNA	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	hypothetical protein LOC284325	225											0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCTCTGACACGGCTCATGGT	0.612												
HNRNPUL1	11100	broad.mit.edu	37	19	41798223	41798223	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:41798223T>A	uc002oqb.3	+	8	1362	c.1073T>A	c.(1072-1074)ATC>AAC	p.I358N	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.I258N|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.I258N|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.I358N|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.I244N|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.I258N|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.I258N|HNRNPUL1_uc010eho.2_Missense_Mutation_p.I258N|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.I258N|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.I214N|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.I258N	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	358	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						GCTTTCCGAATCCAGAAGGAA	0.478												
CEACAM4	1089	broad.mit.edu	37	19	42132059	42132059	+	Missense_Mutation	SNP	G	G	T	rs142356987	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:42132059G>T	uc002orh.1	-	2	451	c.340C>A	c.(340-342)CTG>ATG	p.L114M	CEACAM4_uc010xwd.1_Missense_Mutation_p.L114M	NM_001817	NP_001808	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion	114	Extracellular (Potential).|Ig-like V-type.					integral to plasma membrane|membrane fraction					0						GCGTCCTCCAGGGTGATGTTT	0.512												
GRIK5	2901	broad.mit.edu	37	19	42546801	42546801	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:42546801C>T	uc002osj.1	-	11	1411	c.1376G>A	c.(1375-1377)CGC>CAC	p.R459H	GRIK5_uc002osi.1_Missense_Mutation_p.R31H|GRIK5_uc010eib.1_Missense_Mutation_p.R378H	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	459	Extracellular (Potential).			RFR -> PFP (in Ref. 1; AAB22591).		cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTAGCGGAAGCGCAGCAGCTC	0.677												
ZNF526	116115	broad.mit.edu	37	19	42729088	42729088	+	Missense_Mutation	SNP	C	C	A	rs148307171		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:42729088C>A	uc002osz.1	+	3	689	c.533C>A	c.(532-534)CCT>CAT	p.P178H		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				CCTCCTTTGCCTCCCCCAACA	0.622												
ZNF575	284346	broad.mit.edu	37	19	44039443	44039443	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:44039443C>T	uc002ows.2	+	4	870	c.342C>T	c.(340-342)AGC>AGT	p.S114S	ZNF575_uc002owq.2_Silent_p.S213S	NM_174945	NP_777605	Q86XF7	ZN575_HUMAN	zinc finger protein 575	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0199)				TCACGCACAGCGGCGCCCGCC	0.716												
ZNF227	7770	broad.mit.edu	37	19	44740799	44740799	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:44740799C>T	uc002oyu.2	+	6	2421	c.2216C>T	c.(2215-2217)ACC>ATC	p.T739I	ZNF227_uc010xwu.1_Missense_Mutation_p.T688I|ZNF227_uc002oyv.2_Missense_Mutation_p.T739I|ZNF227_uc010xwv.1_Missense_Mutation_p.T688I|ZNF227_uc010xww.1_Missense_Mutation_p.T660I|ZNF227_uc002oyw.2_Missense_Mutation_p.T711I|ZNF227_uc010ejh.2_Missense_Mutation_p.T732I|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				GGTGTTCACACCAGGGAAAAA	0.493												
ZNF233	353355	broad.mit.edu	37	19	44778460	44778460	+	Silent	SNP	G	G	A	rs146745646	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:44778460G>A	uc002oyz.1	+	5	1774	c.1647G>A	c.(1645-1647)TCG>TCA	p.S549S	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Silent_p.S364S	NM_181756	NP_861421	A6NK53	ZN233_HUMAN	zinc finger protein 233	549	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2		Prostate(69;0.0435)|all_neural(266;0.226)				GTCAGAGTTCGCATCTCCAAG	0.468												
SFRS16	11129	broad.mit.edu	37	19	45573816	45573816	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:45573816G>A	uc002pak.2	+	20	2077	c.1979G>A	c.(1978-1980)CGA>CAA	p.R660Q	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Missense_Mutation_p.R598Q|SFRS16_uc002pam.2_Missense_Mutation_p.R641Q	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	660	Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGCTCTTCTCGAAGGTAAGGA	0.537												
ERCC2	2068	broad.mit.edu	37	19	45856015	45856015	+	Missense_Mutation	SNP	G	G	A	rs144511865		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:45856015G>A	uc002pbj.2	-	20	1938	c.1891C>T	c.(1891-1893)CGC>TGC	p.R631C	ERCC2_uc002pbh.2_Missense_Mutation_p.R194C|ERCC2_uc002pbi.2_Missense_Mutation_p.R324C|ERCC2_uc010ejz.2_Missense_Mutation_p.R553C|ERCC2_uc002pbk.2_Missense_Mutation_p.R607C	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	631	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TTGAGAATGCGGCTCTGTGTG	0.607			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
SIX5	147912	broad.mit.edu	37	19	46269033	46269033	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:46269033G>A	uc002pdb.2	-	3	2341	c.1946C>T	c.(1945-1947)GCG>GTG	p.A649V	SIX5_uc002pdc.2_3'UTR	NM_175875	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	649						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGGTGGGGGCGCCGGGAAGTT	0.682												
RSPH6A	81492	broad.mit.edu	37	19	46299296	46299296	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:46299296G>T	uc002pdm.2	-	6	2128	c.1985C>A	c.(1984-1986)CCA>CAA	p.P662Q	RSPH6A_uc002pdl.2_Missense_Mutation_p.P398Q	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	662	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2						AATGGGGGCTGGCAGGGCCGG	0.547												
PRKD2	25865	broad.mit.edu	37	19	47177801	47177801	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:47177801C>T	uc002pfh.2	-	19	2958	c.2616G>A	c.(2614-2616)GCG>GCA	p.A872A	PRKD2_uc002pfd.2_Silent_p.A246A|PRKD2_uc010eks.2_Silent_p.A275A|PRKD2_uc010ekt.2_Silent_p.A139A|PRKD2_uc002pfe.2_Silent_p.A402A|PRKD2_uc002pff.2_Silent_p.A392A|PRKD2_uc002pfg.2_Silent_p.A715A|PRKD2_uc002pfi.2_Silent_p.A872A|PRKD2_uc002pfj.2_Silent_p.A872A|PRKD2_uc010xye.1_Silent_p.A882A|PRKD2_uc002pfk.2_Silent_p.A715A	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	872					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGATGCGCTCCGCCAGCCCCT	0.622												
SAE1	10055	broad.mit.edu	37	19	47700504	47700504	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:47700504C>T	uc002pgc.2	+	7	804	c.748C>T	c.(748-750)CGT>TGT	p.R250C	SAE1_uc002pgd.2_Intron|SAE1_uc010ekx.2_Intron|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.R76C|SAE1_uc002pge.2_Missense_Mutation_p.R186C	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	250					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			ovary(1)	1		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		CTTAAAGTTCCGTACAGATAA	0.308												
SAE1	10055	broad.mit.edu	37	19	47712468	47712468	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:47712468T>C	uc002pgc.2	+	9	1057	c.1001T>C	c.(1000-1002)ATG>ACG	p.M334T	SAE1_uc002pgd.2_3'UTR|SAE1_uc010ekx.2_Silent_p.H262H|SAE1_uc010ekw.2_RNA|SAE1_uc010xyk.1_Missense_Mutation_p.M160T|SAE1_uc002pge.2_Missense_Mutation_p.M270T	NM_016402	NP_057486	Q9UBE0	SAE1_HUMAN	SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;	334					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			ovary(1)	1		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTCGATGGCATGAAGGGGAAT	0.522												
GPR77	27202	broad.mit.edu	37	19	47844468	47844468	+	Missense_Mutation	SNP	G	G	A	rs147418161		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:47844468G>A	uc010ela.1	+	2	630	c.412G>A	c.(412-414)GGG>AGG	p.G138R	GPR77_uc002pgk.1_Missense_Mutation_p.G138R	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	138	Cytoplasmic (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		CCTGGCTCTCGGGCCTGCCTG	0.677												
DHX34	9704	broad.mit.edu	37	19	47858495	47858495	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:47858495G>A	uc010xyn.1	+	3	1246	c.905G>A	c.(904-906)CGG>CAG	p.R302Q	DHX34_uc010elc.1_Missense_Mutation_p.R302Q	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	302	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)		TTGCCCACGCGGCCTGACCTC	0.587												
GRIN2D	2906	broad.mit.edu	37	19	48918247	48918247	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:48918247C>T	uc002pjc.3	+	6	1627	c.1539C>T	c.(1537-1539)CAC>CAT	p.H513H		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	513	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	ATGGCAAGCACGGAAAGAAGA	0.607												
RPL13A	23521	broad.mit.edu	37	19	49994304	49994304	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:49994304G>A	uc002pny.2	+	6	372	c.350G>A	c.(349-351)CGG>CAG	p.R117Q	RPL13A_uc002pnz.2_Missense_Mutation_p.R56Q|RPL13A_uc002poa.2_Missense_Mutation_p.R107Q|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	ribosomal protein L13a	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				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)		CAGAAAAAGCGGATGGTGGTT	0.562												
CPT1C	126129	broad.mit.edu	37	19	50208537	50208537	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:50208537A>G	uc002ppj.2	+	9	1151	c.946A>G	c.(946-948)ATT>GTT	p.I316V	CPT1C_uc002ppl.3_Missense_Mutation_p.I282V|CPT1C_uc002ppi.2_Missense_Mutation_p.I233V|CPT1C_uc002ppk.2_Missense_Mutation_p.I305V|CPT1C_uc010eng.2_Missense_Mutation_p.I316V|CPT1C_uc010enh.2_Missense_Mutation_p.I316V|CPT1C_uc010ybc.1_Missense_Mutation_p.I187V|CPT1C_uc010eni.1_5'Flank	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	316	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CACCACGCGGATTCCAGGGGT	0.428												
CPT1C	126129	broad.mit.edu	37	19	50210827	50210827	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:50210827C>A	uc002ppj.2	+	12	1601	c.1396C>A	c.(1396-1398)CTC>ATC	p.L466I	CPT1C_uc002ppl.3_Missense_Mutation_p.L432I|CPT1C_uc002ppi.2_Missense_Mutation_p.L383I|CPT1C_uc002ppk.2_Missense_Mutation_p.L455I|CPT1C_uc010eng.2_Missense_Mutation_p.L466I|CPT1C_uc010enh.2_Missense_Mutation_p.L466I|CPT1C_uc010ybc.1_Missense_Mutation_p.L337I|CPT1C_uc010eni.1_Missense_Mutation_p.L123I	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	466	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GAAGCTGGGCCTCAGCGTGGA	0.622												
ZNF473	25888	broad.mit.edu	37	19	50549303	50549303	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:50549303A>T	uc002prn.2	+	5	1840	c.1603A>T	c.(1603-1605)AGT>TGT	p.S535C	ZNF473_uc002prm.2_Missense_Mutation_p.S535C|ZNF473_uc010ybo.1_Missense_Mutation_p.S523C	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	535	C2H2-type 10.|Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGCCACGAGAGTGTTCACGC	0.453												
MYH14	79784	broad.mit.edu	37	19	50720966	50720966	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:50720966G>A	uc002prr.1	+	3	547	c.500G>A	c.(499-501)CGC>CAC	p.R167H	MYH14_uc010enu.1_Missense_Mutation_p.R167H|MYH14_uc002prq.1_Missense_Mutation_p.R167H	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	167	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGCAAGAAGCGCCACGAGGTG	0.617												
SHANK1	50944	broad.mit.edu	37	19	51169816	51169816	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:51169816G>A	uc002psx.1	-	22	5420	c.5401C>T	c.(5401-5403)CGT>TGT	p.R1801C	SHANK1_uc002psw.1_Missense_Mutation_p.R1185C	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1801					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAACAAGCACGCAGGGCCAGC	0.721												
GPR32	2854	broad.mit.edu	37	19	51274069	51274069	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:51274069G>A	uc010ycf.1	+	1	212	c.212G>A	c.(211-213)CGT>CAT	p.R71H		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	71	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACTGTCTTCCGTATGGCACGC	0.577												
SIGLEC8	27181	broad.mit.edu	37	19	51961534	51961534	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:51961534C>T	uc002pwt.2	-	1	175	c.108G>A	c.(106-108)ACG>ACA	p.T36T	SIGLEC8_uc010yda.1_Silent_p.T36T|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.T36T	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	36	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTCCTGCACCGTCACCAGCT	0.522												
SIGLEC12	89858	broad.mit.edu	37	19	52003521	52003521	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:52003521T>G	uc002pwx.1	-	2	517	c.461A>C	c.(460-462)GAG>GCG	p.E154A	SIGLEC12_uc002pww.1_Missense_Mutation_p.E36A|SIGLEC12_uc010eoy.1_Intron	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	154	Ig-like V-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCTGGCACCTCCAGCCTGTA	0.577												
ZNF468	90333	broad.mit.edu	37	19	53344433	53344433	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:53344433G>A	uc002qaf.2	-	4	1265	c.1114C>T	c.(1114-1116)CGC>TGC	p.R372C	ZNF468_uc002qae.2_Missense_Mutation_p.R319C	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	372	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)		CTATGATGGCGTGCAAGGGTT	0.378												
ZNF761	388561	broad.mit.edu	37	19	53957990	53957990	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:53957990C>T	uc010eqp.2	+	7	687	c.229C>T	c.(229-231)CAT>TAT	p.H77Y	ZNF761_uc010ydy.1_Missense_Mutation_p.H23Y|ZNF761_uc002qbt.1_Missense_Mutation_p.H23Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ATTGCAAATACATGAAAGTCA	0.378												
CACNG8	59283	broad.mit.edu	37	19	54481413	54481413	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:54481413C>T	uc002qcs.1	+	2	400	c.294C>T	c.(292-294)GGC>GGT	p.G98G		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	99					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		TGAAAAGAGGCGTCTGCGTGA	0.632												
CNOT3	4849	broad.mit.edu	37	19	54653309	54653309	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:54653309C>T	uc002qdj.1	+	13	1732	c.1421C>T	c.(1420-1422)GCG>GTG	p.A474V	CNOT3_uc010yel.1_Missense_Mutation_p.A474V|CNOT3_uc002qdi.2_Missense_Mutation_p.A387V|CNOT3_uc002qdk.1_Missense_Mutation_p.A474V|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_5'UTR	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	474	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAACCCAGTGCGGCAGCCCCA	0.672												
ZNF628	89887	broad.mit.edu	37	19	55995311	55995311	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:55995311T>C	uc002qld.2	+	3	3304	c.2739T>C	c.(2737-2739)GGT>GGC	p.G913G	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	913						nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCAGCACTGGTGTGGTCCAGG	0.667												
NLRP4	147945	broad.mit.edu	37	19	56370010	56370010	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:56370010C>T	uc002qmd.3	+	3	1673	c.1251C>T	c.(1249-1251)GAC>GAT	p.D417D	NLRP4_uc002qmf.2_Silent_p.D342D|NLRP4_uc010etf.2_Silent_p.D248D	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	417	NACHT.						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)		TTTGTGAAGACGACCTCCGGA	0.587												
ZNF71	58491	broad.mit.edu	37	19	57133306	57133306	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:57133306C>T	uc002qnm.3	+	3	889	c.651C>T	c.(649-651)GAC>GAT	p.D217D		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	217	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ATGTGTGCGACGTGTGTGGCA	0.657												
ZNF324B	388569	broad.mit.edu	37	19	58967762	58967762	+	Missense_Mutation	SNP	C	C	T	rs143809080		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:58967762C>T	uc002qsv.1	+	4	1558	c.1451C>T	c.(1450-1452)ACG>ATG	p.T484M	ZNF324B_uc002qsu.1_Missense_Mutation_p.T474M|ZNF324B_uc010euq.1_Missense_Mutation_p.T484M	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	484	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTCGTGTGCACGCAGTGTGGC	0.672												
ZNF324	25799	broad.mit.edu	37	19	58983109	58983109	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:58983109G>A	uc002qsw.1	+	4	1344	c.1250G>A	c.(1249-1251)CGC>CAC	p.R417H	ZNF324_uc002qsx.1_Missense_Mutation_p.R194H	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	417	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AAGCACCAGCGCGTGCACACA	0.662												
TAF1B	9014	broad.mit.edu	37	2	9985364	9985364	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:9985364C>T	uc002qzz.2	+	2	134	c.34C>T	c.(34-36)CGC>TGC	p.R12C	TAF1B_uc010exc.2_Missense_Mutation_p.R12C|TAF1B_uc002qzy.3_Missense_Mutation_p.R12C|TAF1B_uc010yja.1_Translation_Start_Site|TAF1B_uc010exd.2_Translation_Start_Site	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	12					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTTAAAGAACGCTGTACTCA	0.408												
ATP6V1C2	245973	broad.mit.edu	37	2	10912017	10912017	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:10912017G>A	uc002ras.2	+	7	632	c.523G>A	c.(523-525)GTG>ATG	p.V175M	ATP6V1C2_uc002rat.2_Missense_Mutation_p.V175M	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	vacuolar H+ ATPase C2 isoform a	175					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGAGGACTTCGTGCTGGATTC	0.532												
E2F6	1876	broad.mit.edu	37	2	11590210	11590210	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:11590210G>A	uc002rbh.2	-	5	871	c.579C>T	c.(577-579)GCC>GCT	p.A193A	E2F6_uc002rbe.2_Silent_p.A118A|E2F6_uc002rbf.2_Silent_p.A161A|E2F6_uc002rbg.2_Silent_p.A118A|E2F6_uc002rbi.2_Silent_p.A118A|E2F6_uc010yjl.1_Intron	NM_198256	NP_937987	O75461	E2F6_HUMAN	E2F transcription factor 6	193	Transcription repression.|Dimerization (Potential).				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			skin(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		GTTCATGGAAGGCCTGAATGC	0.413												
NTSR2	23620	broad.mit.edu	37	2	11798844	11798844	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:11798844G>A	uc002rbq.3	-	4	1068	c.994C>T	c.(994-996)CTG>TTG	p.L332L		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	332	Extracellular (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AAATTGTACAGTGGGCTGCAA	0.527												
APOB	338	broad.mit.edu	37	2	21232913	21232913	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:21232913A>G	uc002red.2	-	26	6955	c.6827T>C	c.(6826-6828)ATA>ACA	p.I2276T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2276					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGATGTCTATATTCTGTAT	0.363												
ASXL2	55252	broad.mit.edu	37	2	25966041	25966041	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:25966041G>A	uc002rgs.2	-	12	3386	c.3165C>T	c.(3163-3165)CAC>CAT	p.H1055H	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1055					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAGTCCTTCGTGGTATTGGT	0.507												
ASXL2	55252	broad.mit.edu	37	2	25966749	25966749	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:25966749G>A	uc002rgs.2	-	12	2678	c.2457C>T	c.(2455-2457)AGC>AGT	p.S819S	ASXL2_uc002rgt.1_Silent_p.S559S	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGTGGATGGCTGACAGAGG	0.522												
CENPA	1058	broad.mit.edu	37	2	27016109	27016109	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:27016109G>A	uc002rhr.2	+	4	568	c.385G>A	c.(385-387)GCC>ACC	p.A129T	CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Missense_Mutation_p.A103T	NM_001809	NP_001800	P49450	CENPA_HUMAN	centromere protein A isoform a	129	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCAACTGGCCCGGAGGAT	0.562												
PREB	10113	broad.mit.edu	37	2	27357254	27357254	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:27357254A>G	uc002rix.1	-	1	289	c.36T>C	c.(34-36)GCT>GCC	p.A12A	PREB_uc002riy.1_5'UTR|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Silent_p.A12A	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding protein	12	Cytoplasmic (Potential).				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGGAACGGAGCCCGGTACA	0.562												
SLC5A6	8884	broad.mit.edu	37	2	27430357	27430357	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:27430357A>G	uc002rjd.2	-	3	553	c.162T>C	c.(160-162)CAT>CAC	p.H54H	SLC5A6_uc010eyv.1_Silent_p.H54H|SLC5A6_uc002rje.1_Silent_p.H54H	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	54					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CACCAACAGTATGCCGGCCCC	0.597												
PLB1	151056	broad.mit.edu	37	2	28841220	28841220	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:28841220G>A	uc002rmb.1	+	46	3269	c.3269G>A	c.(3268-3270)CGA>CAA	p.R1090Q	PLB1_uc010ezj.1_Missense_Mutation_p.R1079Q|PLB1_uc002rme.1_Missense_Mutation_p.R55Q|PLB1_uc002rmf.1_RNA	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1090	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CACCAGCTCCGACCAGCAGAC	0.552												
ALK	238	broad.mit.edu	37	2	29917828	29917828	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:29917828C>T	uc002rmy.2	-	3	1747	c.840G>A	c.(838-840)CTG>CTA	p.L280L		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	280	MAM 1.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGAGGTCATGCAGTGGAGGGG	0.572			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
SRD5A2	6716	broad.mit.edu	37	2	31805915	31805915	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:31805915C>T	uc002rnw.1	-	1	126	c.55G>A	c.(55-57)GCC>ACC	p.A19T		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	19	Helical; (Potential).				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCCCCAAGGGCGACCAAAGTG	0.706												
BIRC6	57448	broad.mit.edu	37	2	32693612	32693612	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:32693612C>T	uc010ezu.2	+	29	6022	c.5888C>T	c.(5887-5889)GCA>GTA	p.A1963V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1963					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCAGATAAGGCAGTTGAGGAA	0.403												
CEBPZ	10153	broad.mit.edu	37	2	37458564	37458564	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:37458564T>C	uc002rpz.2	-	1	177	c.147A>G	c.(145-147)GGA>GGG	p.G49G	C2orf56_uc010ynj.1_5'Flank|C2orf56_uc002rqa.3_5'Flank|C2orf56_uc002rqc.3_5'Flank|C2orf56_uc010ynk.1_5'Flank|C2orf56_uc010ynl.1_5'Flank	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	49					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				CCTTGGTGCCTCCGAGCCGTA	0.637												
PIGF	5281	broad.mit.edu	37	2	46808671	46808671	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:46808671A>G	uc002rvd.2	-	6	770	c.606T>C	c.(604-606)ATT>ATC	p.I202I	RHOQ_uc002rva.2_3'UTR|uc002rvb.2_5'Flank|PIGF_uc002rvc.2_3'UTR	NM_002643	NP_002634	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	202	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGTGGTGAAATAACAAGGC	0.423												
TTC7A	57217	broad.mit.edu	37	2	47177502	47177502	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:47177502A>T	uc002rvo.2	+	2	553	c.185A>T	c.(184-186)GAT>GTT	p.D62V	TTC7A_uc002rvm.2_Missense_Mutation_p.D28V|TTC7A_uc002rvn.1_5'UTR|TTC7A_uc010fbb.2_Missense_Mutation_p.D62V|TTC7A_uc010fbc.2_5'UTR|TTC7A_uc002rvp.2_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	62							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)			TGCTTTTCAGATGACTTTGGG	0.512												
KLRAQ1	129285	broad.mit.edu	37	2	48725735	48725735	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:48725735G>A	uc002rwm.2	+	17	1981	c.1796G>A	c.(1795-1797)CGA>CAA	p.R599Q	KLRAQ1_uc002rwl.2_Missense_Mutation_p.R553Q|KLRAQ1_uc002rwk.2_Missense_Mutation_p.R599Q|KLRAQ1_uc010yok.1_Missense_Mutation_p.R568Q	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	599	Potential.									ovary(1)	1						GAAAACCAGCGAATTGCAGAT	0.448												
LHCGR	3973	broad.mit.edu	37	2	48915561	48915561	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:48915561C>T	uc002rwu.3	-	11	1445	c.1375G>A	c.(1375-1377)GTC>ATC	p.V459I	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	459	Helical; Name=3; (Potential).				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGAGTGATGACGGTGAGGGTG	0.478									Familial_Male-Limited_Precocious_Puberty			
NRXN1	9378	broad.mit.edu	37	2	50573840	50573840	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:50573840C>T	uc010fbp.2	-	1	1055	c.248G>A	c.(247-249)CGA>CAA	p.R83Q	NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	83	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTGTCCGCCTCGCAAGGATGC	0.592												
USP34	9736	broad.mit.edu	37	2	61439037	61439037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:61439037G>A	uc002sbe.2	-	69	8732	c.8710C>T	c.(8710-8712)CAG>TAG	p.Q2904*		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2904					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)			ATAAACAGCTGCATCAGGTTA	0.348												
CEP68	23177	broad.mit.edu	37	2	65298937	65298937	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:65298937C>A	uc002sdl.3	+	3	921	c.707C>A	c.(706-708)CCT>CAT	p.P236H	CEP68_uc002sdj.2_Missense_Mutation_p.P236H|CEP68_uc010yqb.1_Missense_Mutation_p.P236H|CEP68_uc002sdk.3_Missense_Mutation_p.P236H|CEP68_uc010yqc.1_Missense_Mutation_p.P236H|CEP68_uc010yqd.1_Missense_Mutation_p.P236H	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	236					centrosome organization	centrosome				skin(1)	1						CCCCAGGAACCTTCCTCTGTG	0.652												
ANTXR1	84168	broad.mit.edu	37	2	69420482	69420482	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:69420482T>C	uc002sfg.2	+	17	1725	c.1369T>C	c.(1369-1371)TTG>CTG	p.L457L		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	457	Cytoplasmic (Potential).				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						ACTCGATGCCTTGTGGGTCCT	0.478									Familial_Infantile_Hemangioma			
TEX261	113419	broad.mit.edu	37	2	71218969	71218969	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:71218969G>A	uc002shn.2	-	3	409	c.295C>T	c.(295-297)CTG>TTG	p.L99L	TEX261_uc010fdy.2_Silent_p.L52L	NM_144582	NP_653183	Q6UWH6	TX261_HUMAN	testis expressed sequence 261	99	Helical; (Potential).					integral to membrane					0						CCACACGACAGGATGAAGTTA	0.557												
SMYD5	10322	broad.mit.edu	37	2	73448971	73448971	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:73448971T>C	uc002siw.2	+	6	584	c.555T>C	c.(553-555)CGT>CGC	p.R185R	SMYD5_uc010yre.1_Silent_p.R69R|SMYD5_uc002six.1_5'Flank	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	185							metal ion binding				0						ACAAGGACCGTTGGATCAGAC	0.453												
SLC4A5	57835	broad.mit.edu	37	2	74474271	74474271	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:74474271C>T	uc002sko.1	-	14	1953	c.1951G>A	c.(1951-1953)GAT>AAT	p.D651N	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.D651N|SLC4A5_uc010ffc.1_Missense_Mutation_p.D651N|SLC4A5_uc002skp.1_Missense_Mutation_p.D587N|SLC4A5_uc002sks.1_Missense_Mutation_p.D651N	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	651	Helical; (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						TTGATGGCATCGTAGATGAAG	0.478												
C2orf65	130951	broad.mit.edu	37	2	74867329	74867329	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:74867329A>T	uc002smy.2	-	2	191	c.74T>A	c.(73-75)CTC>CAC	p.L25H	C2orf65_uc010ysa.1_Missense_Mutation_p.L25H|C2orf65_uc002smz.2_Missense_Mutation_p.L25H	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	hypothetical protein LOC130951	25					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				ovary(1)|pancreas(1)	2						GTGCACAATGAGAAGCCGTGG	0.552												
POLR1A	25885	broad.mit.edu	37	2	86267634	86267634	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:86267634C>T	uc002sqs.2	-	25	4000	c.3621G>A	c.(3619-3621)CCG>CCA	p.P1207P	POLR1A_uc010ytb.1_Silent_p.P573P|POLR1A_uc002sqt.1_Silent_p.P230P	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1207					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						CAGCCTCGCCCGGCTCACACA	0.647												
THNSL2	55258	broad.mit.edu	37	2	88485550	88485550	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:88485550C>T	uc002ssz.3	+	9	1516	c.1363C>T	c.(1363-1365)CGG>TGG	p.R455W	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_3'UTR|THNSL2_uc002ssx.3_3'UTR|THNSL2_uc002sta.3_3'UTR|THNSL2_uc002ssy.3_Missense_Mutation_p.R455W|THNSL2_uc010fhe.2_3'UTR	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	455					threonine biosynthetic process		threonine synthase activity			ovary(1)	1						CACCCTGATGCGGAGAGGTGA	0.612												
TEKT4	150483	broad.mit.edu	37	2	95540642	95540642	+	Missense_Mutation	SNP	G	G	A	rs146551570		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:95540642G>A	uc002stw.1	+	4	928	c.835G>A	c.(835-837)GAG>AAG	p.E279K	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	279					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						CGACACCTCCGAGGACCTGCG	0.677												
PROM2	150696	broad.mit.edu	37	2	95944487	95944487	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:95944487G>A	uc002suh.1	+	9	1202	c.1069G>A	c.(1069-1071)GCC>ACC	p.A357T	PROM2_uc002sui.2_Missense_Mutation_p.A357T|PROM2_uc002suj.2_Missense_Mutation_p.A11T|PROM2_uc002suk.2_Missense_Mutation_p.A357T|PROM2_uc002sul.2_5'UTR	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	357	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						CACCTTCAACGCCCTTCCAGC	0.627												
SNRNP200	23020	broad.mit.edu	37	2	96948969	96948969	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:96948969G>A	uc002svu.2	-	34	4971	c.4885C>T	c.(4885-4887)CGA>TGA	p.R1629*	SNRNP200_uc002svt.2_Nonsense_Mutation_p.R239*|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Nonsense_Mutation_p.R156*	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1629	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						ACCAGGCGTCGCTCCATGGGG	0.572												
KIAA1310	55683	broad.mit.edu	37	2	97274280	97274280	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:97274280C>T	uc002swn.3	-	14	1852	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q	KIAA1310_uc002swh.3_Missense_Mutation_p.R457Q|KIAA1310_uc002swi.3_Missense_Mutation_p.R470Q|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.R482Q|KIAA1310_uc010fhz.2_Missense_Mutation_p.R363Q|KIAA1310_uc002swl.3_Missense_Mutation_p.R470Q|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.R363Q|KIAA1310_uc002swp.1_Missense_Mutation_p.R470Q	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	569											0						AGCTTCTGTCCGCTGCACATG	0.532												
POU3F3	5455	broad.mit.edu	37	2	105473365	105473365	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:105473365C>T	uc010ywg.1	+	1	1397	c.1397C>T	c.(1396-1398)CCG>CTG	p.P466L		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	466					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						CGCATGACGCCGCCCGGGATC	0.672												
ST6GAL2	84620	broad.mit.edu	37	2	107459638	107459638	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:107459638C>T	uc002tdq.2	-	2	915	c.796G>A	c.(796-798)GGC>AGC	p.G266S	ST6GAL2_uc002tdr.2_Missense_Mutation_p.G266S|ST6GAL2_uc002tds.3_Missense_Mutation_p.G266S	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	266	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						GCCTCGGTGCCGTCCAGCGTC	0.766												
RANBP2	5903	broad.mit.edu	37	2	109352109	109352109	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:109352109G>A	uc002tem.3	+	5	653	c.527G>A	c.(526-528)CGC>CAC	p.R176H		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	176					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GAGGTGTATCGCTCAACTAAA	0.438												
GLI2	2736	broad.mit.edu	37	2	121728104	121728104	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:121728104G>A	uc010flp.2	+	6	1011	c.981G>A	c.(979-981)CAG>CAA	p.Q327Q	GLI2_uc002tmq.1_5'UTR|GLI2_uc002tmr.1_5'UTR|GLI2_uc002tmt.3_5'UTR|GLI2_uc002tmu.3_5'UTR|GLI2_uc002tmv.1_Missense_Mutation_p.A198T|GLI2_uc010flo.1_Silent_p.Q202Q|GLI2_uc002tmw.1_Silent_p.Q327Q	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	327					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				TGGCCCAGCAGCCCATGGCCC	0.637												
CNTNAP5	129684	broad.mit.edu	37	2	125261894	125261894	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:125261894A>T	uc002tno.2	+	8	1449	c.1085A>T	c.(1084-1086)GAA>GTA	p.E362V	CNTNAP5_uc010flu.2_Missense_Mutation_p.E363V	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	362	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCTGCTCCGAACCACAGATT	0.448												
CNTNAP5	129684	broad.mit.edu	37	2	125504945	125504945	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:125504945C>T	uc002tno.2	+	14	2578	c.2214C>T	c.(2212-2214)GAC>GAT	p.D738D	CNTNAP5_uc010flu.2_Silent_p.D739D	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	738	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAATTGCGACGCTGACAAGG	0.483												
ERCC3	2071	broad.mit.edu	37	2	128030517	128030517	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:128030517G>A	uc002toh.1	-	11	1846	c.1751C>T	c.(1750-1752)ACG>ATG	p.T584M	ERCC3_uc002toe.1_Missense_Mutation_p.T339M|ERCC3_uc002tof.1_Missense_Mutation_p.T520M|ERCC3_uc002tog.1_Missense_Mutation_p.T520M	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	584	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCCCTGAGACGTAGGTCCGTA	0.433			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
PROC	5624	broad.mit.edu	37	2	128184716	128184716	+	Silent	SNP	C	C	T	rs141249033		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:128184716C>T	uc002tok.2	+	8	787	c.714C>T	c.(712-714)TGC>TGT	p.C238C	PROC_uc002tol.2_Silent_p.C259C|PROC_uc010yzi.1_Silent_p.C294C|PROC_uc010yzj.1_Silent_p.C133C|PROC_uc010yzk.1_Silent_p.C293C|PROC_uc002tom.2_Silent_p.C272C	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	238	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGCTGGCCTGCGGGGCAGTGC	0.617												
PLEKHB2	55041	broad.mit.edu	37	2	131890540	131890540	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:131890540G>A	uc002tsg.3	+	6	959	c.399G>A	c.(397-399)ACG>ACA	p.T133T	PLEKHB2_uc002tsh.2_Silent_p.T133T|PLEKHB2_uc002tsj.3_Silent_p.T133T|PLEKHB2_uc002tsf.3_Silent_p.T133T|PLEKHB2_uc010zao.1_Silent_p.T83T|PLEKHB2_uc010zap.1_Silent_p.T133T|PLEKHB2_uc010zaq.1_Intron|PLEKHB2_uc002tsi.3_Silent_p.T174T	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B	133						membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CACCATACACGGCCTATGCTG	0.572												
LRP1B	53353	broad.mit.edu	37	2	141143560	141143560	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:141143560G>T	uc002tvj.1	-	67	11405	c.10433C>A	c.(10432-10434)CCT>CAT	p.P3478H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3478	Extracellular (Potential).|LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAATTCATGAGGTCCACAAGT	0.413										TSP Lung(27;0.18)		
TNFAIP6	7130	broad.mit.edu	37	2	152220529	152220529	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:152220529C>T	uc002txk.2	+	2	243	c.167C>T	c.(166-168)GCG>GTG	p.A56V		NM_007115	NP_009046	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	56	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		GAAGCTAAGGCGGTGTGTGAA	0.448												
NEB	4703	broad.mit.edu	37	2	152342437	152342437	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:152342437C>T	uc010fnx.2	-	149	20038	c.19847G>A	c.(19846-19848)CGT>CAT	p.R6616H	NEB_uc002txr.2_Missense_Mutation_p.R2946H|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Missense_Mutation_p.R385H|NEB_uc002txq.2_Missense_Mutation_p.R495H|NEB_uc010zca.1_Missense_Mutation_p.R447H|NEB_uc010zcb.1_Missense_Mutation_p.R385H	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6616	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATACATGGCACGGAAGATTTT	0.398												
KCNJ3	3760	broad.mit.edu	37	2	155566239	155566239	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:155566239C>T	uc002tyv.1	+	2	1022	c.827C>T	c.(826-828)GCC>GTC	p.A276V	KCNJ3_uc010zce.1_Intron	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	276	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)	GTGATCGATGCCAAAAGCCCC	0.463												
GPD2	2820	broad.mit.edu	37	2	157407179	157407179	+	Missense_Mutation	SNP	C	C	T	rs141792291	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:157407179C>T	uc002tzf.3	+	8	1252	c.892C>T	c.(892-894)CGC>TGC	p.R298C	GPD2_uc010zch.1_Missense_Mutation_p.R71C|GPD2_uc002tzd.3_Missense_Mutation_p.R298C|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	298					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						GGACTCTGTGCGCAAAATGGA	0.473												
CYTIP	9595	broad.mit.edu	37	2	158272437	158272437	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:158272437T>C	uc002tzj.1	-	8	904	c.832A>G	c.(832-834)ACG>GCG	p.T278A	CYTIP_uc010zcl.1_Missense_Mutation_p.T172A	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	278	Ser-rich.			T -> Q (in Ref. 5; AAA16575).	regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						TCTGTACTCGTCTGCCGACTG	0.547												
PKP4	8502	broad.mit.edu	37	2	159523059	159523059	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:159523059C>T	uc002tzv.2	+	16	2972	c.2712C>T	c.(2710-2712)CGC>CGT	p.R904R	PKP4_uc002tzu.2_Silent_p.R904R|PKP4_uc002tzw.2_Silent_p.R904R|PKP4_uc002tzx.2_Silent_p.R561R|PKP4_uc002uaa.2_Silent_p.R756R|uc002uab.1_Intron|PKP4_uc002uac.2_Silent_p.R85R|PKP4_uc002uad.2_RNA|PKP4_uc002uae.1_5'Flank	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	904					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						TAGATGTTCGCAACAAGGAGC	0.413										HNSCC(62;0.18)		
PKP4	8502	broad.mit.edu	37	2	159530257	159530257	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:159530257G>A	uc002tzv.2	+	18	3253	c.2993G>A	c.(2992-2994)CGG>CAG	p.R998Q	PKP4_uc002tzw.2_Missense_Mutation_p.R998Q|PKP4_uc002tzx.2_Missense_Mutation_p.R655Q|PKP4_uc002uaa.2_Missense_Mutation_p.R850Q|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.R179Q|PKP4_uc002uad.2_RNA|PKP4_uc002uae.1_Missense_Mutation_p.R85Q	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	998					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						CGGGACCTCCGGAGCATTTAT	0.383										HNSCC(62;0.18)		
SCN1A	6323	broad.mit.edu	37	2	166894493	166894493	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:166894493A>G	uc010zcz.1	-	15	2724	c.2706T>C	c.(2704-2706)GGT>GGC	p.G902G	SCN1A_uc002udo.3_Silent_p.G782G|SCN1A_uc010fpk.2_Silent_p.G754G	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	913	II.|Helical; Name=S5 of repeat II; (By similarity).					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)	TGTAGCTTTTACCAAAGAGCT	0.493												
LRP2	4036	broad.mit.edu	37	2	169989169	169989169	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:169989169T>A	uc002ues.2	-	77	13856	c.13643A>T	c.(13642-13644)GAT>GTT	p.D4548V		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4548	Cytoplasmic (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)	ATTCTTATTATCCACATTTTC	0.383												
LRP2	4036	broad.mit.edu	37	2	170101377	170101377	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:170101377A>G	uc002ues.2	-	22	3469	c.3256T>C	c.(3256-3258)TGT>CGT	p.C1086R	LRP2_uc010zdf.1_Missense_Mutation_p.C949R	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1086	LDL-receptor class A 9.|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)	CGTTTGTCACAGCGCCAGTGT	0.507												
RAPGEF4	11069	broad.mit.edu	37	2	173850209	173850209	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:173850209G>A	uc002uhv.3	+	12	1325	c.1138G>A	c.(1138-1140)GGA>AGA	p.G380R	RAPGEF4_uc002uhu.2_Missense_Mutation_p.G380R|RAPGEF4_uc002uhw.3_Missense_Mutation_p.G236R|RAPGEF4_uc010zec.1_Missense_Mutation_p.G227R|RAPGEF4_uc010zed.1_Missense_Mutation_p.G209R|RAPGEF4_uc010zee.1_Missense_Mutation_p.G227R|RAPGEF4_uc010fqo.2_Missense_Mutation_p.G209R|RAPGEF4_uc010zef.1_Missense_Mutation_p.G160R|RAPGEF4_uc010zeg.1_Missense_Mutation_p.G207R|RAPGEF4_uc010fqp.1_Missense_Mutation_p.G160R|RAPGEF4_uc010zeh.1_Missense_Mutation_p.G160R	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	380	cAMP 2.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCACGCCAAAGGAGGGACTGT	0.512												
RAPGEF4	11069	broad.mit.edu	37	2	173885388	173885388	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:173885388C>T	uc002uhv.3	+	23	2385	c.2198C>T	c.(2197-2199)ACG>ATG	p.T733M	RAPGEF4_uc002uhw.3_Missense_Mutation_p.T589M	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	733					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GTATTTACGACGCTCACCATT	0.438												
PRKRA	8575	broad.mit.edu	37	2	179309177	179309177	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179309177T>C	uc002umf.2	-	4	569	c.368A>G	c.(367-369)AAC>AGC	p.N123S	PRKRA_uc002umc.2_5'Flank|PRKRA_uc002umd.2_Missense_Mutation_p.N98S|PRKRA_uc002ume.2_Missense_Mutation_p.N112S|PRKRA_uc002umg.2_Missense_Mutation_p.N10S	NM_003690	NP_003681	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double	123	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ATTAAGCTGGTTCTTTGGTTG	0.353												
TTN	7273	broad.mit.edu	37	2	179395781	179395781	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179395781C>A	uc010zfg.1	-	307	98081	c.97857G>T	c.(97855-97857)GAG>GAT	p.E32619D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E26314D|TTN_uc010zfi.1_Missense_Mutation_p.E26247D|TTN_uc010zfj.1_Missense_Mutation_p.E26122D|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33546							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)			CTGAAGAGATCTCAAAGGTTG	0.488												
TTN	7273	broad.mit.edu	37	2	179401935	179401935	+	Missense_Mutation	SNP	C	C	T	rs72648278		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179401935C>T	uc010zfg.1	-	305	92421	c.92197G>A	c.(92197-92199)GAA>AAA	p.E30733K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24428K|TTN_uc010zfi.1_Missense_Mutation_p.E24361K|TTN_uc010zfj.1_Missense_Mutation_p.E24236K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31660							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)			AATAGAGCTTCGATCACAATT	0.428												
TTN	7273	broad.mit.edu	37	2	179402474	179402474	+	Missense_Mutation	SNP	G	G	A	rs143556947	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179402474G>A	uc010zfg.1	-	304	91980	c.91756C>T	c.(91756-91758)CGC>TGC	p.R30586C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R24281C|TTN_uc010zfi.1_Missense_Mutation_p.R24214C|TTN_uc010zfj.1_Missense_Mutation_p.R24089C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31513							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)			GTGTGTGTGCGTCCATCTGAA	0.423												
TTN	7273	broad.mit.edu	37	2	179424199	179424199	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179424199G>A	uc010zfg.1	-	275	79180	c.78956C>T	c.(78955-78957)GCC>GTC	p.A26319V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A20014V|TTN_uc010zfi.1_Missense_Mutation_p.A19947V|TTN_uc010zfj.1_Missense_Mutation_p.A19822V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27246							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)			TTTCTTGCTGGCCTCACGTTT	0.443												
TTN	7273	broad.mit.edu	37	2	179605033	179605033	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179605033A>G	uc010zfh.1	-	46	12638	c.12414T>C	c.(12412-12414)AAT>AAC	p.N4138N	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.N4071N|TTN_uc010zfj.1_Silent_p.N3946N|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCAGTGGATTTGCACTTT	0.438												
TTN	7273	broad.mit.edu	37	2	179621192	179621192	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179621192C>A	uc010zfh.1	-	44	10722	c.10498G>T	c.(10498-10500)GTA>TTA	p.V3500L	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGCACTTTACAGTGACGTCC	0.453												
TTN	7273	broad.mit.edu	37	2	179640696	179640696	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:179640696A>G	uc010zfg.1	-	28	6119	c.5895T>C	c.(5893-5895)GAT>GAC	p.D1965D	TTN_uc010zfh.1_Silent_p.D1919D|TTN_uc010zfi.1_Silent_p.D1919D|TTN_uc010zfj.1_Silent_p.D1919D|TTN_uc002unb.2_Silent_p.D1965D|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1965							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)			CAACAGGTCTATCCACTTTTT	0.448												
NAB1	4664	broad.mit.edu	37	2	191524446	191524446	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:191524446G>A	uc002usb.2	+	4	1116	c.544G>A	c.(544-546)GCG>ACG	p.A182T	NAB1_uc010fsc.2_Missense_Mutation_p.A182T|NAB1_uc010fsd.2_Missense_Mutation_p.A182T|NAB1_uc002usc.2_Missense_Mutation_p.A182T|NAB1_uc010zgh.1_Missense_Mutation_p.A182T	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	182					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GGGCTCCCCCGCGTCCCCAAA	0.627												
SF3B1	23451	broad.mit.edu	37	2	198265472	198265472	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:198265472A>G	uc002uue.2	-	18	2733	c.2685T>C	c.(2683-2685)GGT>GGC	p.G895G		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	895					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CATAAAGAATACCATCAATCA	0.323												
KCTD18	130535	broad.mit.edu	37	2	201354988	201354988	+	Silent	SNP	T	T	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:201354988T>A	uc002uvs.2	-	7	1633	c.1116A>T	c.(1114-1116)ACA>ACT	p.T372T	KCTD18_uc002uvt.2_Silent_p.T372T	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	372						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						CCCGCTGGGGTGTAGGCTTCT	0.647												
STRADB	55437	broad.mit.edu	37	2	202323572	202323572	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:202323572T>C	uc002uyd.3	+	3	443	c.78T>C	c.(76-78)AGT>AGC	p.S26S		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	26					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			skin(2)|stomach(1)|lung(1)	4						CTGAAACCAGTATCCATCAAT	0.229												
ALS2CR8	79800	broad.mit.edu	37	2	203807539	203807539	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:203807539G>A	uc002uzo.2	+	4	435	c.155G>A	c.(154-156)CGT>CAT	p.R52H	ALS2CR8_uc002uzn.2_Intron|ALS2CR8_uc002uzm.2_Missense_Mutation_p.R52H|ALS2CR8_uc010zhy.1_Missense_Mutation_p.R52H|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Intron|ALS2CR8_uc010zib.1_Intron|ALS2CR8_uc010zic.1_Intron|ALS2CR8_uc002uzp.2_Missense_Mutation_p.R52H	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	52										large_intestine(1)|ovary(1)	2						ATCACTACTCGTGAAGCAAAT	0.408												
NDUFS1	4719	broad.mit.edu	37	2	207009720	207009720	+	Silent	SNP	C	C	T	rs148726142		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:207009720C>T	uc002vbe.2	-	9	895	c.768G>A	c.(766-768)GCG>GCA	p.A256A	NDUFS1_uc010ziq.1_Silent_p.A270A|NDUFS1_uc010zir.1_Silent_p.A220A|NDUFS1_uc010zis.1_Silent_p.A199A|NDUFS1_uc010zit.1_Silent_p.A145A|NDUFS1_uc010ziu.1_Silent_p.A140A	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	256					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	TACTTCCAACCGCATCCATTA	0.393												
SPAG16	79582	broad.mit.edu	37	2	214160816	214160816	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:214160816T>C	uc002veq.2	+	2	257	c.165T>C	c.(163-165)GAT>GAC	p.D55D	SPAG16_uc010fuz.1_5'UTR|SPAG16_uc002ver.2_5'UTR|SPAG16_uc010zjk.1_Missense_Mutation_p.M1T|SPAG16_uc002veo.2_Silent_p.D55D|SPAG16_uc002vep.1_Silent_p.D55D|SPAG16_uc002ves.1_Intron	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	55					cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CATCTGAAGATGACTATGAAT	0.274												
ABCA12	26154	broad.mit.edu	37	2	215876269	215876269	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:215876269C>T	uc002vew.2	-	17	2446	c.2226G>A	c.(2224-2226)ATG>ATA	p.M742I	ABCA12_uc002vev.2_Missense_Mutation_p.M424I|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	742					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAGAGGGCAGCATGGCAGTTA	0.393												
ATIC	471	broad.mit.edu	37	2	216191614	216191614	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:216191614G>A	uc002vex.3	+	7	775	c.601G>A	c.(601-603)GTA>ATA	p.V201I	ATIC_uc010zjo.1_Missense_Mutation_p.V142I|ATIC_uc002vey.3_Missense_Mutation_p.V200I	NM_004044	NP_004035	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide	201					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CAGCAAAGGCGTATCTCAGAT	0.468			T	ALK	ALCL							
TNS1	7145	broad.mit.edu	37	2	218700748	218700748	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:218700748C>T	uc002vgt.2	-	18	3217	c.2819G>A	c.(2818-2820)CGG>CAG	p.R940Q	TNS1_uc002vgr.2_Missense_Mutation_p.R940Q|TNS1_uc002vgs.2_Missense_Mutation_p.R940Q|TNS1_uc010zjv.1_Missense_Mutation_p.R940Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	940						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTCTTTGGGCCGCCCTCCAGG	0.562												
USP37	57695	broad.mit.edu	37	2	219410943	219410943	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:219410943C>T	uc002vie.2	-	8	1133	c.680_splice	c.e8+1	p.S227_splice	USP37_uc010fvs.1_Splice_Site_p.S227_splice|USP37_uc010zkf.1_Splice_Site_p.S227_splice|USP37_uc002vif.2_Splice_Site_p.S227_splice|USP37_uc002vig.2_Splice_Site_p.S155_splice|USP37_uc010zkg.1_Splice_Site_p.S227_splice	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AAGTAACTTACGATGATGAAT	0.343												
TUBA4A	7277	broad.mit.edu	37	2	220115630	220115630	+	Missense_Mutation	SNP	C	C	T	rs141069951		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:220115630C>T	uc002vkt.1	-	4	849	c.791G>A	c.(790-792)CGC>CAC	p.R264H	TUBA4A_uc010zkz.1_Missense_Mutation_p.R249H|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	tubulin, alpha 4a	264					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGTGGATGCGAGGGTAGGG	0.557												
SPEG	10290	broad.mit.edu	37	2	220354421	220354421	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:220354421T>G	uc010fwg.2	+	36	8681	c.8681T>G	c.(8680-8682)GTG>GGG	p.V2894G		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2894	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTTAAACCAGTGTCTTCCTCT	0.602												
TMEM198	130612	broad.mit.edu	37	2	220413898	220413898	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:220413898G>A	uc002vme.2	+	5	1352	c.767G>A	c.(766-768)CGC>CAC	p.R256H	TMEM198_uc002vmf.2_Missense_Mutation_p.R256H|hsa-mir-3132|MI0014152_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	256	Arg-rich.					integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGCGCCGACGCGTGCAACTG	0.627												
OBSL1	23363	broad.mit.edu	37	2	220421178	220421178	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:220421178C>T	uc010fwk.2	-	13	4391	c.4334G>A	c.(4333-4335)CGA>CAA	p.R1445Q	OBSL1_uc002vmh.1_Missense_Mutation_p.R344Q|OBSL1_uc010zli.1_Missense_Mutation_p.R252Q|OBSL1_uc010fwl.1_Missense_Mutation_p.R920Q	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1445	Ig-like 12.				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)		GACCTAACCTCGAACATGGAG	0.597												
EPHA4	2043	broad.mit.edu	37	2	222433479	222433479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:222433479G>A	uc002vmq.2	-	2	160	c.118C>T	c.(118-120)CAG>TAG	p.Q40*	EPHA4_uc002vmr.2_Nonsense_Mutation_p.Q40*|EPHA4_uc010zlm.1_Intron|EPHA4_uc010zln.1_Nonsense_Mutation_p.Q40*	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	40	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AGTTCTCCCTGAACAGATCTG	0.403												
IRS1	3667	broad.mit.edu	37	2	227660213	227660213	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:227660213C>T	uc002voh.3	-	1	3294	c.3242G>A	c.(3241-3243)CGC>CAC	p.R1081H		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	1081					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACTCTGGTTGCGGTTAGGACT	0.657												
IRS1	3667	broad.mit.edu	37	2	227662740	227662740	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:227662740G>A	uc002voh.3	-	1	767	c.715C>T	c.(715-717)CAG>TAG	p.Q239*		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	239	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TCATCCACCTGCATCCAGAAC	0.612											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IRS1	3667	broad.mit.edu	37	2	227663331	227663331	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:227663331C>T	uc002voh.3	-	1	176	c.124G>A	c.(124-126)GCG>ACG	p.A42T		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	42	PH.|Mediates interaction with PHIP (By similarity).				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TCGAGGCGCGCCGGGCCCCCA	0.627												
COL4A4	1286	broad.mit.edu	37	2	227985765	227985765	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:227985765C>T	uc010zlt.1	-	5	946	c.292G>A	c.(292-294)GGC>AGC	p.G98S		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	98	Triple-helical region.				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)		CCAGGAGGGCCGCGGTCCCCT	0.557												
SPHKAP	80309	broad.mit.edu	37	2	228883949	228883949	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:228883949G>A	uc002vpq.2	-	7	1668	c.1621C>T	c.(1621-1623)CCC>TCC	p.P541S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P541S|SPHKAP_uc010zlx.1_Missense_Mutation_p.P541S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	541						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTCCTTGGGGTGCTTGAGTT	0.532												
SLC16A14	151473	broad.mit.edu	37	2	230911163	230911163	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:230911163G>A	uc002vqd.1	-	4	1042	c.679C>T	c.(679-681)CGT>TGT	p.R227C	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Missense_Mutation_p.R227C|SLC16A14_uc002vqf.2_Missense_Mutation_p.R227C	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	227	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGCAGGCCACGCACATCTTTC	0.562												
ARMC9	80210	broad.mit.edu	37	2	232079591	232079591	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:232079591C>T	uc002vrq.3	+	4	337	c.225C>T	c.(223-225)TTC>TTT	p.F75F	ARMC9_uc002vrp.3_Silent_p.F75F	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	75							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGGTGTTCTTCGATCTGTGGG	0.453												
CHRNG	1146	broad.mit.edu	37	2	233410403	233410403	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:233410403C>A	uc002vsx.1	+	12	1552	c.1531C>A	c.(1531-1533)CCC>ACC	p.P511T	CHRNG_uc010fye.1_Missense_Mutation_p.P459T	NM_005199	NP_005190	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma	511					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity				0		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		AGATCCACGCCCCTACCTGCC	0.602												
UGT1A8	54576	broad.mit.edu	37	2	234526809	234526809	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:234526809C>A	uc002vup.2	+	1	519	c.456C>A	c.(454-456)GCC>GCA	p.A152A	UGT1A8_uc010zmv.1_Silent_p.A152A	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN	UDP glycosyltransferase 1 family, polypeptide A8	152					drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding			ovary(2)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTTTTGATGCCTGTGGCTTAA	0.428												
HJURP	55355	broad.mit.edu	37	2	234750011	234750011	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:234750011G>A	uc002vvg.2	-	8	1481	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V	HJURP_uc010znd.1_Missense_Mutation_p.A411V|HJURP_uc010zne.1_Missense_Mutation_p.A380V	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	472					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)		ACCAGGACTCGCAGGACCCCC	0.542												
AGAP1	116987	broad.mit.edu	37	2	236708038	236708038	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:236708038G>A	uc002vvs.2	+	8	1424	c.829G>A	c.(829-831)GAC>AAC	p.D277N	AGAP1_uc002vvt.2_Missense_Mutation_p.D277N	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	277					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GAGTTTAAGCGACTATTCCTC	0.507												
COL6A3	1293	broad.mit.edu	37	2	238280583	238280583	+	Silent	SNP	G	G	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:238280583G>C	uc002vwl.2	-	9	4362	c.4077C>G	c.(4075-4077)CTC>CTG	p.L1359L	COL6A3_uc002vwo.2_Silent_p.L1153L|COL6A3_uc010znj.1_Silent_p.L752L|COL6A3_uc002vwq.2_Silent_p.L1153L|COL6A3_uc002vwr.2_Silent_p.L952L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1359	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAAACTGCTTGAGCTCCACCG	0.617												
OR6B2	389090	broad.mit.edu	37	2	240969841	240969841	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:240969841A>G	uc002vyr.2	-	2	52	c.6T>C	c.(4-6)AGT>AGC	p.S2S	OR6B2_uc010zoc.1_Silent_p.S2S	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CATTCTCCCCACTCATGCCTC	0.597												
KIF1A	547	broad.mit.edu	37	2	241706349	241706349	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:241706349G>T	uc002vzy.2	-	18	1786	c.1640C>A	c.(1639-1641)TCC>TAC	p.S547Y	KIF1A_uc010fzk.2_Missense_Mutation_p.S556Y|KIF1A_uc002vzz.1_Missense_Mutation_p.S556Y	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	547	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCCTCCCCTGGAGTCGCTCCG	0.637												
ANO7	50636	broad.mit.edu	37	2	242154253	242154253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:242154253C>T	uc002wax.2	+	18	2027	c.1924C>T	c.(1924-1926)CAG>TAG	p.Q642*		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	642	Extracellular (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						CGAGCTGGCACAGGAGCTCCT	0.632												
HDLBP	3069	broad.mit.edu	37	2	242176046	242176046	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:242176046G>A	uc002waz.2	-	21	3116	c.2888C>T	c.(2887-2889)GCC>GTC	p.A963V	HDLBP_uc002wba.2_Missense_Mutation_p.A963V|HDLBP_uc002wbb.2_Missense_Mutation_p.A915V	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	963	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGCTTCCTTGGCAGCCTCACA	0.612												
HDLBP	3069	broad.mit.edu	37	2	242179429	242179429	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:242179429G>A	uc002waz.2	-	18	2506	c.2278C>T	c.(2278-2280)CGT>TGT	p.R760C	HDLBP_uc002wba.2_Missense_Mutation_p.R760C|HDLBP_uc002wbb.2_Missense_Mutation_p.R712C	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	760	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AAGATGACACGTGCTCCAGTG	0.577												
TGM3	7053	broad.mit.edu	37	20	2315907	2315907	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:2315907C>A	uc002wfx.3	+	11	1885	c.1788C>A	c.(1786-1788)ACC>ACA	p.T596T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	596					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	ACAACCCCACCTTGACCCTGG	0.617												
TGM6	343641	broad.mit.edu	37	20	2384451	2384451	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:2384451C>A	uc002wfy.1	+	9	1379	c.1318C>A	c.(1318-1320)CTC>ATC	p.L440I	TGM6_uc010gal.1_Missense_Mutation_p.L440I	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	440					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	CATCACTGACCTCTACAAGTA	0.592												
TMX4	56255	broad.mit.edu	37	20	7980488	7980488	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:7980488G>A	uc002wmx.1	-	4	491	c.358C>T	c.(358-360)CGC>TGC	p.R120C		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	120	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0						CGATAACGGCGGAATATCCCA	0.393												
FLRT3	23767	broad.mit.edu	37	20	14307986	14307986	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:14307986A>G	uc002wov.1	-	3	634	c.167T>C	c.(166-168)ATA>ACA	p.I56T	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.I56T	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	56	Extracellular (Potential).|LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ATCCTCTGGTATTCCTGTTGG	0.403												
RRBP1	6238	broad.mit.edu	37	20	17602500	17602500	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:17602500C>A	uc002wpv.1	-	15	2295	c.1941G>T	c.(1939-1941)CAG>CAT	p.Q647H	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.Q17H|RRBP1_uc002wpu.2_Missense_Mutation_p.Q421H|RRBP1_uc002wpw.1_Missense_Mutation_p.Q647H|RRBP1_uc010gcl.1_Missense_Mutation_p.Q421H|RRBP1_uc010gcm.1_Missense_Mutation_p.Q100H	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1080	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CCCCTCCTACCTGTTGTGCCA	0.592												
RALGAPA2	57186	broad.mit.edu	37	20	20453516	20453516	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:20453516C>T	uc002wrz.2	-	37	5595	c.5452G>A	c.(5452-5454)GCC>ACC	p.A1818T	RALGAPA2_uc010gcx.2_Missense_Mutation_p.A1522T|RALGAPA2_uc010zsg.1_Missense_Mutation_p.A1266T|RALGAPA2_uc002wsa.1_Missense_Mutation_p.A590T	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1818	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						GCCCTGCTGGCGTTGATGCAC	0.468												
SSTR4	6754	broad.mit.edu	37	20	23016874	23016874	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:23016874C>T	uc002wsr.2	+	1	818	c.754C>T	c.(754-756)CGC>TGC	p.R252C		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	252	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGCGCAGGCGCTCGGAGAA	0.632												
PYGB	5834	broad.mit.edu	37	20	25261746	25261746	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:25261746G>T	uc002wup.2	+	11	1510	c.1401G>T	c.(1399-1401)TCG>TCT	p.S467S		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	467					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	TGAAACAGTCGGTGTGAGTGG	0.592												
PYGB	5834	broad.mit.edu	37	20	25277133	25277133	+	Missense_Mutation	SNP	C	C	T	rs116595887	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:25277133C>T	uc002wup.2	+	20	2616	c.2507C>T	c.(2506-2508)CCG>CTG	p.P836L	ABHD12_uc002wuq.2_Intron|ABHD12_uc002wur.2_Intron	NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	836				IPPPNIPRD -> LQHLPHPEWESGGATCWAPPELCTHLAM Y (in Ref. 1; AAA59597).	glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	CTGCAGATCCCGCCCCCCAAC	0.602												
NINL	22981	broad.mit.edu	37	20	25434182	25434182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:25434182G>A	uc002wux.1	-	24	4128	c.4054C>T	c.(4054-4056)CGA>TGA	p.R1352*	NINL_uc010gdn.1_Nonsense_Mutation_p.R1003*|NINL_uc002wuw.1_Nonsense_Mutation_p.R143*	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1352	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TCGGCGCCTCGCTGCTTCTCC	0.552												
C20orf112	140688	broad.mit.edu	37	20	31040126	31040126	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:31040126C>T	uc002wxu.3	-	7	1160	c.1003G>A	c.(1003-1005)GGC>AGC	p.G335S	C20orf112_uc010gec.2_Missense_Mutation_p.G160S	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	335											0						TAGTTGAGGCCGCCGTTGGCG	0.632												
AHCY	191	broad.mit.edu	37	20	32883312	32883312	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:32883312C>T	uc002xai.2	-	2	247	c.108G>A	c.(106-108)CGG>CGA	p.R36R	AHCY_uc002xaj.2_Silent_p.R8R|AHCY_uc010get.2_Silent_p.R36R	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	36					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						AGTACCGCTCCCGCATACGCA	0.662												
DYNLRB1	83658	broad.mit.edu	37	20	33122488	33122488	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:33122488A>G	uc002xal.2	+	3	196	c.136A>G	c.(136-138)ATG>GTG	p.M46V	DYNLRB1_uc010zuk.1_Missense_Mutation_p.M46V|DYNLRB1_uc002xam.2_RNA|DYNLRB1_uc002xan.2_RNA	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Roadblock-1	46					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity				0						TGCCAGCCTCATGCACAGCTT	0.547												
NCOA6	23054	broad.mit.edu	37	20	33364108	33364108	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:33364108C>T	uc002xav.2	-	5	2950	c.379G>A	c.(379-381)GTT>ATT	p.V127I	NCOA6_uc002xaw.2_Missense_Mutation_p.V127I|NCOA6_uc010gew.1_Missense_Mutation_p.V127I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	127	TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						TCAATCTGAACGGAGAGAATC	0.488												
KIAA0406	9675	broad.mit.edu	37	20	36640099	36640099	+	Missense_Mutation	SNP	C	C	T	rs141770247	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:36640099C>T	uc002xhl.2	-	3	2329	c.2120G>A	c.(2119-2121)CGT>CAT	p.R707H	KIAA0406_uc002xhm.2_Missense_Mutation_p.R707H	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	707							binding				0		Myeloproliferative disorder(115;0.00874)				AGCCAGATGACGCAGATTTAA	0.483												
ZNF335	63925	broad.mit.edu	37	20	44594330	44594330	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:44594330G>A	uc002xqw.2	-	7	1162	c.1039C>T	c.(1039-1041)CCC>TCC	p.P347S	ZNF335_uc010zxk.1_Missense_Mutation_p.P192S|ZNF335_uc002xqx.1_Missense_Mutation_p.P315S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				CTCCTTCGGGGCCTTGGGGTA	0.662												
MMP9	4318	broad.mit.edu	37	20	44639874	44639874	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:44639874G>A	uc002xqz.2	+	5	761	c.742G>A	c.(742-744)GGT>AGT	p.G248S		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	248	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CACCACCGACGGTCGCTCCGA	0.647												
MMP9	4318	broad.mit.edu	37	20	44642136	44642136	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:44642136G>A	uc002xqz.2	+	9	1592	c.1573G>A	c.(1573-1575)GCG>ACG	p.A525T		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	525	Hemopexin-like 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGACGCCATCGCGGAGATTGG	0.512											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EYA2	2139	broad.mit.edu	37	20	45725724	45725724	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:45725724C>T	uc002xsm.2	+	9	1179	c.805C>T	c.(805-807)CGT>TGT	p.R269C	EYA2_uc010ghp.2_Missense_Mutation_p.R269C|EYA2_uc002xsn.2_Missense_Mutation_p.R274C|EYA2_uc002xso.2_Missense_Mutation_p.R269C|EYA2_uc002xsp.2_Missense_Mutation_p.R269C|EYA2_uc002xsq.2_Missense_Mutation_p.R269C	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	269					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				TTCATCACAGCGTGTGTTCGT	0.423												
ZMYND8	23613	broad.mit.edu	37	20	45853116	45853116	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:45853116T>C	uc002xta.1	-	19	3304	c.3050A>G	c.(3049-3051)CAG>CGG	p.Q1017R	ZMYND8_uc010ghq.1_Missense_Mutation_p.Q648R|ZMYND8_uc010ghr.1_Missense_Mutation_p.Q919R|ZMYND8_uc002xst.1_Missense_Mutation_p.Q899R|ZMYND8_uc002xsu.1_Missense_Mutation_p.Q890R|ZMYND8_uc002xsv.1_Missense_Mutation_p.Q945R|ZMYND8_uc002xsw.1_Missense_Mutation_p.Q723R|ZMYND8_uc002xsx.1_Missense_Mutation_p.Q723R|ZMYND8_uc002xsy.1_Missense_Mutation_p.Q946R|ZMYND8_uc002xsz.1_Missense_Mutation_p.Q908R|ZMYND8_uc010zxy.1_Missense_Mutation_p.Q1044R|ZMYND8_uc002xtb.1_Missense_Mutation_p.Q991R|ZMYND8_uc002xss.2_Missense_Mutation_p.Q1017R|ZMYND8_uc010zxz.1_Missense_Mutation_p.Q885R|ZMYND8_uc002xtc.1_Missense_Mutation_p.Q991R|ZMYND8_uc002xtd.1_Missense_Mutation_p.Q966R|ZMYND8_uc002xte.1_Missense_Mutation_p.Q971R|ZMYND8_uc010zya.1_Missense_Mutation_p.Q1017R|ZMYND8_uc002xtf.1_Missense_Mutation_p.Q1037R|ZMYND8_uc002xsr.1_Missense_Mutation_p.Q116R	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	1017							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)			ATCCACCGCCTGCTGCTTCTC	0.592												
SLC9A8	23315	broad.mit.edu	37	20	48504378	48504378	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:48504378G>A	uc002xuv.1	+	16	1861	c.1651G>A	c.(1651-1653)GGG>AGG	p.G551R	SLC9A8_uc010zym.1_Missense_Mutation_p.G251R|SLC9A8_uc010gid.2_Missense_Mutation_p.G175R	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	551						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CCTGCACCACGGGCGCATCCA	0.632												
NFATC2	4773	broad.mit.edu	37	20	50051813	50051813	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:50051813C>A	uc002xwd.2	-	8	2164	c.1944G>T	c.(1942-1944)AAG>AAT	p.K648N	NFATC2_uc002xwc.2_Missense_Mutation_p.K648N|NFATC2_uc010zyv.1_Missense_Mutation_p.K429N|NFATC2_uc010zyw.1_Missense_Mutation_p.K429N|NFATC2_uc010zyx.1_Missense_Mutation_p.K628N|NFATC2_uc010zyy.1_Missense_Mutation_p.K429N|NFATC2_uc010zyz.1_Missense_Mutation_p.K429N|NFATC2_uc002xwe.2_Missense_Mutation_p.K628N	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	648					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)					TGCGGATATGCTTGTTCCGAT	0.438												
NFATC2	4773	broad.mit.edu	37	20	50090640	50090640	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:50090640G>A	uc002xwd.2	-	5	1805	c.1585C>T	c.(1585-1587)CGG>TGG	p.R529W	NFATC2_uc002xwc.2_Missense_Mutation_p.R529W|NFATC2_uc010zyv.1_Missense_Mutation_p.R310W|NFATC2_uc010zyw.1_Missense_Mutation_p.R310W|NFATC2_uc010zyx.1_Missense_Mutation_p.R509W|NFATC2_uc010zyy.1_Missense_Mutation_p.R310W|NFATC2_uc010zyz.1_Missense_Mutation_p.R310W|NFATC2_uc002xwe.2_Missense_Mutation_p.R509W	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	529	RHD.				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)					TCGCCTTTCCGCAGCTCAATG	0.522												
ATP9A	10079	broad.mit.edu	37	20	50287727	50287727	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:50287727G>A	uc002xwg.1	-	12	1107	c.1107C>T	c.(1105-1107)CCC>CCT	p.P369P	ATP9A_uc010gih.1_Silent_p.P233P|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	369	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						CCACGGTCCCGGGGATTTTCG	0.547												
BCAS1	8537	broad.mit.edu	37	20	52612451	52612451	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:52612451T>C	uc002xws.2	-	5	1200	c.862A>G	c.(862-864)ATG>GTG	p.M288V	BCAS1_uc010zza.1_Missense_Mutation_p.M1V|BCAS1_uc010zzb.1_Missense_Mutation_p.M191V|BCAS1_uc010gim.2_Missense_Mutation_p.M191V|BCAS1_uc002xwt.2_Missense_Mutation_p.M288V|BCAS1_uc010gil.1_Missense_Mutation_p.M288V	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	288						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AAGAAACTCATGATGGAATTA	0.423												
C20orf43	51507	broad.mit.edu	37	20	55048423	55048423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:55048423C>T	uc002xxt.2	+	2	243	c.136C>T	c.(136-138)CGA>TGA	p.R46*	C20orf43_uc010zzf.1_Nonsense_Mutation_p.R76*|C20orf43_uc002xxu.2_Nonsense_Mutation_p.R46*|C20orf43_uc002xxv.2_Nonsense_Mutation_p.R46*	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	46										ovary(1)	1			Colorectal(105;0.202)			AATATTAAGACGACCAATAGT	0.318												
GNAS	2778	broad.mit.edu	37	20	57415433	57415433	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:57415433C>T	uc002xzt.2	+	1	639	c.272C>T	c.(271-273)GCA>GTA	p.A91V	GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	GNAS complex locus NESP55	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CACGAGGAGGCAGACCTTGAG	0.627			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
TH1L	51497	broad.mit.edu	37	20	57566041	57566041	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:57566041G>A	uc002yag.2	+	8	919	c.892G>A	c.(892-894)GCC>ACC	p.A298T	TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Missense_Mutation_p.A298T	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	TH1-like protein	298					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	all_lung(29;0.00711)		Colorectal(105;0.109)			GGCTCTCGGGGCCATGCTGTC	0.557												
SYCP2	10388	broad.mit.edu	37	20	58457217	58457217	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:58457217T>C	uc002yaz.2	-	26	2672	c.2533A>G	c.(2533-2535)AAA>GAA	p.K845E		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	845					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTCTGAACTTTTTcctgaaaa	0.139												
CDH4	1002	broad.mit.edu	37	20	60485530	60485530	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:60485530C>T	uc002ybn.1	+	9	1255	c.1241C>T	c.(1240-1242)ACG>ATG	p.T414M	CDH4_uc002ybp.1_Missense_Mutation_p.T340M	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	414	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCAAACCTCACGGTGATGGAC	0.542												
TAF4	6874	broad.mit.edu	37	20	60581702	60581702	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:60581702A>G	uc002ybs.2	-	7	2087	c.2087T>C	c.(2086-2088)GTG>GCG	p.V696A		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	696					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ACTCAGCACCACGGCCGTGAG	0.716												
LSM14B	149986	broad.mit.edu	37	20	60704864	60704864	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:60704864G>A	uc010gjy.1	+	4	657	c.451G>A	c.(451-453)GTC>ATC	p.V151I	LSM14B_uc010gjx.1_Missense_Mutation_p.V177I|LSM14B_uc002ybv.2_Missense_Mutation_p.V151I|LSM14B_uc010gjz.1_Missense_Mutation_p.V107I|LSM14B_uc010zzz.1_Missense_Mutation_p.V71I	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	151					multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			ATCCATCCCAGTCGGCAAGAG	0.512												
C20orf135	140701	broad.mit.edu	37	20	62493610	62493610	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:62493610G>A	uc002ygx.1	+	1	1045	c.717G>A	c.(715-717)GCG>GCA	p.A239A	TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	239							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCCCGCCCGCGCACCTGGTGG	0.682												
RGS19	10287	broad.mit.edu	37	20	62707974	62707974	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:62707974C>T	uc002yhy.2	-	3	323	c.56G>A	c.(55-57)CGG>CAG	p.R19Q	RGS19_uc002yhz.2_5'UTR|RGS19_uc002yia.2_Missense_Mutation_p.R19Q|RGS19_uc002yib.2_Missense_Mutation_p.R19Q	NM_005873	NP_005864	P49795	RGS19_HUMAN	G protein signalling regulator 19	19					autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			skin(1)	1	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGAAGGGGGCCGGTCCGCCTC	0.627												
OPRL1	4987	broad.mit.edu	37	20	62724254	62724254	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:62724254G>A	uc002yic.2	+	3	583	c.181G>A	c.(181-183)GTG>ATG	p.V61M	OPRL1_uc002yid.2_Missense_Mutation_p.V61M|OPRL1_uc002yif.3_Missense_Mutation_p.V61M	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	61	Helical; Name=1; (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CTACCTGGCCGTGTGTGTCGG	0.642												
APP	351	broad.mit.edu	37	21	27423391	27423391	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:27423391A>G	uc002ylz.2	-	5	787	c.587T>C	c.(586-588)GTG>GCG	p.V196A	APP_uc010glk.2_Missense_Mutation_p.V191A|APP_uc002yma.2_Missense_Mutation_p.V196A|APP_uc011ach.1_Missense_Mutation_p.V140A|APP_uc002ymb.2_Missense_Mutation_p.V196A|APP_uc010glj.2_Missense_Mutation_p.V140A|APP_uc011aci.1_Missense_Mutation_p.V161A|APP_uc011acj.1_Missense_Mutation_p.V196A	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	196	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				AGCAGAATCCACATTGTCACT	0.537												
DONSON	29980	broad.mit.edu	37	21	34958406	34958406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:34958406G>A	uc002ysk.2	-	3	551	c.484C>T	c.(484-486)CGA>TGA	p.R162*	DONSON_uc002ysn.1_Nonsense_Mutation_p.R45*|DONSON_uc002ysi.1_5'UTR|DONSON_uc002ysj.2_5'UTR|DONSON_uc002ysl.2_Intron|DONSON_uc010gme.2_Nonsense_Mutation_p.R135*|DONSON_uc002ysm.2_Nonsense_Mutation_p.R162*	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	162					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2						AAAAGGAGTCGCGTTTTAATA	0.433											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
ITSN1	6453	broad.mit.edu	37	21	35195929	35195929	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:35195929C>T	uc002yta.1	+	25	3423	c.3155C>T	c.(3154-3156)TCT>TTT	p.S1052F	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Intron|ITSN1_uc002ysz.2_Intron|ITSN1_uc010gmg.2_Intron|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Missense_Mutation_p.S1052F|ITSN1_uc010gmi.2_Missense_Mutation_p.S1015F|ITSN1_uc010gmj.2_Missense_Mutation_p.S931F|ITSN1_uc002ysy.2_Missense_Mutation_p.S1047F|ITSN1_uc002ysx.2_Missense_Mutation_p.S1010F|ITSN1_uc002ytb.1_Missense_Mutation_p.S1047F|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Intron|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Missense_Mutation_p.S1047F|ITSN1_uc010gmm.1_Intron|ITSN1_uc002yte.2_Intron|ITSN1_uc002ytg.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	1052	SH3 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4						GTCTTCCCTTCTAACTATGTG	0.468												
SETD4	54093	broad.mit.edu	37	21	37417922	37417922	+	Silent	SNP	G	G	A	rs145056271		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:37417922G>A	uc002yuw.1	-	5	2057	c.684C>T	c.(682-684)CTC>CTT	p.L228L	SETD4_uc002yux.1_Silent_p.L204L|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Silent_p.L228L|SETD4_uc002yuy.2_Silent_p.L228L|SETD4_uc002yuz.2_Silent_p.L204L|SETD4_uc002yva.2_Silent_p.L204L	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	228	SET.									large_intestine(1)|ovary(1)	2						GGTACGGAGCGAGTGCACAGG	0.592												
KCNJ6	3763	broad.mit.edu	37	21	39087018	39087018	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:39087018C>G	uc011aej.1	-	3	495	c.442G>C	c.(442-444)GAG>CAG	p.E148Q	KCNJ6_uc002ywo.2_Missense_Mutation_p.E148Q	NM_002240	NP_002231	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel J6	148					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1					Halothane(DB01159)	GTTTCTGTCTCTATTGAGAAT	0.468												
KCNJ15	3772	broad.mit.edu	37	21	39671474	39671474	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:39671474C>T	uc002ywv.2	+	4	593	c.291C>T	c.(289-291)CCC>CCT	p.P97P	KCNJ15_uc002yww.2_Silent_p.P97P|KCNJ15_uc002ywx.2_Silent_p.P97P	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	97	Extracellular (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						ACTTAGAACCCGGTGAGCCCA	0.483												
BRWD1	54014	broad.mit.edu	37	21	40627652	40627652	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr21:40627652C>T	uc002yxk.1	-	19	2313	c.2174G>A	c.(2173-2175)CGC>CAC	p.R725H	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.R725H|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.R178H|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_Intron|BRWD1_uc010goi.1_Missense_Mutation_p.R445H	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AATCTGACTGCGTGGAGCGTT	0.458												
IL17RA	23765	broad.mit.edu	37	22	17578808	17578808	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:17578808C>T	uc002zly.2	+	3	418	c.285C>T	c.(283-285)CAC>CAT	p.H95H	IL17RA_uc010gqt.2_Silent_p.H95H	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	95	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCGTGGCTCACATCGAATGGA	0.607												
SEPT5	5413	broad.mit.edu	37	22	19707904	19707904	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:19707904G>A	uc002zpv.1	+	6	549	c.424G>A	c.(424-426)GGC>AGC	p.G142S	SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'Flank	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	septin 5	142					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)					TGATGAGAGCGGCCTCAACCG	0.597												
KLHL22	84861	broad.mit.edu	37	22	20796677	20796677	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:20796677G>A	uc002zsl.1	-	7	1697	c.1588C>T	c.(1588-1590)CTC>TTC	p.L530F	KLHL22_uc011ahr.1_Missense_Mutation_p.L387F	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	530	Kelch 5.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCAGCAGGGAGTGGGCAGACA	0.612												
PRAME	23532	broad.mit.edu	37	22	22893468	22893468	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:22893468C>T	uc002zwf.2	-	3	221	c.65G>A	c.(64-66)AGC>AAC	p.S22N	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.S6N|PRAME_uc010gtr.2_Missense_Mutation_p.S22N|PRAME_uc002zwg.2_Missense_Mutation_p.S22N|PRAME_uc002zwh.2_Missense_Mutation_p.S22N|PRAME_uc002zwi.2_Missense_Mutation_p.S22N|PRAME_uc002zwj.2_Missense_Mutation_p.S22N|PRAME_uc002zwk.2_Missense_Mutation_p.S22N	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	22					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)		TCTCCGTGGGCTTGTCCACAC	0.577												
CYTSA	23384	broad.mit.edu	37	22	24810529	24810529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:24810529C>T	uc002zzw.2	+	17	3599	c.3292C>T	c.(3292-3294)CGA>TGA	p.R1098*	CYTSA_uc002zzv.3_Nonsense_Mutation_p.R1098*|CYTSA_uc011ajq.1_Nonsense_Mutation_p.R1059*	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	1098	CH.				cell cycle|cell division						0						ACGGACTGAACGACCCGACTG	0.557												
TFIP11	24144	broad.mit.edu	37	22	26895170	26895170	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:26895170T>G	uc003acr.2	-	8	1603	c.1229A>C	c.(1228-1230)AAG>ACG	p.K410T	TFIP11_uc003acs.2_Missense_Mutation_p.K410T|TFIP11_uc003act.2_Missense_Mutation_p.K410T	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	410					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTCATAGTACTTGTCCTGCAG	0.582												
ASCC2	84164	broad.mit.edu	37	22	30188437	30188437	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:30188437G>A	uc003agr.2	-	18	2112	c.2007C>T	c.(2005-2007)GAC>GAT	p.D669D	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Silent_p.D669D|ASCC2_uc011akr.1_Silent_p.D593D	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	669					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)			GAGCCTCCTCGTCAGCATCGT	0.582												
CCDC157	550631	broad.mit.edu	37	22	30771488	30771488	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:30771488G>A	uc011aku.1	+	10	2353	c.1693G>A	c.(1693-1695)GAA>AAA	p.E565K	CCDC157_uc011akv.1_Missense_Mutation_p.E565K|uc003aho.1_5'Flank	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	565										central_nervous_system(1)	1						CAGCAGCGTGGAATCCCAGAT	0.577												
MORC2	22880	broad.mit.edu	37	22	31333609	31333609	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:31333609G>A	uc003aje.1	-	16	2637	c.1273C>T	c.(1273-1275)CGC>TGC	p.R425C		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	487							ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2						GCTCTCCGGCGTTTGTAACGC	0.557												
LIMK2	3985	broad.mit.edu	37	22	31658139	31658139	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:31658139A>G	uc003akh.2	+	6	716	c.571A>G	c.(571-573)AGT>GGT	p.S191G	LIMK2_uc003akg.2_Missense_Mutation_p.S108G|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.S170G|LIMK2_uc003akk.2_Missense_Mutation_p.S170G|LIMK2_uc011aln.1_Missense_Mutation_p.S108G	NM_005569	NP_005560	P53671	LIMK2_HUMAN	LIM domain kinase 2 isoform 2a	191	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2						GATGCACATCAGTCCCAACAA	0.547												
APOL6	80830	broad.mit.edu	37	22	36054849	36054849	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:36054849G>A	uc003aoe.2	+	3	532	c.238G>A	c.(238-240)GTG>ATG	p.V80M	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	80					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0						GGCTAACATGGTGGCCACCTC	0.532												
APOL5	80831	broad.mit.edu	37	22	36122584	36122584	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:36122584G>A	uc003aof.2	+	3	469	c.469G>A	c.(469-471)GCC>ACC	p.A157T		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	157					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0						CCTGGGTTTGGCCCTAGCACC	0.562												
FOXRED2	80020	broad.mit.edu	37	22	36897391	36897391	+	Silent	SNP	G	G	A	rs144879175		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:36897391G>A	uc003apn.3	-	4	1221	c.1113C>T	c.(1111-1113)TAC>TAT	p.Y371Y	FOXRED2_uc003apm.3_5'Flank|FOXRED2_uc003apo.3_Silent_p.Y371Y|FOXRED2_uc003app.3_Silent_p.Y371Y	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	371					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						CTTTGGATTCGTAGCTAGCTC	0.527												
FOXRED2	80020	broad.mit.edu	37	22	36902129	36902129	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:36902129T>C	uc003apn.3	-	1	449	c.341A>G	c.(340-342)TAC>TGC	p.Y114C	FOXRED2_uc003apo.3_Missense_Mutation_p.Y114C|FOXRED2_uc003app.3_Missense_Mutation_p.Y114C	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	114					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			lung(1)|kidney(1)	2						GGCACGCGAGTAGTGTCTGAA	0.632												
CYTH4	27128	broad.mit.edu	37	22	37699442	37699442	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:37699442G>A	uc003arf.2	+	8	811	c.695G>A	c.(694-696)CGG>CAG	p.R232Q	CYTH4_uc003are.2_Missense_Mutation_p.R232Q|CYTH4_uc011amw.1_Missense_Mutation_p.R175Q|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	232	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GACCAGCTGCGGGTGAGAGAG	0.642												
TRIOBP	11078	broad.mit.edu	37	22	38120705	38120705	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:38120705C>A	uc003atr.2	+	7	2413	c.2142C>A	c.(2140-2142)ACC>ACA	p.T714T	TRIOBP_uc003atu.2_Silent_p.T542T|TRIOBP_uc003atq.1_Silent_p.T714T|TRIOBP_uc003ats.1_Silent_p.T542T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	714				RTTQQEN -> KSTFGCL (in Ref. 7; BAB33332).	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)					CTAACAGAACCACCCAACAAG	0.572												
TRIOBP	11078	broad.mit.edu	37	22	38121668	38121668	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:38121668C>T	uc003atr.2	+	7	3376	c.3105C>T	c.(3103-3105)CAC>CAT	p.H1035H	TRIOBP_uc003atu.2_Silent_p.H863H|TRIOBP_uc003atq.1_Silent_p.H1035H|TRIOBP_uc003ats.1_Silent_p.H863H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1035					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)					ATTTGCAGCACGACCCCTTCC	0.647												
KCNJ4	3761	broad.mit.edu	37	22	38824062	38824062	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:38824062C>T	uc003avs.1	-	2	173	c.76G>A	c.(76-78)GGC>AGC	p.G26S	KCNJ4_uc003avt.1_Missense_Mutation_p.G26S	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	26	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TTGCATTGGCCGTTCTTCTTG	0.637												
SUN2	25777	broad.mit.edu	37	22	39146312	39146312	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:39146312C>A	uc003awh.1	-	6	722	c.438G>T	c.(436-438)GTG>GTT	p.V146V	SUN2_uc011anz.1_Silent_p.V181V|SUN2_uc011aoa.1_Silent_p.V135V|SUN2_uc003awi.1_Silent_p.V146V|SUN2_uc010gxq.1_Silent_p.V167V|SUN2_uc010gxr.1_Silent_p.V146V|SUN2_uc010gxs.1_Silent_p.V146V	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	146	Nuclear.|Ser-rich.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2						TCTGCTGGTCCACATCCGAGT	0.617												
TAB1	10454	broad.mit.edu	37	22	39813774	39813774	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:39813774C>T	uc003axt.2	+	5	519	c.470C>T	c.(469-471)ACG>ATG	p.T157M	TAB1_uc003axr.2_Missense_Mutation_p.T233M|TAB1_uc011aok.1_Translation_Start_Site|TAB1_uc003axu.1_Missense_Mutation_p.T157M	NM_006116	NP_006107	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	157	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						AGACTCAAGACGTTAGAGAGG	0.567												
TNRC6B	23112	broad.mit.edu	37	22	40711509	40711509	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:40711509C>T	uc011aor.1	+	20	5112	c.4901C>T	c.(4900-4902)TCG>TTG	p.S1634L	TNRC6B_uc003aym.2_Missense_Mutation_p.S830L|TNRC6B_uc003ayn.3_Missense_Mutation_p.S1524L|TNRC6B_uc003ayo.2_Missense_Mutation_p.S1381L	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1634					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						CGGCTCGCCTCGGGTGAGGAG	0.562												
EP300	2033	broad.mit.edu	37	22	41527551	41527551	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:41527551C>T	uc003azl.3	+	6	1837	c.1442C>T	c.(1441-1443)CCG>CTG	p.P481L		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	481					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						AATCAGATGCCGACACAACCC	0.517			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
POLDIP3	84271	broad.mit.edu	37	22	42981828	42981828	+	Missense_Mutation	SNP	G	G	A	rs113566870		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:42981828G>A	uc003bcu.2	-	9	1334	c.1235C>T	c.(1234-1236)ACG>ATG	p.T412M	POLDIP3_uc011app.1_3'UTR|POLDIP3_uc003bcv.2_Missense_Mutation_p.T383M|POLDIP3_uc011apq.1_Missense_Mutation_p.T429M|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Intron	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	DNA polymerase delta interacting protein 3	412					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding				0						TGTGGGCTGCGTGGTCACAGA	0.587												
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45128176	45128176	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:45128176A>G	uc003bfd.2	+	6	732	c.460A>G	c.(460-462)AAT>GAT	p.N154D	PRR5_uc003bew.1_Missense_Mutation_p.N145D|PRR5_uc003bex.1_Missense_Mutation_p.N59D|PRR5_uc010gzt.1_Missense_Mutation_p.N177D|PRR5_uc010gzu.1_Missense_Mutation_p.N118D|PRR5_uc003bey.1_Missense_Mutation_p.N145D|PRR5_uc003bez.1_Missense_Mutation_p.N59D|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.N47D|PRR5_uc003bfb.1_Missense_Mutation_p.N154D|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.N53D	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						GCACTTCCGGAATGCCATCAC	0.667												
ATXN10	25814	broad.mit.edu	37	22	46096163	46096163	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:46096163T>C	uc003bgm.1	+	4	650	c.393T>C	c.(391-393)GCT>GCC	p.A131A	ATXN10_uc011aqt.1_Silent_p.A67A|ATXN10_uc003bgn.1_5'UTR	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	131					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TATTCTTAGCTTTTCGCTGTG	0.303												
BRD1	23774	broad.mit.edu	37	22	50217190	50217190	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:50217190C>T	uc003biv.2	-	1	1263	c.776G>A	c.(775-777)CGC>CAC	p.R259H	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.R259H|BRD1_uc011arh.1_Missense_Mutation_p.R259H|BRD1_uc003biu.3_Missense_Mutation_p.R259H	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	259	PHD-type.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGGCAGTGGCGGCAGAGCCA	0.647												
SBF1	6305	broad.mit.edu	37	22	50900529	50900529	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:50900529C>T	uc003blh.2	-	20	2611	c.2416G>A	c.(2416-2418)GAG>AAG	p.E806K	SBF1_uc011arx.1_Missense_Mutation_p.E470K|SBF1_uc003bli.2_Missense_Mutation_p.E807K	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	806					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)		TCATAGCTCTCGGCCACACTG	0.652												
SHANK3	85358	broad.mit.edu	37	22	51160646	51160646	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:51160646G>A	uc003bne.1	+	22	4433	c.4433G>A	c.(4432-4434)CGC>CAC	p.R1478H	SHANK3_uc003bnf.1_Missense_Mutation_p.R925H|SHANK3_uc010hbg.1_Missense_Mutation_p.R660H	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1478										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGCCTGCCCGCCCTCGCTAC	0.677												
RABL2B	11158	broad.mit.edu	37	22	51208372	51208372	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:51208372G>A	uc003bno.1	-	6	586	c.370C>T	c.(370-372)CCA>TCA	p.P124S	RPL23AP82_uc011asd.1_Intron|RPL23AP82_uc003bni.2_Intron|RABL2B_uc011ase.1_Intron|RABL2B_uc003bnm.1_Missense_Mutation_p.P124S|RABL2B_uc011asf.1_Missense_Mutation_p.P124S|RABL2B_uc003bnn.1_Missense_Mutation_p.P124S|RABL2B_uc003bnk.1_Missense_Mutation_p.P124S|RABL2B_uc011asg.1_Missense_Mutation_p.P124S|RABL2B_uc003bnl.1_Missense_Mutation_p.P124S|RABL2B_uc011ash.1_Intron	NM_001130922	NP_001124394	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	124					small GTPase mediated signal transduction		GTP binding|GTPase activity				0		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)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		GGGATCTCTGGCCTGAACTCC	0.512												
SRGAP3	9901	broad.mit.edu	37	3	9097969	9097969	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:9097969C>T	uc003brf.1	-	8	1749	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H	SRGAP3_uc003brg.1_Missense_Mutation_p.R358H|SRGAP3_uc003bri.1_RNA|SRGAP3_uc003brj.1_Missense_Mutation_p.R218H	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	358	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)		CTGGTGATAACGCATGAGCAG	0.557			T	RAF1	pilocytic astrocytoma							
SETD5	55209	broad.mit.edu	37	3	9483391	9483391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:9483391C>T	uc003brt.2	+	9	1360	c.925C>T	c.(925-927)CAG>TAG	p.Q309*	SETD5_uc003brs.1_Nonsense_Mutation_p.Q290*|SETD5_uc003bru.2_Nonsense_Mutation_p.Q211*|SETD5_uc003brv.2_Nonsense_Mutation_p.Q198*|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	309	SET.									ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CATGTTACGACAGCAATTTGA	0.438												
KCNH8	131096	broad.mit.edu	37	3	19559535	19559535	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:19559535C>G	uc003cbk.1	+	15	2783	c.2588C>G	c.(2587-2589)ACC>AGC	p.T863S	KCNH8_uc010hex.1_Missense_Mutation_p.T324S	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	863	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						GCAGAGGAGACCAAGCAGCAG	0.403												
NKIRAS1	28512	broad.mit.edu	37	3	23942333	23942333	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:23942333T>C	uc003ccj.2	-	4	704	c.302A>G	c.(301-303)AAG>AGG	p.K101R	NKIRAS1_uc003cck.2_Missense_Mutation_p.K101R|NKIRAS1_uc003ccl.2_Missense_Mutation_p.K101R|NKIRAS1_uc003ccm.2_Missense_Mutation_p.K101R	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	kappa B-ras 1	101					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity				0						GATTTCTTTCTTCAGAAGCTC	0.353												
SCN5A	6331	broad.mit.edu	37	3	38622836	38622836	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:38622836C>T	uc003cio.2	-	17	3008	c.2814G>A	c.(2812-2814)CTG>CTA	p.L938L	SCN5A_uc003cin.2_Silent_p.L938L|SCN5A_uc003cil.3_Silent_p.L938L|SCN5A_uc010hhi.2_Silent_p.L938L|SCN5A_uc010hhk.2_Silent_p.L938L|SCN5A_uc011ayr.1_Silent_p.L938L|SCN5A_uc010hhj.1_Silent_p.L549L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	938	Helical; Name=S6 of repeat II; (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)	AGGAGCTGAGCAGCAAGGCCA	0.522												
SCN10A	6336	broad.mit.edu	37	3	38739984	38739984	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:38739984C>T	uc003ciq.2	-	27	4727	c.4727G>A	c.(4726-4728)CGC>CAC	p.R1576H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1576	IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCGGGCCAGGCGGATGACTCT	0.493												
SCN10A	6336	broad.mit.edu	37	3	38768416	38768416	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:38768416C>T	uc003ciq.2	-	16	2768	c.2768G>A	c.(2767-2769)CGT>CAT	p.R923H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	923					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGTTTGGTACGATGGCCAAA	0.592												
SCN11A	11280	broad.mit.edu	37	3	38950583	38950583	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:38950583C>G	uc011ays.1	-	9	1403	c.1204G>C	c.(1204-1206)GCA>CCA	p.A402P		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	402	I.|Helical; Name=S6 of repeat I; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCCTCATATGCCATGGTAACA	0.473												
SCN11A	11280	broad.mit.edu	37	3	38950604	38950604	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:38950604T>G	uc011ays.1	-	9	1382	c.1183A>C	c.(1183-1185)ACC>CCC	p.T395P		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	395	I.|Helical; Name=S6 of repeat I; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ACAGCCAGGGTTAAGTTAATC	0.478												
ANO10	55129	broad.mit.edu	37	3	43596770	43596770	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:43596770C>A	uc003cmv.2	-	10	1839	c.1668G>T	c.(1666-1668)CAG>CAT	p.Q556H	ANO10_uc011azs.1_Missense_Mutation_p.Q556H|ANO10_uc003cmw.2_Missense_Mutation_p.Q490H|ANO10_uc010hil.2_Missense_Mutation_p.Q366H|ANO10_uc011azt.1_Missense_Mutation_p.Q445H	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	556	Helical; (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						AAACAATTACCTGCCACACAC	0.303												
ZNF445	353274	broad.mit.edu	37	3	44490207	44490207	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:44490207T>C	uc003cnf.2	-	8	1304	c.956A>G	c.(955-957)AAC>AGC	p.N319S	ZNF445_uc011azv.1_Missense_Mutation_p.N307S|ZNF445_uc011azw.1_Missense_Mutation_p.N319S	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	319					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GATGAATTTGTTTGTTTTACT	0.408												
ZNF35	7584	broad.mit.edu	37	3	44700257	44700257	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:44700257A>C	uc003cnq.2	+	4	623	c.402A>C	c.(400-402)AAA>AAC	p.K134N	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	134	Globular domain.				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)		AAGCTGAAAAACCCCTCATCA	0.393												
CLEC3B	7123	broad.mit.edu	37	3	45077258	45077258	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:45077258C>T	uc003cok.3	+	3	547	c.451C>T	c.(451-453)CGC>TGC	p.R151C	CLEC3B_uc003col.2_Missense_Mutation_p.R109C	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	151	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACCGGCGCCCGCATCGCCTA	0.662												
XCR1	2829	broad.mit.edu	37	3	46062922	46062922	+	Missense_Mutation	SNP	G	G	A	rs78405233	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:46062922G>A	uc003cpe.2	-	3	742	c.518C>T	c.(517-519)TCG>TTG	p.S173L	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.S173L	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	173	Extracellular (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ATCACAGCCCGAAGAAAGCAC	0.577												
CCR3	1232	broad.mit.edu	37	3	46307587	46307587	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:46307587G>A	uc003cpg.1	+	4	1481	c.938G>A	c.(937-939)CGC>CAC	p.R313H	CCR3_uc003cpi.1_Missense_Mutation_p.R313H|CCR3_uc003cpj.1_Missense_Mutation_p.R313H|CCR3_uc003cpk.1_Missense_Mutation_p.R334H|CCR3_uc010hjb.1_Missense_Mutation_p.R331H|CCR3_uc003cpl.1_Missense_Mutation_p.R346H	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	313	Cytoplasmic (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AAGTACCTGCGCCACTTCTTC	0.547												
LRRC2	79442	broad.mit.edu	37	3	46560523	46560523	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:46560523G>T	uc010hji.2	-	9	1461	c.1097C>A	c.(1096-1098)TCT>TAT	p.S366Y	LRRC2_uc003cpu.3_Missense_Mutation_p.S366Y	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	366										ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AAGGCTAAAAGACACTTTGGT	0.338												
NBEAL2	23218	broad.mit.edu	37	3	47037022	47037022	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:47037022A>G	uc003cqp.2	+	13	1976	c.1797A>G	c.(1795-1797)CCA>CCG	p.P599P	NBEAL2_uc003cqq.1_Silent_p.P565P|NBEAL2_uc010hjm.1_Silent_p.P160P	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	599							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGCGATGGCCAGGGCCTGGCT	0.627												
CELSR3	1951	broad.mit.edu	37	3	48696844	48696844	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:48696844C>A	uc003cul.2	-	1	3505	c.3224G>T	c.(3223-3225)CGG>CTG	p.R1075L	CELSR3_uc003cuf.1_Missense_Mutation_p.R1145L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1075	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.R1075R(1)		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)		CTCTTTCACCCGCACCTCAAA	0.557												
LAMB2	3913	broad.mit.edu	37	3	49160752	49160752	+	Missense_Mutation	SNP	C	C	T	rs149144377		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:49160752C>T	uc003cwe.2	-	26	4336	c.4037G>A	c.(4036-4038)CGT>CAT	p.R1346H	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1346	Domain II.				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)		GGTATTGGCACGACGTTCTGC	0.577												
APEH	327	broad.mit.edu	37	3	49716378	49716378	+	Missense_Mutation	SNP	G	G	A	rs145125345		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:49716378G>A	uc003cxf.2	+	12	1554	c.1154G>A	c.(1153-1155)CGG>CAG	p.R385Q	APEH_uc010hkw.1_Missense_Mutation_p.R385Q	NM_001640	NP_001631	P13798	ACPH_HUMAN	N-acylaminoacyl-peptide hydrolase	385					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)		CAGCGCAGCCGGCAGGTGAGG	0.607												
HEMK1	51409	broad.mit.edu	37	3	50617831	50617831	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:50617831C>T	uc003dau.2	+	11	1296	c.1000C>T	c.(1000-1002)CGG>TGG	p.R334W	HEMK1_uc003dav.2_Missense_Mutation_p.R334W|HEMK1_uc003daw.2_Missense_Mutation_p.R334W	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	334					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CCTGCATATCCGGAGGTCTGG	0.617												
PPM1M	132160	broad.mit.edu	37	3	52282240	52282240	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:52282240G>A	uc003ddf.3	+	5	664	c.299G>A	c.(298-300)CGG>CAG	p.R100Q	PPM1M_uc011bed.1_Missense_Mutation_p.R261Q|PPM1M_uc010hmd.2_Missense_Mutation_p.R100Q|PPM1M_uc003ddg.3_Missense_Mutation_p.R49Q|PPM1M_uc003ddh.3_5'Flank			Q96MI6	PPM1M_HUMAN	RecName: Full=Protein phosphatase 1M;          EC=3.1.3.16; AltName: Full=Protein phosphatase 2C isoform eta;          Short=PP2C-eta;          Short=PP2CE;	100	PP2C-like.				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding				0				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GAGCGGCAGCGGATCCAGCAG	0.592												
GLT8D1	55830	broad.mit.edu	37	3	52730630	52730630	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:52730630A>C	uc003dfi.3	-	5	514	c.375T>G	c.(373-375)ATT>ATG	p.I125M	GLT8D1_uc003dfj.2_Missense_Mutation_p.I125M|GLT8D1_uc003dfk.2_Missense_Mutation_p.I125M|GLT8D1_uc003dfl.2_Missense_Mutation_p.I125M|GLT8D1_uc003dfm.2_Missense_Mutation_p.I125M|GLT8D1_uc003dfn.2_Missense_Mutation_p.I125M|GLT8D1_uc003dfo.1_Missense_Mutation_p.I125M	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	125	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAAAATTGACAATTTTGTATC	0.393												
ITIH4	3700	broad.mit.edu	37	3	52860835	52860835	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:52860835C>T	uc003dfz.2	-	4	527	c.491G>A	c.(490-492)CGG>CAG	p.R164Q	ITIH4_uc011bel.1_5'Flank|ITIH4_uc003dfy.2_Missense_Mutation_p.R40Q|ITIH4_uc011bem.1_Missense_Mutation_p.R164Q|ITIH4_uc011ben.1_Missense_Mutation_p.R164Q	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	164					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGCTGGGGCCGCACTTTCAG	0.612												
PRKCD	5580	broad.mit.edu	37	3	53212511	53212511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:53212511C>T	uc003dgl.2	+	3	426	c.73C>T	c.(73-75)CAG>TAG	p.Q25*	PRKCD_uc003dgm.2_Nonsense_Mutation_p.Q25*|PRKCD_uc003dgn.2_Nonsense_Mutation_p.Q25*	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	25	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CGAGGCGAACCAGCCCTTCTG	0.657												
CACNA1D	776	broad.mit.edu	37	3	53783318	53783318	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:53783318C>T	uc003dgv.3	+	27	3501	c.3338C>T	c.(3337-3339)TCG>TTG	p.S1113L	CACNA1D_uc003dgu.3_Missense_Mutation_p.S1133L|CACNA1D_uc003dgy.3_Missense_Mutation_p.S1113L|CACNA1D_uc003dgw.3_Missense_Mutation_p.S780L|CACNA1D_uc003dgx.1_Missense_Mutation_p.S261L	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1113	Extracellular (Potential).|Dihydropyridine binding (By similarity).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCCATCGACTCGAATGGAGAG	0.522												
ERC2	26059	broad.mit.edu	37	3	56468581	56468581	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:56468581G>A	uc003dhr.1	-	2	711	c.455C>T	c.(454-456)GCC>GTC	p.A152V		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	152	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTTCAGCTGGGCCTGAAGATC	0.493												
PDE12	201626	broad.mit.edu	37	3	57545470	57545470	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:57545470C>T	uc003diw.3	+	3	1695	c.1569C>T	c.(1567-1569)TCC>TCT	p.S523S	PDE12_uc003div.2_3'UTR	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	523							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACTGGGCTTCCAATGGGGAGG	0.408												
FLNB	2317	broad.mit.edu	37	3	58089736	58089736	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:58089736G>A	uc003djj.2	+	10	1699	c.1534G>A	c.(1534-1536)GCA>ACA	p.A512T	FLNB_uc010hne.2_Missense_Mutation_p.A512T|FLNB_uc003djk.2_Missense_Mutation_p.A512T|FLNB_uc010hnf.2_Missense_Mutation_p.A512T|FLNB_uc003djl.2_Missense_Mutation_p.A343T|FLNB_uc003djm.2_Missense_Mutation_p.A343T	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	512	Filamin 3.				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)		TGGGGTCTACGCATTCGAGTA	0.537												
FAM107A	11170	broad.mit.edu	37	3	58552332	58552332	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:58552332C>T	uc003dkm.2	-	5	977	c.418G>A	c.(418-420)GAA>AAA	p.E140K	FAM107A_uc003dko.2_Missense_Mutation_p.E171K|FAM107A_uc003dkn.2_Missense_Mutation_p.E140K|FAM107A_uc010hnm.2_Missense_Mutation_p.E168K|FAM107A_uc003dkp.1_3'UTR	NM_007177	NP_009108	O95990	F107A_HUMAN	downregulated in renal cell carcinoma	140					regulation of cell growth	nucleus	protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		TCTCTCTCTTCGCTGGTCAGT	0.602												
C3orf67	200844	broad.mit.edu	37	3	58792166	58792166	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:58792166C>T	uc003dkt.1	-	14	1848	c.1439G>A	c.(1438-1440)CGC>CAC	p.R480H	C3orf67_uc003dkr.1_RNA|C3orf67_uc003dks.1_Missense_Mutation_p.R421H	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	485											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGATAGTGGCGACCCTGGTT	0.358												
PTPRG	5793	broad.mit.edu	37	3	61975386	61975386	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:61975386C>T	uc003dlb.2	+	3	997	c.278C>T	c.(277-279)GCG>GTG	p.A93V	PTPRG_uc003dlc.2_Missense_Mutation_p.A93V	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	93	Extracellular (Potential).|Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GACCAGTATGCGCGTGTTGGG	0.488												
ADAMTS9	56999	broad.mit.edu	37	3	64580089	64580089	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:64580089C>A	uc003dmg.2	-	28	4233	c.4201G>T	c.(4201-4203)GGC>TGC	p.G1401C	ADAMTS9_uc011bfo.1_Missense_Mutation_p.G1373C|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G1230C|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G312C	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1401	TSP type-1 10.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTTCTTATGCCTCCACCACAC	0.458												
LRIG1	26018	broad.mit.edu	37	3	66467568	66467568	+	Missense_Mutation	SNP	G	G	A	rs146856805	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:66467568G>A	uc003dmx.2	-	4	502	c.488C>T	c.(487-489)CCG>CTG	p.P163L	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.P163L	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	163	Extracellular (Potential).					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTTTATAGGCGGTCCGTGTGG	0.557												
FOXP1	27086	broad.mit.edu	37	3	71247446	71247446	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:71247446G>A	uc003dol.2	-	2	410	c.87C>T	c.(85-87)TGC>TGT	p.C29C	FOXP1_uc003dom.2_Silent_p.C29C|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.C29C|FOXP1_uc003dop.2_Silent_p.C29C|FOXP1_uc003doq.1_Silent_p.C29C|FOXP1_uc003dos.2_Silent_p.C29C	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	29					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GAAGACCGCCGCACTCTAGTA	0.602			T	PAX5	ALL							
VGLL3	389136	broad.mit.edu	37	3	87027842	87027842	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:87027842G>A	uc003dqn.2	-	2	601	c.237C>T	c.(235-237)GCC>GCT	p.A79A		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ACTCCATCTCGGCAGGCTGGt	0.408												
COL8A1	1295	broad.mit.edu	37	3	99514689	99514689	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:99514689G>A	uc003dtg.1	+	5	2189	c.1944G>A	c.(1942-1944)CCG>CCA	p.P648P	COL8A1_uc003dth.1_Silent_p.P648P|COL8A1_uc003dti.1_Silent_p.P649P	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	648	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						ACTACAACCCGCAGACAGGCA	0.537												
FAM55C	91775	broad.mit.edu	37	3	101504476	101504476	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:101504476C>T	uc003dvn.2	+	4	673	c.36C>T	c.(34-36)TGC>TGT	p.C12C	FAM55C_uc010hpn.2_Silent_p.C12C	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	12						extracellular region				ovary(1)|pancreas(1)|skin(1)	3						GGCTTTTCTGCTGTCTGCTTG	0.473												
KIAA1524	57650	broad.mit.edu	37	3	108295157	108295157	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:108295157T>C	uc003dxb.3	-	8	1124	c.855A>G	c.(853-855)TTA>TTG	p.L285L	KIAA1524_uc003dxc.1_Silent_p.L126L|KIAA1524_uc010hpw.1_Silent_p.L126L	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	285						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3						TAAGAAGACCTAATACTTGGT	0.279												
CCDC80	151887	broad.mit.edu	37	3	112357212	112357212	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:112357212C>T	uc003dzf.2	-	2	1759	c.1541G>A	c.(1540-1542)CGG>CAG	p.R514Q	CCDC80_uc011bhv.1_Missense_Mutation_p.R514Q|CCDC80_uc003dzg.2_Missense_Mutation_p.R514Q|CCDC80_uc003dzh.1_Missense_Mutation_p.R514Q	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	514	Lys-rich.									ovary(2)	2						GGCAGTAGGCCGGCTGAGGTC	0.488												
KIAA2018	205717	broad.mit.edu	37	3	113376015	113376015	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:113376015T>C	uc003eam.2	-	7	4925	c.4514A>G	c.(4513-4515)CAG>CGG	p.Q1505R	KIAA2018_uc003eal.2_Missense_Mutation_p.Q1449R	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1505	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						ATTATGGGGCTGAGAGTGGAC	0.433												
KIAA2018	205717	broad.mit.edu	37	3	113376613	113376613	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:113376613T>C	uc003eam.2	-	7	4327	c.3916A>G	c.(3916-3918)ACC>GCC	p.T1306A	KIAA2018_uc003eal.2_Missense_Mutation_p.T1250A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1306					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						TTTGGTATGGTACTAGTCATA	0.438												
SEMA5B	54437	broad.mit.edu	37	3	122647874	122647874	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:122647874C>T	uc003efz.1	-	6	810	c.506G>A	c.(505-507)CGC>CAC	p.R169H	SEMA5B_uc011bju.1_Missense_Mutation_p.R111H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R169H|SEMA5B_uc010hro.1_Missense_Mutation_p.R111H|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	169	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GCAGGAGCGGCGCGTGTCCTC	0.617												
KALRN	8997	broad.mit.edu	37	3	124377290	124377290	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:124377290C>T	uc003ehg.2	+	42	6173	c.6046C>T	c.(6046-6048)CAC>TAC	p.H2016Y	KALRN_uc003ehi.2_Missense_Mutation_p.H357Y|KALRN_uc003ehk.2_Missense_Mutation_p.H319Y|KALRN_uc011bjz.1_Missense_Mutation_p.H108Y	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2015	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GCGGAAGCTGCACATCTACGT	0.512												
KLF15	28999	broad.mit.edu	37	3	126071347	126071347	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:126071347G>A	uc011bkk.1	-	2	601	c.419C>T	c.(418-420)ACC>ATC	p.T140I		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	140						nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		CTCCTCCAGGGTAGGCTGGAA	0.602												
MCM2	4171	broad.mit.edu	37	3	127323460	127323460	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:127323460C>T	uc003ejp.2	+	3	303	c.246C>T	c.(244-246)CGC>CGT	p.R82R	MCM2_uc011bkm.1_5'UTR|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_5'UTR	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	82	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						GGGACTACCGCGCCATCCCAG	0.592												
COL6A6	131873	broad.mit.edu	37	3	130289784	130289784	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:130289784G>A	uc010htl.2	+	6	2555	c.2524G>A	c.(2524-2526)GGC>AGC	p.G842S		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	842	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AGCTGATGTGGGCAAGAATCA	0.413												
DBR1	51163	broad.mit.edu	37	3	137886142	137886142	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:137886142C>T	uc003erv.2	-	5	631	c.495G>A	c.(493-495)AAG>AAA	p.K165K	DBR1_uc003eru.2_Silent_p.K114K	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	165						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						CTATAGGCTGCTTCAGCTTTC	0.343												
ATP1B3	483	broad.mit.edu	37	3	141626091	141626091	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:141626091T>C	uc003eug.1	+	3	495	c.321T>C	c.(319-321)ATT>ATC	p.I107I	ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Silent_p.I93I	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Na+/K+ -ATPase beta 3 subunit	107	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity				0						CAGGGTACATTGAAGACCTTA	0.333												
PAQR9	344838	broad.mit.edu	37	3	142681357	142681357	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:142681357G>T	uc003evg.2	-	1	822	c.822C>A	c.(820-822)TTC>TTA	p.F274L	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	274	Extracellular (Potential).					integral to membrane	receptor activity				0						AGAAGTGCACGAAGAGTGTGG	0.607												
SR140	23350	broad.mit.edu	37	3	142735133	142735133	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:142735133A>G	uc003evh.1	+	5	455	c.356A>G	c.(355-357)GAG>GGG	p.E119G	SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.E119G|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.E119G	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	119	Potential.				RNA processing	nucleus	nucleotide binding|RNA binding				0						ATTTATGAGGAGTTTCTTGCT	0.328												
CHST2	9435	broad.mit.edu	37	3	142840509	142840509	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:142840509C>T	uc003evm.2	+	2	1740	c.851C>T	c.(850-852)CCG>CTG	p.P284L		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	284	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						AAGAAGTGCCCGCCACAGCGC	0.652												
P2RY13	53829	broad.mit.edu	37	3	151046205	151046205	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:151046205G>A	uc003eyv.2	-	2	660	c.639C>T	c.(637-639)TGC>TGT	p.C213C	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	213	Helical; Name=5; (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AAATAAACTGGCATATGTTAT	0.368												
IGSF10	285313	broad.mit.edu	37	3	151164416	151164416	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:151164416C>A	uc011bod.1	-	4	3353	c.3353G>T	c.(3352-3354)AGT>ATT	p.S1118I		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1118					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCTCTACACTGGGTTTGTT	0.438												
DHX36	170506	broad.mit.edu	37	3	154002773	154002773	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:154002773C>T	uc003ezy.3	-	18	2116	c.2035G>A	c.(2035-2037)GCT>ACT	p.A679T	DHX36_uc010hvq.2_Missense_Mutation_p.A665T|DHX36_uc003ezz.3_Missense_Mutation_p.A679T	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	679						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTATCCAAAGCGTTCTGTAAA	0.368												
DHX36	170506	broad.mit.edu	37	3	154010350	154010350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:154010350G>A	uc003ezy.3	-	15	1885	c.1804C>T	c.(1804-1806)CGA>TGA	p.R602*	DHX36_uc010hvq.2_Nonsense_Mutation_p.R588*|DHX36_uc003ezz.3_Nonsense_Mutation_p.R602*	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	602	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTTCCAGCTCGACCTTTTCTC	0.358												
CCNL1	57018	broad.mit.edu	37	3	156867109	156867109	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:156867109C>T	uc003fbf.2	-	10	1798	c.1199G>A	c.(1198-1200)CGA>CAA	p.R400Q	CCNL1_uc003fbd.1_Missense_Mutation_p.R400Q|CCNL1_uc003fbe.2_Missense_Mutation_p.R194Q|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA|CCNL1_uc003fbi.1_Missense_Mutation_p.R245Q	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	400	RS.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			lung(3)|breast(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGAACGTGATCGTGTTCTTGA	0.338												
SI	6476	broad.mit.edu	37	3	164739135	164739135	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:164739135C>T	uc003fei.2	-	27	3198	c.3136G>A	c.(3136-3138)GTA>ATA	p.V1046I		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1046	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTAACGGTACTGGTACTTCA	0.358										HNSCC(35;0.089)		
LRRIQ4	344657	broad.mit.edu	37	3	169548401	169548401	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:169548401C>T	uc003fgb.2	+	3	1316	c.1316C>T	c.(1315-1317)GCC>GTC	p.A439V		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	439	LRR 18.										0						CTTCCAGATGCCATTTGCCAA	0.463												
HTR3E	285242	broad.mit.edu	37	3	183824060	183824060	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:183824060C>T	uc010hxq.2	+	8	1536	c.1070C>T	c.(1069-1071)CCG>CTG	p.P357L	HTR3E_uc003fml.3_Missense_Mutation_p.P342L|HTR3E_uc003fmm.2_Missense_Mutation_p.P372L|HTR3E_uc010hxr.2_Missense_Mutation_p.P383L|HTR3E_uc003fmn.2_Missense_Mutation_p.P357L	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	357	Cytoplasmic (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGCAACAGCCCGGGGAGATGC	0.617												
ABCF3	55324	broad.mit.edu	37	3	183908909	183908909	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:183908909A>G	uc003fmz.2	+	16	1570	c.1437_splice	c.e16-2	p.K479_splice	ABCF3_uc003fna.2_Splice_Site_p.K473_splice|ABCF3_uc003fnb.2_Splice_Site_p.K160_splice	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),								ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACCTCCTGCAGGTTCCCTGA	0.547												
CLCN2	1181	broad.mit.edu	37	3	184073564	184073564	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:184073564C>T	uc003foi.2	-	11	1212	c.1088G>A	c.(1087-1089)CGC>CAC	p.R363H	CLCN2_uc003foh.2_5'UTR|CLCN2_uc010hya.1_Missense_Mutation_p.R363H|CLCN2_uc011brl.1_Missense_Mutation_p.R363H|CLCN2_uc011brm.1_Missense_Mutation_p.R319H|CLCN2_uc011brn.1_Missense_Mutation_p.R363H	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	363	Helical; (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GAAGAGCAGGCGTCTAGAGTC	0.587												
VPS8	23355	broad.mit.edu	37	3	184550540	184550540	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:184550540G>A	uc003fpb.1	+	4	457	c.286G>A	c.(286-288)GAT>AAT	p.D96N	VPS8_uc010hyd.1_Missense_Mutation_p.D96N|VPS8_uc003fpc.1_Missense_Mutation_p.D96N	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	96							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGATACTATTGATTCTCACTC	0.343												
MAP3K13	9175	broad.mit.edu	37	3	185183551	185183551	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:185183551C>T	uc010hyf.2	+	10	1671	c.1405C>T	c.(1405-1407)CGT>TGT	p.R469C	MAP3K13_uc011brt.1_Missense_Mutation_p.R262C|MAP3K13_uc011bru.1_Missense_Mutation_p.R325C|MAP3K13_uc003fpi.2_Missense_Mutation_p.R469C|MAP3K13_uc010hyg.2_Missense_Mutation_p.R159C	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	469					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GCTGGATATTCGTGAACACTA	0.463												
ADIPOQ	9370	broad.mit.edu	37	3	186571971	186571971	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:186571971A>G	uc003fra.2	+	3	299	c.215_splice	c.e3-2	p.G72_splice	ADIPOQ_uc010hyy.2_Splice_Site_p.G72_splice	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	adiponectin precursor						brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			ovary(1)	1	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CTCATTCCTTAGGTCTTATTG	0.522												
RTP1	132112	broad.mit.edu	37	3	186917577	186917577	+	Missense_Mutation	SNP	G	G	A	rs141818025	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:186917577G>A	uc003frg.2	+	2	541	c.511G>A	c.(511-513)GGC>AGC	p.G171S		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	171	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			ovary(2)|breast(1)	3	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGAGCGTGGCGGCCAGTACCG	0.687												
TFRC	7037	broad.mit.edu	37	3	195789785	195789785	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:195789785A>G	uc003fvz.3	-	12	1627	c.1344T>C	c.(1342-1344)ATT>ATC	p.I448I	TFRC_uc003fwa.3_Silent_p.I448I|TFRC_uc010hzy.2_Silent_p.I367I|TFRC_uc011btr.1_Silent_p.I166I	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	448	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TGGCAAAGATAATGCTTCTGC	0.448			T	BCL6	NHL							
TM4SF19	116211	broad.mit.edu	37	3	196054330	196054330	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:196054330G>A	uc003fwl.1	-	2	257	c.132C>T	c.(130-132)ACC>ACT	p.T44T	TM4SF19_uc003fwj.2_RNA|TM4SF19_uc010iad.1_Silent_p.T44T|TM4SF19_uc011btv.1_Silent_p.T44T	NM_138461	NP_612470	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	44	Extracellular (Potential).					integral to membrane					0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TCAACAGGTAGGTGACATCCC	0.612												
BDH1	622	broad.mit.edu	37	3	197241135	197241135	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:197241135C>A	uc003fxr.2	-	7	964	c.562G>T	c.(562-564)GGC>TGC	p.G188C	BDH1_uc003fxs.2_Missense_Mutation_p.G188C|BDH1_uc003fxt.2_Missense_Mutation_p.G101C|BDH1_uc003fxu.2_Missense_Mutation_p.G188C	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	188					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TCCCACTCACCTTTGGCCCTT	0.562												
ZNF721	170960	broad.mit.edu	37	4	438000	438000	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:438000G>A	uc003gag.2	-	3	947	c.256C>T	c.(256-258)CGT>TGT	p.R86C	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.R118C|ZNF721_uc010ibe.2_Missense_Mutation_p.R74C	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	86						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						ACTTTGACACGTGCATTACAT	0.313												
DOK7	285489	broad.mit.edu	37	4	3495067	3495067	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:3495067C>T	uc003ghd.2	+	7	1424	c.1354C>T	c.(1354-1356)CGG>TGG	p.R452W	DOK7_uc003ghe.2_Missense_Mutation_p.R314W|DOK7_uc003ghf.2_Silent_p.G193G|DOK7_uc003ghg.1_Missense_Mutation_p.R142W	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	452					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CACGAGACGGCGGGGCCTGGT	0.771												
LRPAP1	4043	broad.mit.edu	37	4	3526677	3526677	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:3526677G>A	uc003ghi.2	-	2	391	c.306C>T	c.(304-306)GAC>GAT	p.D102D		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	102					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CCCCATCTTCGTCCAAGCCGT	0.433												
ZBTB49	166793	broad.mit.edu	37	4	4322409	4322409	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:4322409G>A	uc003ghu.2	+	8	1839	c.1664G>A	c.(1663-1665)CGC>CAC	p.R555H	uc003ghw.2_5'Flank|ZBTB49_uc003ghv.2_Missense_Mutation_p.R38H|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Missense_Mutation_p.R133H	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	555	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						AGGCATGTCCGCACTCACACT	0.428												
JAKMIP1	152789	broad.mit.edu	37	4	6107625	6107625	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:6107625C>T	uc003giu.3	-	3	475	c.199G>A	c.(199-201)GCC>ACC	p.A67T	JAKMIP1_uc010idb.1_Missense_Mutation_p.A67T|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.A67T|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.A67T|JAKMIP1_uc010ide.2_Missense_Mutation_p.A67T	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	67	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						GAAATGTAGGCCGTGTGCCGT	0.662												
WFS1	7466	broad.mit.edu	37	4	6296830	6296830	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:6296830A>G	uc003giy.2	+	7	941	c.775A>G	c.(775-777)ATC>GTC	p.I259V	WFS1_uc003gix.2_Missense_Mutation_p.I259V|WFS1_uc003giz.2_Missense_Mutation_p.I77V	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	259					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		CAAGGGCGTCATCCCCAGCAG	0.567												
PPP2R2C	5522	broad.mit.edu	37	4	6380228	6380228	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:6380228A>G	uc003gjc.2	-	3	610	c.240T>C	c.(238-240)TTT>TTC	p.F80F	PPP2R2C_uc003gjb.2_Silent_p.F63F|PPP2R2C_uc011bwd.1_Silent_p.F73F|PPP2R2C_uc011bwe.1_Silent_p.F73F|PPP2R2C_uc003gja.2_Silent_p.F80F|PPP2R2C_uc003gjd.1_Silent_p.F168F	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	80					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						TGAGATAGTCAAACTCCGGCT	0.567												
TADA2B	93624	broad.mit.edu	37	4	7055912	7055912	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:7055912G>A	uc003gjw.3	+	2	545	c.394G>A	c.(394-396)GTG>ATG	p.V132M	TADA2B_uc010idi.2_Missense_Mutation_p.V57M	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						CCCCAACCGCGTGACAGACCA	0.652												
ACOX3	8310	broad.mit.edu	37	4	8390919	8390919	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:8390919G>A	uc010idk.2	-	13	1663	c.1518C>T	c.(1516-1518)GCC>GCT	p.A506A	ACOX3_uc003glc.3_Silent_p.A506A|ACOX3_uc003gld.3_Silent_p.A506A|ACOX3_uc003gle.1_Silent_p.A411A	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	506					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						CCAAGCAGTCGGCAACACTGG	0.577												
BST1	683	broad.mit.edu	37	4	15733442	15733442	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:15733442G>A	uc003goh.3	+	9	1126	c.931G>A	c.(931-933)GTG>ATG	p.V311M	BST1_uc003goi.2_Intron	NM_004334	NP_004325	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1 precursor	311					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)	1						CCTCTTTCTGGTGCTGGCTTC	0.493												
KLF3	51274	broad.mit.edu	37	4	38682250	38682250	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:38682250C>A	uc003gth.3	+	2	336	c.4C>A	c.(4-6)CTC>ATC	p.L2I	KLF3_uc003gtg.2_Missense_Mutation_p.L2I	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	2	Repressor domain.|Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						TAAAAGAATGCTCATGTTTGA	0.408												
RBM47	54502	broad.mit.edu	37	4	40438542	40438542	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:40438542C>T	uc003gvc.2	-	5	1956	c.1246G>A	c.(1246-1248)GGA>AGA	p.G416R	RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.G378R	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	416						nucleus	nucleotide binding|RNA binding			breast(3)	3						TGCTGCTTTCCTTTCCCTTCA	0.507												
CNGA1	1259	broad.mit.edu	37	4	47938530	47938530	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:47938530T>C	uc003gxt.3	-	11	2247	c.1981A>G	c.(1981-1983)AAG>GAG	p.K661E	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.K730E	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	661	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						TTCTCAACCTTGGTTAATCTT	0.458												
EXOC1	55763	broad.mit.edu	37	4	56726616	56726616	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:56726616T>C	uc003hbe.1	+	3	322	c.164T>C	c.(163-165)GTC>GCC	p.V55A	EXOC1_uc003hbf.1_Missense_Mutation_p.V55A|EXOC1_uc003hbg.1_Missense_Mutation_p.V55A	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	55					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					GTGGTCAAAGTCAAGAAATCC	0.413												
WDFY3	23001	broad.mit.edu	37	4	85708634	85708634	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:85708634C>T	uc003hpd.2	-	23	4309	c.3901_splice	c.e23+1	p.C1301_splice		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAGTTACTCACATGGCATACA	0.328												
NAP1L5	266812	broad.mit.edu	37	4	89618768	89618768	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:89618768G>A	uc003hrx.2	-	1	256	c.138C>T	c.(136-138)AGC>AGT	p.S46S	HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	46					nucleosome assembly	nucleus	protein binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		GACCAGCCGCGCTGTCAGGGT	0.343												
MMRN1	22915	broad.mit.edu	37	4	90816212	90816212	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:90816212T>C	uc003hst.2	+	1	161	c.90T>C	c.(88-90)CCT>CCC	p.P30P	MMRN1_uc010iku.2_Silent_p.P30P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	30					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGACTATACCTGAGGATGGGA	0.443												
DAPP1	27071	broad.mit.edu	37	4	100789327	100789327	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:100789327G>A	uc003hvf.3	+	9	918	c.828G>A	c.(826-828)TCG>TCA	p.S276S	DAPP1_uc010ilh.2_3'UTR	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and	276					signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity				0				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		GATCTCGGTCGTTCATCTTTA	0.438												
CENPE	1062	broad.mit.edu	37	4	104103997	104103997	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:104103997G>A	uc003hxb.1	-	11	975	c.885C>T	c.(883-885)TCC>TCT	p.S295S	CENPE_uc003hxc.1_Silent_p.S295S	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	295	Kinesin-motor.				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)		TTCCTCCCAAGGAATTCTGGA	0.353												
CAMK2D	817	broad.mit.edu	37	4	114436226	114436226	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:114436226C>T	uc003ibi.2	-	10	1677	c.818G>A	c.(817-819)TGT>TAT	p.C273Y	CAMK2D_uc003ibj.2_Missense_Mutation_p.C273Y|CAMK2D_uc003ibk.2_Missense_Mutation_p.C273Y|CAMK2D_uc003ibo.3_Missense_Mutation_p.C273Y|CAMK2D_uc003ibm.2_Missense_Mutation_p.C273Y|CAMK2D_uc003ibn.2_Missense_Mutation_p.C273Y|CAMK2D_uc003ibl.2_Missense_Mutation_p.C273Y	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	273					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTTACTTACACAGATCCATGG	0.368												
TRAM1L1	133022	broad.mit.edu	37	4	118005620	118005620	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:118005620G>A	uc003ibv.3	-	1	1117	c.930C>T	c.(928-930)TAC>TAT	p.Y310Y		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	310	Helical; (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						TCCATGTTACGTAGGCTTGGA	0.428												
TRPC3	7222	broad.mit.edu	37	4	122853626	122853626	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:122853626G>A	uc003ieg.2	-	2	861	c.787C>T	c.(787-789)CAC>TAC	p.H263Y	TRPC3_uc010inr.2_Missense_Mutation_p.H190Y|TRPC3_uc003ief.2_Missense_Mutation_p.H190Y|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	178	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						AAATAGTCGTGCGGCCGCTCG	0.602												
ANKRD50	57182	broad.mit.edu	37	4	125590320	125590320	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:125590320C>T	uc003ifg.3	-	3	4378	c.4112G>A	c.(4111-4113)AGC>AAC	p.S1371N	ANKRD50_uc011cgo.1_Missense_Mutation_p.S1192N|ANKRD50_uc010inw.2_Missense_Mutation_p.S1371N	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1371										central_nervous_system(1)	1						AACCTGGTTGCTCTGAAGATG	0.418												
FAT4	79633	broad.mit.edu	37	4	126239735	126239735	+	Silent	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:126239735T>G	uc003ifj.3	+	1	2169	c.2169T>G	c.(2167-2169)ACT>ACG	p.T723T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	723	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCAATGGTACTGTCAAATATA	0.473												
FAT4	79633	broad.mit.edu	37	4	126372007	126372007	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:126372007G>T	uc003ifj.3	+	9	9836	c.9836G>T	c.(9835-9837)TGT>TTT	p.C3279F	FAT4_uc011cgp.1_Missense_Mutation_p.C1577F|FAT4_uc003ifi.1_Missense_Mutation_p.C757F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3279	Cadherin 31.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAGGAAAGGTGTAGCTTTGCC	0.403												
FAT4	79633	broad.mit.edu	37	4	126373015	126373015	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:126373015G>A	uc003ifj.3	+	9	10844	c.10844G>A	c.(10843-10845)CGG>CAG	p.R3615Q	FAT4_uc011cgp.1_Missense_Mutation_p.R1913Q|FAT4_uc003ifi.1_Missense_Mutation_p.R1093Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3615	Cadherin 34.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TCACAGTCTCGGACGGTGGAG	0.438												
FAT4	79633	broad.mit.edu	37	4	126373581	126373581	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:126373581G>A	uc003ifj.3	+	9	11410	c.11410G>A	c.(11410-11412)GAC>AAC	p.D3804N	FAT4_uc011cgp.1_Missense_Mutation_p.D2102N|FAT4_uc003ifi.1_Missense_Mutation_p.D1282N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3804	Extracellular (Potential).|EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGTGGATCATGACTCCTGTGT	0.483												
TBC1D9	23158	broad.mit.edu	37	4	141583179	141583179	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:141583179C>T	uc010ioj.2	-	10	1943	c.1671G>A	c.(1669-1671)ACG>ACA	p.T557T		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	557	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CAATCTCCTCCGTGGCGAGAT	0.478												
OTUD4	54726	broad.mit.edu	37	4	146064586	146064586	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:146064586A>G	uc003ika.3	-	17	1557	c.1419T>C	c.(1417-1419)GAT>GAC	p.D473D	OTUD4_uc003ijz.3_Silent_p.D472D	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	537							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					CATATTTATCATCAGTAATAT	0.343												
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:153247366C>T	uc003ims.2	-	10	1585	c.1436G>A	c.(1435-1437)CGA>CAA	p.R479Q	FBXW7_uc011cii.1_Missense_Mutation_p.R479Q|FBXW7_uc003imt.2_Missense_Mutation_p.R479Q|FBXW7_uc011cih.1_Missense_Mutation_p.R303Q|FBXW7_uc003imq.2_Missense_Mutation_p.R399Q|FBXW7_uc003imr.2_Missense_Mutation_p.R361Q	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	479	WD 3.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R479Q(31)|p.R479L(7)|p.R479G(3)|p.R399Q(2)|p.R240L(1)|p.R399L(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			Mis|N|D|F		colorectal|endometrial|T-ALL							
DCHS2	54798	broad.mit.edu	37	4	155156861	155156861	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:155156861G>T	uc003inw.2	-	25	7578	c.7578C>A	c.(7576-7578)TCC>TCA	p.S2526S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2526	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCCTTCAGAGGAGAAAGACA	0.408												
GUCY1B3	2983	broad.mit.edu	37	4	156710914	156710914	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:156710914C>T	uc003ipc.2	+	5	513	c.346C>T	c.(346-348)CGT>TGT	p.R116C	GUCY1B3_uc011cio.1_Missense_Mutation_p.R138C|GUCY1B3_uc011cip.1_Missense_Mutation_p.R96C|GUCY1B3_uc003ipd.2_Missense_Mutation_p.R44C|GUCY1B3_uc010iqf.2_Missense_Mutation_p.R116C|GUCY1B3_uc010iqg.2_Missense_Mutation_p.R44C|GUCY1B3_uc011ciq.1_Missense_Mutation_p.R44C	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	116					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CCCAGGAATGCGTGCACCTTC	0.463												
CPE	1363	broad.mit.edu	37	4	166403505	166403505	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:166403505C>T	uc003irg.3	+	4	1061	c.784C>T	c.(784-786)CGG>TGG	p.R262W		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	262					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGATGAGACGCGGAGTGGTAG	0.378												
MLF1IP	79682	broad.mit.edu	37	4	185618812	185618812	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:185618812C>T	uc003iwq.2	-	12	1202	c.1132G>A	c.(1132-1134)GTA>ATA	p.V378I	MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_3'UTR	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	MLF1 interacting protein	378					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm					0		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GTTTCCTTTACGTTTGGTTCT	0.358												
LRP2BP	55805	broad.mit.edu	37	4	186291916	186291916	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:186291916C>A	uc003ixj.1	-	7	1668	c.856G>T	c.(856-858)GAC>TAC	p.D286Y	LRP2BP_uc003ixk.1_Missense_Mutation_p.D260Y|LRP2BP_uc011ckr.1_Missense_Mutation_p.D286Y	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	286						cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GGGAGACAGTCTGTGACCTGG	0.507												
FAT1	2195	broad.mit.edu	37	4	187519257	187519257	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:187519257G>T	uc003izf.2	-	23	12314	c.12126C>A	c.(12124-12126)GCC>GCA	p.A4042A	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4042	Extracellular (Potential).|EGF-like 2.				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						CTATGTACAAGGCACTGCATT	0.433										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187540947	187540947	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:187540947C>T	uc003izf.2	-	10	6981	c.6793G>A	c.(6793-6795)GCT>ACT	p.A2265T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2265	Extracellular (Potential).|Cadherin 20.				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						AATACTTCAGCATGAGCGCCC	0.488										HNSCC(5;0.00058)		
TUBB4Q	56604	broad.mit.edu	37	4	190904370	190904370	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:190904370C>T	uc011clg.1	-	4	613	c.610G>A	c.(610-612)GAA>AAA	p.E204K		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	205					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)		TATAGCGCTTCGTTATCTATG	0.537												
SLC9A3	6550	broad.mit.edu	37	5	483524	483524	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:483524G>A	uc003jbe.2	-	6	1118	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C	SLC9A3_uc011clx.1_Missense_Mutation_p.R336C	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	336	Extracellular (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ATGGTGTAGCGCACGGTGGTG	0.587												
BRD9	65980	broad.mit.edu	37	5	865542	865542	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:865542G>A	uc003jbq.2	-	15	1847	c.1680C>T	c.(1678-1680)GAC>GAT	p.D560D	BRD9_uc003jbl.2_Silent_p.D444D|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.D507D|BRD9_uc003jbo.2_Silent_p.D464D	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	bromodomain containing 9 isoform 1	560							nucleic acid binding				0			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GGTGGTGCTGGTCCCTCTCGG	0.657												
CLPTM1L	81037	broad.mit.edu	37	5	1339036	1339036	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:1339036C>T	uc003jch.2	-	4	584	c.538G>A	c.(538-540)GCG>ACG	p.A180T	CLPTM1L_uc003jcg.2_Missense_Mutation_p.A47T	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	180	Extracellular (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		AAGTTGTCCGCCATCACGTTC	0.617												
NDUFS6	4726	broad.mit.edu	37	5	1814469	1814469	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:1814469C>T	uc003jcy.2	+	3	226	c.203C>T	c.(202-204)GCC>GTC	p.A68V		NM_004553	NP_004544	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6,	68					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)	1					NADH(DB00157)	GAAAACTTTGCCATTGATTTG	0.458												
IRX2	153572	broad.mit.edu	37	5	2748668	2748668	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:2748668G>A	uc003jda.2	-	3	1396	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M	IRX2_uc003jdb.2_Missense_Mutation_p.T385M	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	385						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		GAAGGGCGACGTGTAGTAGAG	0.592												
SEMA5A	9037	broad.mit.edu	37	5	9224864	9224864	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:9224864G>A	uc003jek.2	-	8	1280	c.568C>T	c.(568-570)CGT>TGT	p.R190C		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	190	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						GCAGGATCACGTCCTGGAAAA	0.567												
ADAMTS12	81792	broad.mit.edu	37	5	33624406	33624406	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:33624406G>A	uc003jia.1	-	14	2236	c.2073C>T	c.(2071-2073)TGC>TGT	p.C691C	ADAMTS12_uc010iuq.1_Intron	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	691	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GGCACACACCGCAGCGATCCT	0.507										HNSCC(64;0.19)		
SLC45A2	51151	broad.mit.edu	37	5	33947392	33947392	+	Missense_Mutation	SNP	A	A	C	rs112249076		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:33947392A>C	uc003jid.2	-	6	1336	c.1244T>G	c.(1243-1245)ATT>AGT	p.I415S	SLC45A2_uc003jie.2_Missense_Mutation_p.I415S	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	415	Helical; Name=9; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAAGAGCCCAATAAATCCCGT	0.478												
NIPBL	25836	broad.mit.edu	37	5	37022491	37022491	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:37022491T>C	uc003jkl.3	+	29	6072	c.5573T>C	c.(5572-5574)TTG>TCG	p.L1858S	NIPBL_uc003jkk.3_Missense_Mutation_p.L1858S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1858	HEAT 2.				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)			GAAAGAATATTGGTATGTTTG	0.323												
DAB2	1601	broad.mit.edu	37	5	39383287	39383287	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:39383287G>A	uc003jlx.2	-	10	1305	c.774C>T	c.(772-774)AAC>AAT	p.N258N	DAB2_uc003jlw.2_Silent_p.N237N	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	258					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)			AGGTGATGCCGTTTGTTAAGA	0.423												
PRKAA1	5562	broad.mit.edu	37	5	40767586	40767586	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:40767586G>A	uc003jmc.2	-	6	809	c.803C>T	c.(802-804)GCC>GTC	p.A268V	PRKAA1_uc003jmb.2_Missense_Mutation_p.A283V	NM_006251	NP_006242	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	268	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTTGATTGTGGCCCTCTTCAT	0.284												
DHX29	54505	broad.mit.edu	37	5	54552344	54552344	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:54552344G>A	uc003jpx.2	-	27	4202	c.4082C>T	c.(4081-4083)ACG>ATG	p.T1361M	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1361							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TATCAATTCCGTAATGATCTG	0.313												
IL6ST	3572	broad.mit.edu	37	5	55236979	55236979	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:55236979C>T	uc003jqq.2	-	17	2943	c.2688G>A	c.(2686-2688)GCG>GCA	p.A896A	uc003jqp.2_5'Flank|IL6ST_uc010iwb.2_Silent_p.A835A|IL6ST_uc010iwc.2_3'UTR|IL6ST_uc010iwd.2_Silent_p.A215A|IL6ST_uc011cqk.1_Silent_p.A607A|IL6ST_uc003jqr.2_3'UTR	NM_002184	NP_002175	P40189	IL6RB_HUMAN	interleukin 6 signal transducer isoform 1	896	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)				CTTCATCAGTCGCAGCCTCCA	0.468			O		hepatocellular ca							
HTR1A	3350	broad.mit.edu	37	5	63256583	63256583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:63256583C>A	uc011cqt.1	-	1	964	c.964G>T	c.(964-966)GAG>TAG	p.E322*		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	322	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTTTTCCTCTCGAAAGAGGCG	0.617												
PIK3R1	5295	broad.mit.edu	37	5	67591106	67591106	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:67591106A>G	uc003jva.2	+	13	2259	c.1699A>G	c.(1699-1701)AAA>GAA	p.K567E	PIK3R1_uc003jvb.2_Missense_Mutation_p.K567E|PIK3R1_uc003jvc.2_Missense_Mutation_p.K267E|PIK3R1_uc003jvd.2_Missense_Mutation_p.K297E|PIK3R1_uc003jve.2_Missense_Mutation_p.K246E|PIK3R1_uc011crb.1_Missense_Mutation_p.K237E	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	567					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAACAGCATTAAACCAGACCT	0.368			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)		
SV2C	22987	broad.mit.edu	37	5	75428050	75428050	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:75428050G>T	uc003kei.1	+	2	609	c.475G>T	c.(475-477)GGC>TGC	p.G159C		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	159	Helical; (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTTCGTCCTGGGCATGGCTCT	0.512												
CMYA5	202333	broad.mit.edu	37	5	79025669	79025669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:79025669C>T	uc003kgc.2	+	2	1153	c.1081C>T	c.(1081-1083)CAG>TAG	p.Q361*		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	361						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		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)		CAGGCATTCACAGTCAGTGCC	0.483												
THBS4	7060	broad.mit.edu	37	5	79366538	79366538	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:79366538G>A	uc003kgh.2	+	13	1848	c.1525G>A	c.(1525-1527)GAG>AAG	p.E509K	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	509	TSP type-3 2.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CGCTTGTGACGAGGATGCTGA	0.532												
GPR98	84059	broad.mit.edu	37	5	90159637	90159637	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:90159637T>G	uc003kju.2	+	83	17915	c.17819T>G	c.(17818-17820)CTT>CGT	p.L5940R	GPR98_uc003kjt.2_Missense_Mutation_p.L3646R|GPR98_uc003kjw.2_Missense_Mutation_p.L1601R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5940	Helical; (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCAGCTAAACTTCTGACTCAC	0.418												
TTC37	9652	broad.mit.edu	37	5	94852270	94852270	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:94852270C>T	uc003klb.2	-	24	2806	c.2536G>A	c.(2536-2538)GCT>ACT	p.A846T		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	846	TPR 14.						binding			ovary(3)|pancreas(1)	4						CAGTGCTGAGCAAGGGCATAA	0.294												
ERAP1	51752	broad.mit.edu	37	5	96130807	96130807	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:96130807G>A	uc003kmm.2	-	5	1204	c.857C>T	c.(856-858)GCG>GTG	p.A286V	ERAP1_uc003kml.2_Missense_Mutation_p.A286V|ERAP1_uc010jbm.1_Missense_Mutation_p.A98V|ERAP1_uc003kmn.2_Missense_Mutation_p.A286V	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	286	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AAGAGTCACCGCAGCATCCAG	0.378												
PAM	5066	broad.mit.edu	37	5	102285672	102285672	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:102285672A>C	uc003knw.2	+	10	1164	c.791A>C	c.(790-792)CAG>CCG	p.Q264P	PAM_uc003kns.2_Missense_Mutation_p.Q264P|PAM_uc003knt.2_Missense_Mutation_p.Q264P|PAM_uc003knu.2_Missense_Mutation_p.Q264P|PAM_uc003knv.2_Missense_Mutation_p.Q264P|PAM_uc011cuz.1_Missense_Mutation_p.Q167P	NM_000919	NP_000910	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	264	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)	CAGAGCCCTCAGCTGCCACAG	0.323												
RAD50	10111	broad.mit.edu	37	5	131931471	131931471	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:131931471C>T	uc003kxi.2	+	13	2563	c.2176C>T	c.(2176-2178)CGT>TGT	p.R726C	RAD50_uc003kxh.2_Missense_Mutation_p.R587C	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	726	Zinc-hook.|Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAAAAGCGGCGTGATGAAAT	0.428								Homologous_recombination				
C5orf20	140947	broad.mit.edu	37	5	134782702	134782702	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:134782702C>T	uc003lav.2	-	1	337	c.97G>A	c.(97-99)GAA>AAA	p.E33K		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	dendritic cell nuclear protein 1	33						nucleus					0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTGGGGTTTCCCCACCAGCT	0.592												
TGFBI	7045	broad.mit.edu	37	5	135391437	135391437	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:135391437G>A	uc003lbf.3	+	11	1640	c.1479G>A	c.(1477-1479)ACG>ACA	p.T493T	TGFBI_uc003lbg.3_Silent_p.T226T|TGFBI_uc003lbh.3_Silent_p.T319T|TGFBI_uc011cyb.1_Silent_p.T319T|TGFBI_uc010jed.2_Silent_p.T226T	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	493	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCTGTTCACGATGGACCGGG	0.572												
BRD8	10902	broad.mit.edu	37	5	137476521	137476521	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:137476521C>T	uc003lcf.1	-	26	3543	c.3488G>A	c.(3487-3489)CGC>CAC	p.R1163H	BRD8_uc003lcc.1_Intron|NME5_uc003lce.2_5'Flank	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	1163	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCATGGTGCGAATCCGACC	0.443												
CDC25C	995	broad.mit.edu	37	5	137661709	137661709	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:137661709C>T	uc003lcp.1	-	5	640	c.369_splice	c.e5+1	p.P123_splice	CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Splice_Site_p.P123_splice|CDC25C_uc011cyp.1_Splice_Site_p.P140_splice|CDC25C_uc003lcs.1_Splice_Site_p.P201_splice|CDC25C_uc010jet.1_Splice_Site_p.P123_splice|CDC25C_uc003lct.1_Intron|CDC25C_uc003lcu.1_Intron	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a						cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGGCTACTCACTGGGCTACAT	0.448												
EGR1	1958	broad.mit.edu	37	5	137802862	137802862	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:137802862G>A	uc003ldb.1	+	2	994	c.724G>A	c.(724-726)GCC>ACC	p.A242T	EGR1_uc011cyu.1_Intron	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	242					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGCCTACCCTGCCGCCAAGGG	0.647												
SLC4A9	83697	broad.mit.edu	37	5	139739839	139739839	+	Silent	SNP	A	A	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:139739839A>C	uc003lfm.2	+	1	53	c.18A>C	c.(16-18)CCA>CCC	p.P6P	SLC4A9_uc003lfj.2_Silent_p.P6P|SLC4A9_uc011czg.1_Silent_p.P6P|SLC4A9_uc003lfl.2_Silent_p.P6P|SLC4A9_uc003lfk.2_Silent_p.P6P	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	6	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGCTGCCAGGCCAGGAAG	0.557												
PCDHA2	56146	broad.mit.edu	37	5	140174689	140174689	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140174689G>A	uc003lhd.2	+	1	246	c.140G>A	c.(139-141)CGC>CAC	p.R47H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.R47H|PCDHA2_uc011czy.1_Missense_Mutation_p.R47H	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	47	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.682												
PCDHA2	56146	broad.mit.edu	37	5	140176040	140176040	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140176040G>A	uc003lhd.2	+	1	1597	c.1491G>A	c.(1489-1491)CGG>CGA	p.R497R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.R497R|PCDHA2_uc011czy.1_Silent_p.R497R	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	497	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGAGCGGCGGGTGGGCG	0.672												
PCDHA3	56145	broad.mit.edu	37	5	140182244	140182244	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140182244G>A	uc003lhf.2	+	1	1462	c.1462G>A	c.(1462-1464)GCC>ACC	p.A488T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A488T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	488	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGAGAACGCCCTGGTGTC	0.662												
PCDHA5	56143	broad.mit.edu	37	5	140203136	140203136	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140203136G>A	uc003lhl.2	+	1	1776	c.1776G>A	c.(1774-1776)AAG>AAA	p.K592K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.K592K|PCDHA5_uc003lhj.1_Silent_p.K592K	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	592	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGCGAAGGTGCGCGCAG	0.697												
PCDHA6	56142	broad.mit.edu	37	5	140208845	140208845	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140208845C>T	uc003lho.2	+	1	1196	c.1169C>T	c.(1168-1170)ACG>ATG	p.T390M	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.T390M|PCDHA6_uc011dab.1_Missense_Mutation_p.T390M	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	390	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)			TGCTCGCTGACGCCTCACGTC	0.552												
PCDHA8	56140	broad.mit.edu	37	5	140223022	140223022	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140223022G>A	uc003lhs.2	+	1	2116	c.2116G>A	c.(2116-2118)GCG>ACG	p.A706T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A706T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	706	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCATCTGCGCGGTATCCAG	0.657												
PCDHA10	56139	broad.mit.edu	37	5	140237301	140237301	+	Silent	SNP	C	C	T	rs139533789	by1000genomes	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140237301C>T	uc003lhx.2	+	1	1668	c.1668C>T	c.(1666-1668)GAC>GAT	p.D556D	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_uc011dad.1_Silent_p.D556D	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	556	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687												
PCDHA13	56136	broad.mit.edu	37	5	140263462	140263462	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140263462G>A	uc003lif.2	+	1	1609	c.1609G>A	c.(1609-1611)GCG>ACG	p.A537T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A537T|PCDHA13_uc003lid.2_Missense_Mutation_p.A537T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	537	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)			CCAGGTGAGCGCGCGCGACTC	0.682												
PCDHA13	56136	broad.mit.edu	37	5	140263782	140263782	+	Silent	SNP	G	G	A	rs146010500		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140263782G>A	uc003lif.2	+	1	1929	c.1929G>A	c.(1927-1929)CCG>CCA	p.P643P	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.P643P|PCDHA13_uc003lid.2_Silent_p.P643P	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	643	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGCGCCGCACCACCGCC	0.701												
PCDHB3	56132	broad.mit.edu	37	5	140481823	140481823	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140481823C>T	uc003lio.2	+	1	1590	c.1590C>T	c.(1588-1590)CGC>CGT	p.R530R	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	530	Extracellular (Potential).|Cadherin 5.				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)			TCGAGTTCCGCGTGGGCGCCA	0.667												
PCDHB6	56130	broad.mit.edu	37	5	140530412	140530412	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140530412G>A	uc003lir.2	+	1	574	c.574G>A	c.(574-576)GAG>AAG	p.E192K	PCDHB6_uc011dah.1_Missense_Mutation_p.E56K	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	192	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGTTCCCGGAGCTGGTGCT	0.617												
PCDHB6	56130	broad.mit.edu	37	5	140531180	140531180	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140531180G>A	uc003lir.2	+	1	1342	c.1342G>A	c.(1342-1344)GCC>ACC	p.A448T	PCDHB6_uc011dah.1_Missense_Mutation_p.A312T	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	448	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGTCCCCGCCTTCACCCA	0.567												
PCDHGA1	56114	broad.mit.edu	37	5	140712198	140712198	+	Silent	SNP	C	C	T	rs138362456		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140712198C>T	uc003lji.1	+	1	1947	c.1947C>T	c.(1945-1947)CAC>CAT	p.H649H	PCDHGA1_uc011dan.1_Silent_p.H649H	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	649	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGACCACGGCCAGCCCC	0.706												
PCDHGA1	56114	broad.mit.edu	37	5	140712241	140712241	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140712241G>A	uc003lji.1	+	1	1990	c.1990G>A	c.(1990-1992)GTG>ATG	p.V664M	PCDHGA1_uc011dan.1_Missense_Mutation_p.V664M	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	664	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTGGCCGTGGCCGACAG	0.682												
PCDHGA2	56113	broad.mit.edu	37	5	140719675	140719675	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140719675C>T	uc003ljk.1	+	1	1322	c.1137C>T	c.(1135-1137)AAC>AAT	p.N379N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.N379N	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	379	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGCAGAACGCATTCACCA	0.433												
PCDHGB3	56102	broad.mit.edu	37	5	140751770	140751770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140751770G>A	uc003ljw.1	+	1	1809	c.1809G>A	c.(1807-1809)TGG>TGA	p.W603*	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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Nonsense_Mutation_p.W603*|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	603	Extracellular (Potential).|Cadherin 6.				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)			ACAACGCCTGGCTGTCCTACC	0.667												
PCDHGA7	56108	broad.mit.edu	37	5	140763761	140763761	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140763761T>C	uc003lka.1	+	1	1295	c.1295T>C	c.(1294-1296)TTG>TCG	p.L432S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.L432S	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	432	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCTCCCTTGTCCAGGGAA	0.463												
PCDHGA7	56108	broad.mit.edu	37	5	140764588	140764588	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140764588G>A	uc003lka.1	+	1	2122	c.2122G>A	c.(2122-2124)GTC>ATC	p.V708I	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|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Missense_Mutation_p.V708I|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	708	Helical; (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)			CCTAGCCTTCGTCCTCGTACT	0.627												
PCDHGB4	8641	broad.mit.edu	37	5	140769384	140769384	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140769384C>T	uc003lkc.1	+	1	1933	c.1933C>T	c.(1933-1935)CGT>TGT	p.R645C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.R645C	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	645	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCGCCGTGCGTGACGGTGG	0.697												
PCDHGC4	56098	broad.mit.edu	37	5	140866576	140866576	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140866576G>T	uc003lky.1	+	1	1836	c.1836G>T	c.(1834-1836)GAG>GAT	p.E612D	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_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Missense_Mutation_p.E612D|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	612	Cadherin 6.|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)			AGCTCCTGGAGGCCCCAGATC	0.557												
JAKMIP2	9832	broad.mit.edu	37	5	147024421	147024421	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:147024421A>T	uc003loq.1	-	6	1457	c.1075T>A	c.(1075-1077)TCA>ACA	p.S359T	JAKMIP2_uc011dbx.1_Missense_Mutation_p.S317T|JAKMIP2_uc003lor.1_Missense_Mutation_p.S359T|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.S359T	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	359	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCATTTCTGAATTTTCCTTG	0.398												
FBXO38	81545	broad.mit.edu	37	5	147781951	147781951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:147781951G>A	uc003lpf.1	+	5	587	c.467G>A	c.(466-468)TGG>TAG	p.W156*	FBXO38_uc003lpg.1_Nonsense_Mutation_p.W156*|FBXO38_uc003lph.2_Nonsense_Mutation_p.W156*	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	156						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATCCATTTGGACATATATG	0.363												
FBXO38	81545	broad.mit.edu	37	5	147807059	147807059	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:147807059C>T	uc003lpf.1	+	15	2322	c.2202C>T	c.(2200-2202)GGC>GGT	p.G734G	FBXO38_uc003lpg.1_Silent_p.G734G|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	734						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACAGCGGCGGCTCTTCCG	0.607												
TNIP1	10318	broad.mit.edu	37	5	150436492	150436492	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:150436492G>A	uc003ltf.2	-	6	1051	c.462C>T	c.(460-462)GAC>GAT	p.D154D	TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Silent_p.D154D|TNIP1_uc010jhn.2_Silent_p.D154D|TNIP1_uc011dco.1_Silent_p.D154D|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Silent_p.D154D|TNIP1_uc003ltg.2_Silent_p.D101D|TNIP1_uc003ltj.2_Silent_p.D154D|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Silent_p.D101D|TNIP1_uc010jhp.1_Silent_p.D101D|TNIP1_uc010jhr.1_Silent_p.D154D|TNIP1_uc003ltk.2_Silent_p.D154D	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	154	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGGTTGCCGTCCTCACGGG	0.682												
GRIA1	2890	broad.mit.edu	37	5	153078486	153078486	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:153078486C>T	uc003lva.3	+	10	1670	c.1305C>T	c.(1303-1305)TAC>TAT	p.Y435Y	GRIA1_uc003luy.3_Silent_p.Y435Y|GRIA1_uc003luz.3_Silent_p.Y340Y|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.Y355Y|GRIA1_uc011dcx.1_Silent_p.Y366Y|GRIA1_uc011dcy.1_Silent_p.Y445Y|GRIA1_uc011dcz.1_Silent_p.Y445Y|GRIA1_uc010jia.1_Silent_p.Y415Y	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	435	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)	ATGACCGTTACGAGGGCTACT	0.517												
CYFIP2	26999	broad.mit.edu	37	5	156816266	156816266	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:156816266G>A	uc003lwq.2	+	31	3415	c.3277G>A	c.(3277-3279)GAG>AAG	p.E1093K	CYFIP2_uc011ddn.1_Missense_Mutation_p.E1067K|CYFIP2_uc011ddo.1_Missense_Mutation_p.E897K|CYFIP2_uc003lwr.2_Missense_Mutation_p.E1093K|CYFIP2_uc003lws.2_Missense_Mutation_p.E1093K|CYFIP2_uc003lwt.2_Missense_Mutation_p.E996K|CYFIP2_uc011ddp.1_Missense_Mutation_p.E827K|CYFIP2_uc003lwv.2_Missense_Mutation_p.E48K	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1118					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCCATGTTCGAGGTCATCCT	0.597												
ADAM19	8728	broad.mit.edu	37	5	156915311	156915311	+	Missense_Mutation	SNP	G	G	A	rs146453088	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:156915311G>A	uc003lwz.2	-	21	2576	c.2512C>T	c.(2512-2514)CGG>TGG	p.R838W	ADAM19_uc003lww.1_Missense_Mutation_p.R571W|ADAM19_uc003lwy.2_Missense_Mutation_p.R437W|ADAM19_uc011ddr.1_Missense_Mutation_p.R769W	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	838	Cytoplasmic (Potential).|SH3-binding (Potential).|SH3-binding (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAATTGGCCGGCTTGGAGGA	0.572												
ATP10B	23120	broad.mit.edu	37	5	160042879	160042879	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:160042879A>G	uc003lym.1	-	17	3466	c.2619T>C	c.(2617-2619)ACT>ACC	p.T873T	ATP10B_uc010jit.1_Silent_p.T190T|ATP10B_uc003lyn.2_Silent_p.T431T	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	873	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)			GATGCTGTGCAGTTTCCATGA	0.483												
ODZ2	57451	broad.mit.edu	37	5	167420177	167420177	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:167420177G>A	uc010jjd.2	+	5	1176	c.1176G>A	c.(1174-1176)GCG>GCA	p.A392A	ODZ2_uc003lzq.2_Silent_p.A271A|ODZ2_uc003lzr.3_Silent_p.A201A	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTTTGCTGGCGTATTTCATAG	0.537												
FBXW11	23291	broad.mit.edu	37	5	171305054	171305054	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:171305054T>A	uc003mbm.1	-	7	1240	c.869A>T	c.(868-870)GAG>GTG	p.E290V	FBXW11_uc011dey.1_Missense_Mutation_p.E258V|FBXW11_uc003mbl.1_Missense_Mutation_p.E277V|FBXW11_uc003mbn.1_Missense_Mutation_p.E256V	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	290	WD 2.				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AATGACACGCTCATCATACTG	0.438												
CPEB4	80315	broad.mit.edu	37	5	173378931	173378931	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:173378931A>G	uc003mcs.3	+	8	3176	c.1770A>G	c.(1768-1770)CCA>CCG	p.P590P	CPEB4_uc010jju.1_Silent_p.P565P|CPEB4_uc010jjv.2_Silent_p.P573P|CPEB4_uc011dfg.1_Silent_p.P565P|CPEB4_uc003mct.3_Silent_p.P200P|CPEB4_uc003mcu.3_Silent_p.P183P	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	590	RRM 2.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCCTCGACCATTACGAGCTG	0.403												
N4BP3	23138	broad.mit.edu	37	5	177546741	177546741	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:177546741C>T	uc003mik.1	+	2	404	c.157C>T	c.(157-159)CGT>TGT	p.R53C	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Nedd4 binding protein 3	53						cytoplasmic vesicle membrane					0	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGGGCCAGCGTGAGTTCCT	0.662												
ZNF354C	30832	broad.mit.edu	37	5	178505905	178505905	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:178505905G>A	uc003mju.2	+	5	587	c.472G>A	c.(472-474)GGA>AGA	p.G158R		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CAGTGAAGATGGAAACCATAC	0.373												
GFPT2	9945	broad.mit.edu	37	5	179739447	179739447	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:179739447C>A	uc003mlw.1	-	15	1627	c.1529G>T	c.(1528-1530)GGC>GTC	p.G510V		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	510					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGATCTCAAGCCACGGATGAT	0.438												
WRNIP1	56897	broad.mit.edu	37	6	2783645	2783645	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:2783645G>A	uc003mtz.2	+	5	1683	c.1492G>A	c.(1492-1494)GAG>AAG	p.E498K	WRNIP1_uc003mua.2_Missense_Mutation_p.E473K	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Werner helicase interacting protein isoform 1	498					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			ovary(1)|pancreas(1)	2	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GTCAGGTGAGGAGCATTACAA	0.597												
DSP	1832	broad.mit.edu	37	6	7565702	7565702	+	Silent	SNP	C	C	T	rs149701627		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:7565702C>T	uc003mxp.1	+	7	1167	c.888C>T	c.(886-888)TAC>TAT	p.Y296Y	DSP_uc003mxq.1_Silent_p.Y296Y	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	296	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCTGCTGTACGACTGGAGCG	0.547												
DSP	1832	broad.mit.edu	37	6	7569492	7569492	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:7569492C>T	uc003mxp.1	+	12	1772	c.1493C>T	c.(1492-1494)CCG>CTG	p.P498L	DSP_uc003mxq.1_Missense_Mutation_p.P498L	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	498	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTGACGGGCCCGGGAGGCGTT	0.562												
NHLRC1	378884	broad.mit.edu	37	6	18122100	18122100	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:18122100G>A	uc003ncl.1	-	1	752	c.738C>T	c.(736-738)TTC>TTT	p.F246F		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	246					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCCCTTCCGCGAAGTCGACGT	0.602												
ZNF391	346157	broad.mit.edu	37	6	27368577	27368577	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:27368577G>T	uc003njf.1	+	3	946	c.428G>T	c.(427-429)GGG>GTG	p.G143V		NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	143	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(2)|skin(1)	3						AACAAATGTGGGAAATCTTTC	0.383												
ZNF165	7718	broad.mit.edu	37	6	28053571	28053571	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:28053571T>C	uc003nkg.2	+	3	1397	c.313T>C	c.(313-315)TTG>CTG	p.L105L	ZNF165_uc003nkh.2_Silent_p.L105L|ZNF165_uc003nki.3_Silent_p.L105L	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	105	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCCAGGAGATTTGCAGGCCTG	0.522												
TRIM10	10107	broad.mit.edu	37	6	30122079	30122079	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:30122079T>C	uc003npo.3	-	7	1189	c.1113A>G	c.(1111-1113)ATA>ATG	p.I371M	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	371	B30.2/SPRY.					cytoplasm	zinc ion binding				0						GGGCCAGGTCTATACTCACCA	0.657												
TRIM39	56658	broad.mit.edu	37	6	30309680	30309680	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:30309680G>A	uc010jrz.2	+	9	1513	c.1201G>A	c.(1201-1203)GAC>AAC	p.D401N	TRIM39_uc003npz.2_Missense_Mutation_p.D371N|TRIM39_uc003nqb.2_Missense_Mutation_p.D371N|TRIM39_uc003nqc.2_Missense_Mutation_p.D371N|TRIM39_uc010jsa.1_Intron	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	401	B30.2/SPRY.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						GGAGGTGGGCGACAAGACCCA	0.612												
C6orf136	221545	broad.mit.edu	37	6	30617508	30617508	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:30617508A>G	uc003nqw.3	+	2	439	c.246A>G	c.(244-246)GCA>GCG	p.A82A	C6orf136_uc003nqx.3_Silent_p.A263A|C6orf136_uc011dmn.1_Intron	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN	hypothetical protein LOC221545 isoform 1	82											0						TCAGCTCAGCATGGGTGGTTC	0.622												
MDC1	9656	broad.mit.edu	37	6	30672977	30672977	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:30672977G>A	uc003nrg.3	-	10	4423	c.3983C>T	c.(3982-3984)ACA>ATA	p.T1328I	MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.T935I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1328	Pro-rich.|Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						CTCAGGGGCTGTGGGGACAAC	0.557								Other_conserved_DNA_damage_response_genes				
DDR1	780	broad.mit.edu	37	6	30861185	30861185	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:30861185C>T	uc003nrr.2	+	11	1591	c.1332C>T	c.(1330-1332)CGC>CGT	p.R444R	DDR1_uc010jse.2_Silent_p.R444R|DDR1_uc003nrq.2_Silent_p.R444R|DDR1_uc003nrs.2_Silent_p.R444R|DDR1_uc003nrt.2_Silent_p.R444R|DDR1_uc011dms.1_Silent_p.R462R|DDR1_uc003nru.2_Silent_p.R444R|DDR1_uc003nrv.2_Silent_p.R444R|DDR1_uc003nrw.1_Silent_p.R243R|DDR1_uc003nry.1_RNA|DDR1_uc003nrx.1_RNA	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	444	Cytoplasmic (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	TGCACTGGCGCAGGCTCCTCA	0.692												
CDSN	1041	broad.mit.edu	37	6	31084004	31084004	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:31084004G>A	uc003nsm.1	-	2	1415	c.1388C>T	c.(1387-1389)TCC>TTC	p.S463F	PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin precursor	463	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			ovary(1)|pancreas(1)	2						TGTCAAGGAGGAGACAGACAT	0.592												
NFKBIL1	4795	broad.mit.edu	37	6	31525862	31525862	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:31525862G>A	uc003nub.2	+	4	739	c.620G>A	c.(619-621)CGG>CAG	p.R207Q	NFKBIL1_uc011dnr.1_Missense_Mutation_p.R169Q|NFKBIL1_uc011dns.1_Missense_Mutation_p.R184Q|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Missense_Mutation_p.R192Q	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene	207					cytoplasmic sequestering of transcription factor		protein binding				0						CGCCTGGCCCGGGAACATGCC	0.632												
BAT2	7916	broad.mit.edu	37	6	31595588	31595588	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:31595588A>G	uc003nvb.3	+	12	1586	c.1337A>G	c.(1336-1338)GAT>GGT	p.D446G	BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.D446G	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	446	4 X 57 AA type A repeats.|2 X type B repeats.					cytoplasm|nucleus	protein binding				0						GAAGATGAGGATGAGGCATGG	0.602												
HSPA1L	3305	broad.mit.edu	37	6	31778571	31778571	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:31778571C>T	uc003nxh.2	-	2	1362	c.1179G>A	c.(1177-1179)CTG>CTA	p.L393L	HSPA1L_uc010jte.2_Silent_p.L393L	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	393					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						CCAGCAGCAGCAGGTCCTGTA	0.597												
SKIV2L	6499	broad.mit.edu	37	6	31933609	31933609	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:31933609G>A	uc003nyn.1	+	18	2410	c.2021G>A	c.(2020-2022)CGT>CAT	p.R674H	SKIV2L_uc011dou.1_Missense_Mutation_p.R516H|SKIV2L_uc011dov.1_Missense_Mutation_p.R481H	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	674	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						ATGCCTGCTCGTACAGTAGTG	0.562												
FKBPL	63943	broad.mit.edu	37	6	32096525	32096525	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:32096525G>A	uc003nzr.2	-	2	1303	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	WAF-1/CIP1 stabilizing protein 39	345					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						AACATCTTGCGCAGACCCTGA	0.537												
COL11A2	1302	broad.mit.edu	37	6	33157112	33157112	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:33157112G>A	uc003ocx.1	-	2	445	c.217C>T	c.(217-219)CGC>TGC	p.R73C	COL11A2_uc003ocy.1_Missense_Mutation_p.R73C|COL11A2_uc003ocz.1_Missense_Mutation_p.R73C|COL11A2_uc003oda.2_Missense_Mutation_p.R73C	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	73	TSP N-terminal.				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						AAAAGCTGGCGAGTGGGTGCA	0.622												
DAXX	1616	broad.mit.edu	37	6	33287900	33287900	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:33287900C>T	uc003oec.2	-	5	1557	c.1353G>A	c.(1351-1353)GAG>GAA	p.E451E	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.E376E|DAXX_uc011dre.1_Silent_p.E463E|DAXX_uc003oed.2_Silent_p.E451E	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	451	Asp/Glu-rich (acidic).|Potential.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						cttcttcttcctcctcctcct	0.254			Mis|F|N		Pancreatic neuroendocrine tumors							
SYNGAP1	8831	broad.mit.edu	37	6	33391326	33391326	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:33391326G>A	uc011dri.1	+	2	335	c.140G>A	c.(139-141)CGG>CAG	p.R47Q	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R32Q|SYNGAP1_uc010juy.2_Missense_Mutation_p.R32Q	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	47					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						TGGAACCCTCGGTTCTGCATC	0.542												
IP6K3	117283	broad.mit.edu	37	6	33694648	33694648	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:33694648A>C	uc010jvf.2	-	5	985	c.449T>G	c.(448-450)CTC>CGC	p.L150R	IP6K3_uc003ofb.2_Missense_Mutation_p.L150R	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	150					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity				0						TGGAGTGTTGAGGTGGGGCTC	0.652												
UHRF1BP1	54887	broad.mit.edu	37	6	34824084	34824084	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:34824084C>T	uc003oju.3	+	10	1423	c.1189C>T	c.(1189-1191)CTG>TTG	p.L397L	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_5'Flank	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	397										ovary(3)	3						GGCCCAGAAGCTGGTGATGGA	0.517												
FGD2	221472	broad.mit.edu	37	6	36995778	36995778	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:36995778C>T	uc010jwp.1	+	16	1978	c.1807C>T	c.(1807-1809)CCC>TCC	p.P603S	FGD2_uc003ong.2_Missense_Mutation_p.P325S|FGD2_uc011dtv.1_Missense_Mutation_p.P231S|FGD2_uc003onj.1_3'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	603	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						GACTGTTGGGCCCCAGGGGGA	0.647												
CUL7	9820	broad.mit.edu	37	6	43019075	43019075	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:43019075C>A	uc003otq.2	-	4	1167	c.864G>T	c.(862-864)GAG>GAT	p.E288D	CUL7_uc011dvb.1_Missense_Mutation_p.E372D|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	288					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)			GTTGACCCCTCTCCCCACTCA	0.602												
CUL9	23113	broad.mit.edu	37	6	43152294	43152294	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:43152294G>A	uc003ouk.2	+	2	321	c.246G>A	c.(244-246)GAG>GAA	p.E82E	CUL9_uc003ouj.1_Silent_p.E82E|CUL9_uc003oul.2_Silent_p.E82E|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	82					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						TGTTAGGTGAGCGGGCACTAT	0.567												
TJAP1	93643	broad.mit.edu	37	6	43472983	43472983	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:43472983G>A	uc003ovd.2	+	11	1440	c.1064G>A	c.(1063-1065)CGC>CAC	p.R355H	TJAP1_uc003ovf.2_Missense_Mutation_p.R345H|TJAP1_uc003ove.2_Missense_Mutation_p.R345H|TJAP1_uc003ovc.2_Missense_Mutation_p.R345H|TJAP1_uc010jyp.2_Missense_Mutation_p.R314H|TJAP1_uc011dvh.1_Missense_Mutation_p.R345H|TJAP1_uc003ovg.2_Missense_Mutation_p.R221H|TJAP1_uc011dvi.1_Missense_Mutation_p.R355H|TJAP1_uc011dvj.1_Missense_Mutation_p.R155H|TJAP1_uc003ovi.2_Missense_Mutation_p.R221H	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 isoform a	355						Golgi apparatus|tight junction	protein binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TACGCTACCCGCCAGGCCATT	0.438												
POLH	5429	broad.mit.edu	37	6	43565480	43565480	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:43565480A>T	uc003ovq.3	+	5	842	c.538A>T	c.(538-540)ATT>TTT	p.I180F	POLH_uc010jyu.2_Missense_Mutation_p.I56F|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.I81F	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	DNA-directed DNA polymerase eta	180	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(2)	2	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TTCTCTTCAGATTGATAACCT	0.408								DNA_polymerases_(catalytic_subunits)	Xeroderma_Pigmentosum			
TDRD6	221400	broad.mit.edu	37	6	46658575	46658575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:46658575C>T	uc003oyj.2	+	1	2710	c.2710C>T	c.(2710-2712)CAA>TAA	p.Q904*	TDRD6_uc010jze.2_Nonsense_Mutation_p.Q898*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	904					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AAAGGCAATACAAGCTTTCAA	0.323												
TFAP2B	7021	broad.mit.edu	37	6	50807909	50807909	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:50807909C>T	uc003pag.2	+	6	1147	c.981C>T	c.(979-981)TGC>TGT	p.C327C		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	327					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					GGTACATTTGCGAAACGGAGT	0.507												
EFHC1	114327	broad.mit.edu	37	6	52329708	52329708	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:52329708G>A	uc003pap.3	+	6	1147	c.932G>A	c.(931-933)TGT>TAT	p.C311Y	EFHC1_uc011dwv.1_Missense_Mutation_p.C220Y|EFHC1_uc011dww.1_Missense_Mutation_p.C292Y	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	311	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					TTCCCTCAGTGTGTGCTAGAA	0.398												
BAI3	577	broad.mit.edu	37	6	69666043	69666043	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:69666043G>T	uc003pev.3	+	7	1771	c.1323G>T	c.(1321-1323)TGG>TGT	p.W441C	BAI3_uc010kak.2_Missense_Mutation_p.W441C	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	441	TSP type-1 3.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				GAGGGCCATGGGCAGAAAGCA	0.532												
RIMS1	22999	broad.mit.edu	37	6	73017019	73017019	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:73017019G>A	uc003pga.2	+	27	3986	c.3909G>A	c.(3907-3909)AAG>AAA	p.K1303K	RIMS1_uc011dyb.1_Silent_p.K700K|RIMS1_uc003pgc.2_Silent_p.K752K|RIMS1_uc010kaq.2_Silent_p.K623K|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Silent_p.K312K|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Silent_p.K369K|RIMS1_uc003pge.2_Silent_p.K343K|RIMS1_uc011dye.1_Silent_p.K109K|RIMS1_uc011dyf.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1303					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)				ATCGATTTAAGCAGACAACAG	0.373												
KCNQ5	56479	broad.mit.edu	37	6	73843172	73843172	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:73843172C>T	uc003pgk.2	+	10	1623	c.1276C>T	c.(1276-1278)CGC>TGC	p.R426C	KCNQ5_uc011dyh.1_Missense_Mutation_p.R445C|KCNQ5_uc011dyi.1_Missense_Mutation_p.R436C|KCNQ5_uc010kat.2_Missense_Mutation_p.R417C|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.R176C	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	426					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)		GGAGCGAGTGCGCATGGCTAG	0.507												
COL12A1	1303	broad.mit.edu	37	6	75812406	75812406	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:75812406C>T	uc003phs.2	-	56	8488	c.8322G>A	c.(8320-8322)GGG>GGA	p.G2774G	COL12A1_uc003pht.2_Silent_p.G1610G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2774	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GACCAGGGGGCCCCTAAAATA	0.498												
COL12A1	1303	broad.mit.edu	37	6	75828810	75828810	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:75828810C>T	uc003phs.2	-	46	7469	c.7303G>A	c.(7303-7305)GGT>AGT	p.G2435S	COL12A1_uc003pht.2_Missense_Mutation_p.G1271S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2435	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TGGGACCGACCGTCCGTGACC	0.473												
COL12A1	1303	broad.mit.edu	37	6	75841699	75841699	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:75841699C>T	uc003phs.2	-	35	6060	c.5894G>A	c.(5893-5895)CGC>CAC	p.R1965H	COL12A1_uc003pht.2_Missense_Mutation_p.R801H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1965	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ATACACAACGCGATATTGCAG	0.468												
FILIP1	27145	broad.mit.edu	37	6	76024548	76024548	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:76024548T>C	uc003pia.2	-	5	1373	c.1000A>G	c.(1000-1002)AAG>GAG	p.K334E	FILIP1_uc003phy.1_Missense_Mutation_p.K334E|FILIP1_uc003phz.2_Missense_Mutation_p.K235E|FILIP1_uc010kbe.2_Missense_Mutation_p.K337E|FILIP1_uc003pib.1_Missense_Mutation_p.K86E	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	334	Potential.									skin(3)|ovary(1)	4						CCAACCAGCTTGAGTCTAAGT	0.418												
HTR1B	3351	broad.mit.edu	37	6	78172722	78172722	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:78172722G>A	uc003pil.1	-	1	399	c.399C>T	c.(397-399)TGC>TGT	p.C133C		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	133	Helical; Name=3; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TGGAGGCAGTGCAACAAGTGA	0.607												
IRAK1BP1	134728	broad.mit.edu	37	6	79607819	79607819	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:79607819G>A	uc003pim.2	+	4	656	c.551G>A	c.(550-552)CGC>CAC	p.R184H	IRAK1BP1_uc010kbg.1_Intron|IRAK1BP1_uc003pin.2_Missense_Mutation_p.R97H	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1	184					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)		AATGCGTGGCGCAAAGCTCAA	0.388												
PRSS35	167681	broad.mit.edu	37	6	84233542	84233542	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:84233542G>A	uc003pjz.2	+	2	545	c.382G>A	c.(382-384)GAC>AAC	p.D128N	PRSS35_uc010kbm.2_Missense_Mutation_p.D128N	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	128	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTATGGCACCGACAGCAGGTT	0.463												
TBX18	9096	broad.mit.edu	37	6	85446891	85446891	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:85446891C>T	uc003pkl.1	-	8	1336	c.1336G>A	c.(1336-1338)GGT>AGT	p.G446S	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	446					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AAGGTCTCACCAGCCTGGTTG	0.607												
MAP3K7	6885	broad.mit.edu	37	6	91254334	91254334	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:91254334G>A	uc003pnz.1	-	12	1390	c.1228C>T	c.(1228-1230)CGG>TGG	p.R410W	MAP3K7_uc003poa.1_Missense_Mutation_p.R410W|MAP3K7_uc003pob.1_Intron|MAP3K7_uc003poc.1_Intron	NM_145331	NP_663304	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	410					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CGGTGGCCCCGTTTAGGCTTG	0.408												
MANEA	79694	broad.mit.edu	37	6	96034845	96034845	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:96034845G>A	uc003poo.1	+	2	670	c.530G>A	c.(529-531)CGC>CAC	p.R177H	MANEA_uc003pon.2_Missense_Mutation_p.R177H	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	177	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AGACAAATGCGCTCAGCTTCA	0.294												
FIG4	9896	broad.mit.edu	37	6	110146440	110146440	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:110146440G>A	uc003ptt.2	+	23	2911	c.2696G>A	c.(2695-2697)CGA>CAA	p.R899Q	FIG4_uc011eau.1_Missense_Mutation_p.R593Q	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	899					cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TCCATGTACCGAGAGTACATC	0.498												
SLC22A16	85413	broad.mit.edu	37	6	110752462	110752462	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:110752462A>G	uc003puf.2	-	7	1500	c.1433T>C	c.(1432-1434)GTG>GCG	p.V478A	SLC22A16_uc003pue.2_Missense_Mutation_p.V459A	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	478	Helical; (Potential).				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		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)		GCCGCTTCCCACAGCCAGCGA	0.577												
REV3L	5980	broad.mit.edu	37	6	111650820	111650820	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:111650820G>A	uc003puy.3	-	25	8479	c.8156C>T	c.(8155-8157)GCG>GTG	p.A2719V	REV3L_uc003pux.3_Missense_Mutation_p.A2641V|REV3L_uc003puz.3_Missense_Mutation_p.A2641V|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2719					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)		CAACTGACGCGCATCAAGCAT	0.408								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
FAM26E	254228	broad.mit.edu	37	6	116836936	116836936	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:116836936C>T	uc003pwy.2	+	2	766	c.714C>T	c.(712-714)AGC>AGT	p.S238S	BET3L_uc011ebh.1_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	hypothetical protein LOC254228	238						integral to membrane					0		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		ACAAGCTGAGCGAGAGGAACC	0.448												
RWDD1	51389	broad.mit.edu	37	6	116912077	116912077	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:116912077A>G	uc003pxd.2	+	6	737	c.574A>G	c.(574-576)AAT>GAT	p.N192D	RWDD1_uc003pxb.2_Missense_Mutation_p.N96D|RWDD1_uc003pxc.2_Missense_Mutation_p.N96D	NM_015952	NP_057036	Q9H446	RWDD1_HUMAN	RWD domain containing 1 isoform a	192	Interaction with DRG2 (By similarity).						protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		AACAGATCATAATCTTGACAC	0.244												
KPNA5	3841	broad.mit.edu	37	6	117023264	117023264	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:117023264C>T	uc003pxh.2	+	6	649	c.518C>T	c.(517-519)CCG>CTG	p.P173L		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	170	ARM 3.|NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GGGGCTGTTCCGATTTTTATC	0.333												
C6orf174	387104	broad.mit.edu	37	6	127796917	127796917	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:127796917C>T	uc003qbd.2	-	6	3119	c.2254G>A	c.(2254-2256)GAC>AAC	p.D752N	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	752						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CTCTCGGCGTCGCTGTCGCGG	0.692												
PTPRK	5796	broad.mit.edu	37	6	128505668	128505668	+	Silent	SNP	G	G	A	rs61757809	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:128505668G>A	uc003qbk.2	-	7	1438	c.1071C>T	c.(1069-1071)ACC>ACT	p.T357T	PTPRK_uc003qbj.2_Silent_p.T357T|PTPRK_uc010kfc.2_Silent_p.T357T|PTPRK_uc011ebu.1_Silent_p.T357T|PTPRK_uc003qbl.1_Silent_p.T227T|PTPRK_uc011ebv.1_Silent_p.T357T	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	357	Fibronectin type-III 1.|Extracellular (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCTCATATTCGGTATCTGGAT	0.458												
TAAR2	9287	broad.mit.edu	37	6	132938520	132938520	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:132938520C>T	uc003qdl.1	-	2	825	c.825G>A	c.(823-825)TGG>TGA	p.W275*	TAAR2_uc010kfr.1_Nonsense_Mutation_p.W230*	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	275	Helical; Name=6; (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AACAAGGAAACCAACATAATA	0.333												
TAAR2	9287	broad.mit.edu	37	6	132938576	132938576	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:132938576C>T	uc003qdl.1	-	2	769	c.769G>A	c.(769-771)GAC>AAC	p.D257N	TAAR2_uc010kfr.1_Missense_Mutation_p.D212N	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	257	Cytoplasmic (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GCTTTTTTGTCTTTCTTCACT	0.328												
EYA4	2070	broad.mit.edu	37	6	133849878	133849878	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:133849878T>C	uc003qec.3	+	20	2313	c.1855T>C	c.(1855-1857)TGG>CGG	p.W619R	EYA4_uc011ecq.1_Missense_Mutation_p.W565R|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.W619R|EYA4_uc003qee.3_Missense_Mutation_p.W596R|EYA4_uc011ecs.1_Missense_Mutation_p.W625R|uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	619					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CATGCCCTTCTGGAGGATATC	0.323												
TNFAIP3	7128	broad.mit.edu	37	6	138200310	138200310	+	Silent	SNP	G	G	A	rs140120540		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:138200310G>A	uc003qhr.2	+	7	1794	c.1728G>A	c.(1726-1728)CCG>CCA	p.P576P	TNFAIP3_uc003qhs.2_Silent_p.P576P	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	576	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)		GCCCCTCCCCGCATTCTTGCC	0.642			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma							
HIVEP2	3097	broad.mit.edu	37	6	143091172	143091172	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:143091172T>C	uc003qjd.2	-	5	5447	c.4704A>G	c.(4702-4704)GAA>GAG	p.E1568E		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1568	Ser-rich.				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)		CGATATCTAATTCATCTGAAG	0.537												
HIVEP2	3097	broad.mit.edu	37	6	143091178	143091178	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:143091178T>C	uc003qjd.2	-	5	5441	c.4698A>G	c.(4696-4698)TCA>TCG	p.S1566S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1566	Ser-rich.				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)		CTAATTCATCTGAAGATTCTT	0.542												
RAET1E	135250	broad.mit.edu	37	6	150210638	150210638	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:150210638G>T	uc003qnl.1	-	3	528	c.468C>A	c.(466-468)ACC>ACA	p.T156T	uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.T156T|RAET1E_uc003qnk.1_Silent_p.T120T|RAET1E_uc010kih.1_RNA	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E precursor	156	Extracellular (Potential).|MHC class I alpha-2 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TTACTGTCCAGGTCATGTTCA	0.473												
PLEKHG1	57480	broad.mit.edu	37	6	151153326	151153326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:151153326G>T	uc003qny.1	+	16	3391	c.3079G>T	c.(3079-3081)GGA>TGA	p.G1027*	PLEKHG1_uc011eel.1_Nonsense_Mutation_p.G1067*|PLEKHG1_uc011eem.1_Nonsense_Mutation_p.G1086*|PLEKHG1_uc003qnz.2_Nonsense_Mutation_p.G1027*	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	1027					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAAGAAGCAAGGAGGGCCCGC	0.512												
AKAP12	9590	broad.mit.edu	37	6	151669964	151669964	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:151669964C>T	uc011eep.1	+	4	678	c.438C>T	c.(436-438)ATC>ATT	p.I146I	AKAP12_uc003qoe.2_Silent_p.I146I|AKAP12_uc003qof.2_Silent_p.I48I|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.I41I	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	146					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)		CCGAAATAATCGAACAGATTC	0.423												
SYNE1	23345	broad.mit.edu	37	6	152540258	152540258	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:152540258C>T	uc010kiw.2	-	120	22526	c.21924G>A	c.(21922-21924)GAG>GAA	p.E7308E	SYNE1_uc010kiv.2_Silent_p.E1832E|SYNE1_uc003qos.3_Silent_p.E1832E|SYNE1_uc003qot.3_Silent_p.E7237E|SYNE1_uc003qou.3_Silent_p.E7308E|SYNE1_uc003qor.3_Silent_p.E208E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7308	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)		GCTTCAGTTGCTCTCCCAGCT	0.478										HNSCC(10;0.0054)		
RGS17	26575	broad.mit.edu	37	6	153347651	153347651	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:153347651C>A	uc003qpm.2	-	3	303	c.147G>T	c.(145-147)GGG>GGT	p.G49G		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	regulator of G-protein signalling 17	49					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CCGCATTTTCCCCTCTTTCTT	0.388									Lung_Cancer_Familial_Clustering_of			
OPRM1	4988	broad.mit.edu	37	6	154412320	154412320	+	Missense_Mutation	SNP	G	G	A	rs11575856		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:154412320G>A	uc003qpr.2	+	3	1114	c.877G>A	c.(877-879)GTC>ATC	p.V293I	OPRM1_uc011efc.1_Missense_Mutation_p.V212I|OPRM1_uc011efd.1_Missense_Mutation_p.V193I|OPRM1_uc011efe.1_Missense_Mutation_p.V386I|OPRM1_uc003qpn.2_Missense_Mutation_p.V293I|OPRM1_uc003qpo.1_Missense_Mutation_p.V293I|OPRM1_uc011eff.1_Missense_Mutation_p.V293I|OPRM1_uc011efg.1_Missense_Mutation_p.V293I|OPRM1_uc011efh.1_Missense_Mutation_p.V293I|OPRM1_uc003qpq.1_Missense_Mutation_p.V293I|OPRM1_uc003qpt.1_Missense_Mutation_p.V293I|OPRM1_uc011efi.1_Missense_Mutation_p.V293I|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.V193I|OPRM1_uc003qpu.2_Missense_Mutation_p.V193I	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	293	Helical; Name=6; (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TGTGTTCATCGTCTGCTGGAC	0.498												
CNKSR3	154043	broad.mit.edu	37	6	154771281	154771281	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:154771281C>T	uc003qpy.2	-	2	669	c.164G>A	c.(163-165)CGG>CAG	p.R55Q		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	55	SAM.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTGTCCAATCCGTGTGACCCC	0.527												
TIAM2	26230	broad.mit.edu	37	6	155561732	155561732	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:155561732G>A	uc003qqb.2	+	18	4510	c.3237G>A	c.(3235-3237)CCG>CCA	p.P1079P	TIAM2_uc003qqe.2_Silent_p.P1079P|TIAM2_uc010kjj.2_Silent_p.P612P|TIAM2_uc003qqf.2_Silent_p.P455P|TIAM2_uc011efl.1_Silent_p.P415P|TIAM2_uc003qqg.2_Silent_p.P391P|TIAM2_uc003qqh.2_Silent_p.P4P	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1079					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGGAAGGACCGCGGGAGAATC	0.557												
SYNJ2	8871	broad.mit.edu	37	6	158497676	158497676	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:158497676G>A	uc003qqx.1	+	17	2386	c.2311G>A	c.(2311-2313)GAA>AAA	p.E771K	SYNJ2_uc003qqw.1_Missense_Mutation_p.E771K|SYNJ2_uc003qqy.1_Missense_Mutation_p.E484K|SYNJ2_uc003qqz.1_Missense_Mutation_p.E388K|SYNJ2_uc003qra.1_Missense_Mutation_p.E114K	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	771	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGACTTTCACGAAGGAGCCAT	0.463												
KIF25	3834	broad.mit.edu	37	6	168439243	168439243	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:168439243G>A	uc003qwk.1	+	5	590	c.328G>A	c.(328-330)GAA>AAA	p.E110K	KIF25_uc003qwl.1_Missense_Mutation_p.E110K	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	110	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCTCATTTTGGAAAATACCTC	0.438												
FAM120B	84498	broad.mit.edu	37	6	170632250	170632250	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:170632250C>A	uc003qxp.2	+	3	1926	c.1818C>A	c.(1816-1818)ACC>ACA	p.T606T	FAM120B_uc003qxo.1_Silent_p.T606T|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	606					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GCAGCAACACCCTAGAAGATG	0.483												
KIAA0415	9907	broad.mit.edu	37	7	4821204	4821204	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:4821204A>G	uc003sne.2	+	3	268	c.185A>G	c.(184-186)GAG>GGG	p.E62G	KIAA0415_uc010ksp.2_RNA	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	62					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		TCCAGGCTGGAGAAGACATGC	0.692												
KIAA0415	9907	broad.mit.edu	37	7	4830319	4830319	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:4830319G>A	uc003sne.2	+	16	2037	c.1954G>A	c.(1954-1956)GAG>AAG	p.E652K	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.E129K	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	652					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		GGCCATCGGCGAGTACCTGTC	0.652												
WIPI2	26100	broad.mit.edu	37	7	5257644	5257644	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:5257644A>C	uc003snv.2	+	7	884	c.668A>C	c.(667-669)AAG>ACG	p.K223T	WIPI2_uc003snw.2_Missense_Mutation_p.K223T|WIPI2_uc003snx.2_Missense_Mutation_p.K205T|WIPI2_uc003sny.2_Missense_Mutation_p.K205T|WIPI2_uc010ksv.2_Missense_Mutation_p.K79T|WIPI2_uc003snz.2_3'UTR|WIPI2_uc003soa.2_Missense_Mutation_p.K164T	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	223	WD 1.				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCTTCGGAGAAGGTGAGTCTG	0.527												
GHRHR	2692	broad.mit.edu	37	7	31013693	31013693	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:31013693C>A	uc003tbx.2	+	7	739	c.691C>A	c.(691-693)CTG>ATG	p.L231M	GHRHR_uc003tbw.1_Missense_Mutation_p.L231M|GHRHR_uc003tby.2_Missense_Mutation_p.L167M|GHRHR_uc003tbz.2_Intron	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	231	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	GAACTGCCTCCTGGCCTCCAC	0.622												
PDE1C	5137	broad.mit.edu	37	7	31887708	31887708	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:31887708G>A	uc003tcm.1	-	9	1323	c.854C>T	c.(853-855)TCT>TTT	p.S285F	PDE1C_uc003tcn.1_Missense_Mutation_p.S285F|PDE1C_uc003tco.1_Missense_Mutation_p.S345F|PDE1C_uc003tcr.2_Missense_Mutation_p.S285F|PDE1C_uc003tcs.2_Missense_Mutation_p.S285F	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	285	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			AGCTGGATCAGACCTGAACAG	0.388												
FKBP9	11328	broad.mit.edu	37	7	33014897	33014897	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:33014897G>A	uc003tdh.2	+	3	652	c.471G>A	c.(469-471)CCG>CCA	p.P157P	AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Silent_p.P210P|FKBP9_uc003tdg.2_Silent_p.P157P|FKBP9_uc010kwm.2_Silent_p.P64P	NM_007270	NP_009201	O95302	FKBP9_HUMAN	FK506 binding protein 9 precursor	157					protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|ovary(1)	14			GBM - Glioblastoma multiforme(11;0.0156)			TCAAGCCCCCGAGTTGCCCTC	0.483												
GLI3	2737	broad.mit.edu	37	7	42005111	42005111	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:42005111T>C	uc011kbh.1	-	15	3651	c.3560A>G	c.(3559-3561)CAG>CGG	p.Q1187R	GLI3_uc011kbg.1_Missense_Mutation_p.Q1128R	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1187					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGCGCGAGTCTGCGGCACAGC	0.652									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
CAMK2B	816	broad.mit.edu	37	7	44302628	44302628	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:44302628G>A	uc003tkq.2	-	3	406	c.196C>T	c.(196-198)CGC>TGC	p.R66C	CAMK2B_uc003tkp.2_Missense_Mutation_p.R66C|CAMK2B_uc003tkx.2_Missense_Mutation_p.R66C|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.R66C|CAMK2B_uc003tks.2_Missense_Mutation_p.R66C|CAMK2B_uc003tku.2_Missense_Mutation_p.R66C|CAMK2B_uc003tkv.2_Missense_Mutation_p.R66C|CAMK2B_uc003tkt.2_Missense_Mutation_p.R66C|CAMK2B_uc003tkw.2_Missense_Mutation_p.R66C|CAMK2B_uc010kyc.2_Missense_Mutation_p.R66C	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	66	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						TTCAGAAGGCGGCAGATCCGA	0.612												
IKZF1	10320	broad.mit.edu	37	7	50367275	50367275	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:50367275G>A	uc003tow.3	+	4	250	c.82G>A	c.(82-84)GAT>AAT	p.D28N	IKZF1_uc003tox.3_Missense_Mutation_p.D28N|IKZF1_uc003toy.3_Missense_Mutation_p.D28N|IKZF1_uc011kck.1_Missense_Mutation_p.D28N|IKZF1_uc003toz.3_5'UTR|IKZF1_uc010kyx.2_5'UTR|IKZF1_uc003tov.1_Missense_Mutation_p.D28N	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	28					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(17)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGATGAGGGCGATGAGCCCAT	0.597			D		ALL							
NCF1	653361	broad.mit.edu	37	7	74197385	74197385	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:74197385C>T	uc003ubb.2	+	6	625	c.555C>T	c.(553-555)GTC>GTT	p.V185V	NCF1_uc010lbs.1_Silent_p.V185V|NCF1_uc011kfh.1_Missense_Mutation_p.R105C	NM_000265	NP_000256	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	185	SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			skin(1)	1						TGGTGGAGGTCGTAGAGAAGA	0.642												
WBSCR16	81554	broad.mit.edu	37	7	74486480	74486480	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:74486480C>T	uc003ubr.2	-	2	554	c.428G>A	c.(427-429)GGA>GAA	p.G143E	WBSCR16_uc010lcb.1_Missense_Mutation_p.G143E	NM_030798	NP_110425	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	143	RCC1 1.										0						CCTGTGAAATCCAAGCTGAGA	0.438												
HIP1	3092	broad.mit.edu	37	7	75167506	75167506	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:75167506G>A	uc003uds.1	-	31	3142	c.3101C>T	c.(3100-3102)ACC>ATC	p.T1034I	HIP1_uc011kfz.1_Missense_Mutation_p.T860I	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1034					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TTCTTTTTCGGTTACCACTTC	0.418			T	PDGFRB	CMML							
RSBN1L	222194	broad.mit.edu	37	7	77325880	77325880	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:77325880T>G	uc010ldt.1	+	1	138	c.94T>G	c.(94-96)TCC>GCC	p.S32A	RSBN1L_uc003ugm.2_5'Flank|uc003ugj.1_RNA	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	32						nucleus				ovary(1)	1						GCTGCAACTCTCCTCCCGGGA	0.667												
SEMA3C	10512	broad.mit.edu	37	7	80430101	80430101	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:80430101G>T	uc003uhj.2	-	10	1520	c.958C>A	c.(958-960)CTA>ATA	p.L320I	SEMA3C_uc011kgw.1_Missense_Mutation_p.L338I|SEMA3C_uc011kgx.1_Missense_Mutation_p.L172I	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	320	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1						CCATACACTAGTGTTGTCCTC	0.274												
DMTF1	9988	broad.mit.edu	37	7	86824094	86824094	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:86824094C>T	uc003uih.2	+	17	2449	c.2123C>T	c.(2122-2124)GCA>GTA	p.A708V	DMTF1_uc003uii.2_Missense_Mutation_p.A442V|DMTF1_uc003uij.2_Missense_Mutation_p.A442V|DMTF1_uc011khb.1_Missense_Mutation_p.A620V|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.A708V|DMTF1_uc003uin.2_Missense_Mutation_p.A442V	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	708	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					TTTATCCAGGCATCTGATGTT	0.343												
ADAM22	53616	broad.mit.edu	37	7	87762257	87762257	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:87762257C>T	uc003ujn.2	+	12	1147	c.1068C>T	c.(1066-1068)GGC>GGT	p.G356G	ADAM22_uc003ujk.1_Silent_p.G356G|ADAM22_uc003ujl.1_Silent_p.G356G|ADAM22_uc003ujm.2_Silent_p.G356G|ADAM22_uc003ujo.2_Silent_p.G356G|ADAM22_uc003ujp.1_Silent_p.G408G	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	356	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGAGGAGGCGTGAATGAAG	0.403												
CYP51A1	1595	broad.mit.edu	37	7	91763674	91763674	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:91763674G>A	uc003ulm.3	-	1	167	c.5C>T	c.(4-6)GCG>GTG	p.A2V	CYP51A1_uc011khn.1_Intron|CYP51A1_uc003uln.3_Intron|uc003ulo.1_5'Flank	NM_000786	NP_000777	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A,	Error:Variant_position_missing_in_Q16850_after_alignment					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity				0	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	AGCCGCCGCCGCCATTCACTC	0.657											OREG0018160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TFPI2	7980	broad.mit.edu	37	7	93519522	93519522	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:93519522G>A	uc003umy.1	-	2	273	c.198C>T	c.(196-198)TAC>TAT	p.Y66Y	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.Y66Y|TFPI2_uc003una.1_Silent_p.Y55Y|TFPI2_uc003unb.1_Silent_p.Y66Y|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	66	BPTI/Kunitz inhibitor 1.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CGCAGCCCCCGTACAGGAACT	0.602												
DLX5	1749	broad.mit.edu	37	7	96651532	96651532	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:96651532C>T	uc003uon.2	-	2	713	c.505G>A	c.(505-507)GAG>AAG	p.E169K	DLX5_uc011kim.1_Missense_Mutation_p.E169K	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	169	Homeobox.				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCGGCCAGCTCGGCGCGTTCC	0.562												
NPTX2	4885	broad.mit.edu	37	7	98249051	98249051	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:98249051C>T	uc003upl.2	+	2	700	c.523C>T	c.(523-525)CGC>TGC	p.R175C		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	175					synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCAGCTTCTGCGCAAGGTGGC	0.642												
TRRAP	8295	broad.mit.edu	37	7	98519385	98519385	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:98519385C>T	uc003upp.2	+	21	2841	c.2632C>T	c.(2632-2634)CGC>TGC	p.R878C	TRRAP_uc011kis.1_Missense_Mutation_p.R878C|TRRAP_uc003upr.2_Missense_Mutation_p.R570C	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	878					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)			GGCTCTGTGGCGCACCTTACG	0.483												
TRRAP	8295	broad.mit.edu	37	7	98606058	98606058	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:98606058A>G	uc003upp.2	+	69	10979	c.10770A>G	c.(10768-10770)TCA>TCG	p.S3590S	TRRAP_uc011kis.1_Silent_p.S3561S|TRRAP_uc003upr.2_Silent_p.S3296S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3590	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)			ACCCCTCTTCACTTTCCCTTG	0.607												
ZNF498	221785	broad.mit.edu	37	7	99217366	99217366	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:99217366G>A	uc003url.1	+	4	464	c.137G>A	c.(136-138)CGG>CAG	p.R46Q	ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Missense_Mutation_p.R46Q|ZNF498_uc003uro.1_5'Flank	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	46	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CTGAGGTTTCGGCAGTTCCGC	0.592												
SRRT	51593	broad.mit.edu	37	7	100482596	100482596	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:100482596G>A	uc003uwy.2	+	10	1362	c.1094G>A	c.(1093-1095)GGC>GAC	p.G365D	SRRT_uc010lhl.1_Missense_Mutation_p.G365D|SRRT_uc003uxa.2_Missense_Mutation_p.G365D|SRRT_uc003uwz.2_Missense_Mutation_p.G365D	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	365	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						TTTGACGAGGGCAGCGTGTCA	0.582												
MUC17	140453	broad.mit.edu	37	7	100674455	100674455	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:100674455A>G	uc003uxp.1	+	2	190	c.137A>G	c.(136-138)GAC>GGC	p.D46G	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	46	Extracellular (Potential).					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)					TCCCAAGGGGACGTCTTGAAC	0.547												
RELN	5649	broad.mit.edu	37	7	103143664	103143664	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:103143664C>T	uc003vca.2	-	52	8448	c.8288G>A	c.(8287-8289)TGT>TAT	p.C2763Y	RELN_uc010liz.2_Missense_Mutation_p.C2763Y	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2763					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)		AGACACCTTACATCCAACTGA	0.388												
LHFPL3	375612	broad.mit.edu	37	7	103969413	103969413	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:103969413C>T	uc003vce.2	+	1	310	c.186C>T	c.(184-186)GGC>GGT	p.G62G	LHFPL3_uc003vcf.2_Silent_p.G62G	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	48						integral to membrane					0						ACTGGATAGGCGACGGCGTGG	0.627												
PIK3CG	5294	broad.mit.edu	37	7	106508673	106508673	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:106508673G>A	uc003vdv.3	+	2	752	c.667G>A	c.(667-669)GTC>ATC	p.V223I	PIK3CG_uc003vdu.2_Missense_Mutation_p.V223I|PIK3CG_uc003vdw.2_Missense_Mutation_p.V223I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	223					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CATCTTCATCGTCATTCACCG	0.592												
LAMB1	3912	broad.mit.edu	37	7	107580735	107580735	+	Missense_Mutation	SNP	C	C	T	rs146247883		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:107580735C>T	uc003vew.2	-	25	3795	c.3460G>A	c.(3460-3462)GTT>ATT	p.V1154I	LAMB1_uc003vev.2_Missense_Mutation_p.V1178I	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1154	Laminin EGF-like 13.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCCTCAACGCAGACACAC	0.587												
NRCAM	4897	broad.mit.edu	37	7	107824976	107824976	+	Silent	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:107824976T>G	uc003vfb.2	-	21	2589	c.2118A>C	c.(2116-2118)ACA>ACC	p.T706T	NRCAM_uc003vfc.2_Silent_p.T690T|NRCAM_uc011kmk.1_Silent_p.T701T|NRCAM_uc003vfd.2_Silent_p.T682T|NRCAM_uc003vfe.2_Silent_p.T682T	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	706	Fibronectin type-III 1.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						TCAGCTGGGCTGTGGTCTGTG	0.517												
DOCK4	9732	broad.mit.edu	37	7	111644152	111644152	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:111644152G>A	uc003vfx.2	-	2	341	c.72C>T	c.(70-72)GGC>GGT	p.G24G	DOCK4_uc003vfy.2_Silent_p.G24G|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.G24G|DOCK4_uc003vgb.1_5'UTR	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	24	SH3.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CCAATGACAGGCCATATGGAA	0.378												
WNT16	51384	broad.mit.edu	37	7	120971947	120971947	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:120971947G>A	uc003vjw.2	+	3	819	c.562G>A	c.(562-564)GGA>AGA	p.G188R	WNT16_uc003vjv.2_Missense_Mutation_p.G178R|WNT16_uc010lkl.2_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	188					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)					TTTCCCCATCGGAAACACCAC	0.463												
GPR37	2861	broad.mit.edu	37	7	124404756	124404756	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:124404756G>A	uc003vli.2	-	1	926	c.275C>T	c.(274-276)CCG>CTG	p.P92L		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	92	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GTCACGGCCCGGGGCCGCCGG	0.721												
SND1	27044	broad.mit.edu	37	7	127714599	127714599	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:127714599G>A	uc003vmi.2	+	17	2051	c.1825G>A	c.(1825-1827)GGC>AGC	p.G609S	SND1_uc010lle.2_Missense_Mutation_p.G262S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	609	TNase-like 4.				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						CAACTTTATCGGCTGGCTGCA	0.632												
FLNC	2318	broad.mit.edu	37	7	128482407	128482407	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:128482407C>T	uc003vnz.3	+	14	2453	c.2244C>T	c.(2242-2244)AAC>AAT	p.N748N	FLNC_uc003voa.3_Silent_p.N748N	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	748	Filamin 5.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GAGGCGTAAACGTGCCCAAGA	0.657											OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FLNC	2318	broad.mit.edu	37	7	128494150	128494150	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:128494150C>T	uc003vnz.3	+	40	6816	c.6607C>T	c.(6607-6609)CGC>TGC	p.R2203C	FLNC_uc003voa.3_Missense_Mutation_p.R2170C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2203	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GGAGACAAAGCGCGAGGTGCG	0.692												
PLXNA4	91584	broad.mit.edu	37	7	131853208	131853208	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:131853208G>A	uc003vra.3	-	22	4370	c.4141C>T	c.(4141-4143)CGC>TGC	p.R1381C		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1381	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CCACGGTCGCGCATGGAGAAG	0.577												
SLC13A4	26266	broad.mit.edu	37	7	135366416	135366416	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:135366416T>C	uc003vta.2	-	16	2465	c.1776A>G	c.(1774-1776)GGA>GGG	p.G592G	SLC13A4_uc003vtb.2_Silent_p.G593G|PL-5283_uc003vsz.3_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	592	Helical; (Potential).					integral to plasma membrane	sodium:sulfate symporter activity				0						CTATCACCAGTCCAATAACGT	0.552												
CHRM2	1129	broad.mit.edu	37	7	136700605	136700605	+	Silent	SNP	C	C	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:136700605C>G	uc003vtf.1	+	4	1616	c.993C>G	c.(991-993)ACC>ACG	p.T331T	CHRM2_uc003vtg.1_Silent_p.T331T|CHRM2_uc003vtj.1_Silent_p.T331T|CHRM2_uc003vtk.1_Silent_p.T331T|CHRM2_uc003vtl.1_Silent_p.T331T|CHRM2_uc003vtm.1_Silent_p.T331T|CHRM2_uc003vti.1_Silent_p.T331T|CHRM2_uc003vto.1_Silent_p.T331T|CHRM2_uc003vtn.1_Silent_p.T331T|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	331	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GCACCAAGACCCCAAAAAGTG	0.453												
KIAA1549	57670	broad.mit.edu	37	7	138601880	138601880	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:138601880G>A	uc011kql.1	-	2	2541	c.2492C>T	c.(2491-2493)GCC>GTC	p.A831V	KIAA1549_uc003vuk.3_Missense_Mutation_p.A781V|KIAA1549_uc011kqj.1_Missense_Mutation_p.A831V	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	831						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AGTGGGAATGGCTTTGGAGAA	0.517			O	BRAF	pilocytic astrocytoma							
TAS2R5	54429	broad.mit.edu	37	7	141490993	141490993	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:141490993A>G	uc003vwr.1	+	1	977	c.832A>G	c.(832-834)AGG>GGG	p.R278G		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	taste receptor T2R5	278	Cytoplasmic (Potential).				chemosensory behavior|sensory perception of taste		taste receptor activity				0	Melanoma(164;0.0171)					GGGGATTCCTAGGGTGAAGCA	0.493												
TAS2R38	5726	broad.mit.edu	37	7	141673410	141673410	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:141673410G>T	uc003vwx.1	-	1	164	c.80C>A	c.(79-81)GCA>GAA	p.A27E		NM_176817	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	27	Helical; Name=1; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|skin(1)	2	Melanoma(164;0.0171)					AAACCCCACTGCAAACTCCAG	0.463												
TRPV6	55503	broad.mit.edu	37	7	142575711	142575711	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:142575711T>C	uc003wbx.1	-	2	413	c.197A>G	c.(196-198)AAG>AGG	p.K66R	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	66	ANK 1.|Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					ATCCTCATACTTGAGCAACTT	0.517												
TRPV5	56302	broad.mit.edu	37	7	142609851	142609851	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:142609851C>T	uc003wby.1	-	13	1849	c.1585G>A	c.(1585-1587)GCA>ACA	p.A529T		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	529					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					GTGAACAGTGCCATGGGGTAG	0.498												
ZYX	7791	broad.mit.edu	37	7	143085633	143085633	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:143085633G>A	uc003wcw.2	+	7	1351	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	ZYX_uc011ktd.1_Missense_Mutation_p.R242H|ZYX_uc003wcx.2_Missense_Mutation_p.R399H|ZYX_uc011kte.1_Missense_Mutation_p.R368H|ZYX_uc011ktf.1_Missense_Mutation_p.R242H	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	399	LIM zinc-binding 1.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					CCAGCCGTCCGCGCTCTAGGG	0.627												
CNTNAP2	26047	broad.mit.edu	37	7	147815286	147815286	+	Silent	SNP	C	C	T	rs144496909		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:147815286C>T	uc003weu.1	+	16	2976	c.2460C>T	c.(2458-2460)AGC>AGT	p.S820S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	820	Laminin G-like 3.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGGAAACTAGCGCTGACATTT	0.433										HNSCC(39;0.1)		
C7orf33	202865	broad.mit.edu	37	7	148311382	148311382	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:148311382C>T	uc003wew.2	+	2	814	c.453C>T	c.(451-453)TAC>TAT	p.Y151Y		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	hypothetical protein LOC202865	151										central_nervous_system(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAAGTTCATACCTAAACGTAA	0.473												
CUL1	8454	broad.mit.edu	37	7	148489851	148489851	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:148489851T>C	uc010lpg.2	+	17	2366	c.1840T>C	c.(1840-1842)TAC>CAC	p.Y614H	CUL1_uc003wey.2_Missense_Mutation_p.Y614H|CUL1_uc003wez.2_Missense_Mutation_p.Y504H|CUL1_uc003wfa.2_Missense_Mutation_p.Y275H	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	614					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCTGCTTCAGTACAACACGGA	0.453												
PDIA4	9601	broad.mit.edu	37	7	148709400	148709400	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:148709400G>A	uc003wff.2	-	5	949	c.667C>T	c.(667-669)CTC>TTC	p.L223F		NM_004911	NP_004902	P13667	PDIA4_HUMAN	protein disulfide isomerase A4 precursor	223	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			lung(5)|ovary(1)	6	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CGCTTGCTGAGCTCCTTGGCG	0.557												
SSPO	23145	broad.mit.edu	37	7	149515750	149515750	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:149515750G>C	uc010lpk.2	+	84	11651	c.11651G>C	c.(11650-11652)GGC>GCC	p.G3884A		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3884	TSP type-1 16.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGGCTGGGGCCCATGGTCC	0.697												
DPP6	1804	broad.mit.edu	37	7	154585835	154585835	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:154585835G>A	uc003wlk.2	+	11	1312	c.1183G>A	c.(1183-1185)GCC>ACC	p.A395T	DPP6_uc003wli.2_Missense_Mutation_p.A331T|DPP6_uc003wlm.2_Missense_Mutation_p.A333T|DPP6_uc011kvq.1_Missense_Mutation_p.A288T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	395	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CACCAAGGTCGCCGTGACCTG	0.637												
NCAPG2	54892	broad.mit.edu	37	7	158472698	158472698	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:158472698G>A	uc003wnv.1	-	11	1245	c.1100C>T	c.(1099-1101)GCT>GTT	p.A367V	NCAPG2_uc010lqu.1_Missense_Mutation_p.A159V|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.A367V|NCAPG2_uc011kwe.1_Missense_Mutation_p.A367V	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	367					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CATTTCAATAGCATGAAGGTT	0.383												
ESYT2	57488	broad.mit.edu	37	7	158534291	158534291	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:158534291C>T	uc003wob.1	-	17	2238	c.2172G>A	c.(2170-2172)CCG>CCA	p.P724P	ESYT2_uc003woc.1_Silent_p.P548P|ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Silent_p.P163P|ESYT2_uc003woa.1_Silent_p.P301P	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	752						integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						TGCTGGGGGTCGGCTCCTTGA	0.657												
ARHGEF10	9639	broad.mit.edu	37	8	1842672	1842672	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:1842672C>T	uc003wpr.2	+	13	1552	c.1374C>T	c.(1372-1374)ATC>ATT	p.I458I	ARHGEF10_uc003wpq.1_Silent_p.I483I|ARHGEF10_uc003wps.2_Silent_p.I420I|ARHGEF10_uc003wpt.2_Silent_p.I334I|ARHGEF10_uc003wpv.2_Silent_p.I191I|ARHGEF10_uc010lre.2_Silent_p.I138I	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	483	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TATTTCAGATCGCGCTGGCCA	0.552												
CSMD1	64478	broad.mit.edu	37	8	3057289	3057289	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:3057289C>T	uc011kwk.1	-	33	5534	c.5144G>A	c.(5143-5145)CGA>CAA	p.R1715Q	CSMD1_uc011kwj.1_Missense_Mutation_p.R1107Q|CSMD1_uc003wqe.2_Missense_Mutation_p.R871Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1715	Extracellular (Potential).|CUB 10.					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)		TGCACTGAATCGGAGCAGAAT	0.512												
CSMD1	64478	broad.mit.edu	37	8	3224726	3224726	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:3224726G>A	uc011kwk.1	-	20	3336	c.2946C>T	c.(2944-2946)CAC>CAT	p.H982H	CSMD1_uc011kwj.1_Silent_p.H374H|CSMD1_uc003wqe.2_Silent_p.H138H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	982	Extracellular (Potential).|CUB 6.					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)		GTAAATAGTCGTGGGAACTCT	0.468												
ANGPT2	285	broad.mit.edu	37	8	6371335	6371335	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:6371335G>C	uc003wqj.3	-	7	1392	c.1063C>G	c.(1063-1065)CTG>GTG	p.L355V	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Missense_Mutation_p.L354V|ANGPT2_uc010lri.2_Missense_Mutation_p.L303V|ANGPT2_uc003wql.3_Missense_Mutation_p.L354V	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	355	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TCATTTCCCAGCCAATATTCT	0.358												
EFHA2	286097	broad.mit.edu	37	8	16884802	16884802	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:16884802G>A	uc003wxd.2	+	1	56	c.14G>A	c.(13-15)CGA>CAA	p.R5Q		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	5						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		GCTGCGCTGCGAAGGCTCTTG	0.622												
EFHA2	286097	broad.mit.edu	37	8	16884830	16884830	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:16884830G>A	uc003wxd.2	+	1	84	c.42G>A	c.(40-42)GTG>GTA	p.V14V		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	14						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		CACCCCGGGTGTCTCCTCCAC	0.672												
PSD3	23362	broad.mit.edu	37	8	18729874	18729874	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:18729874T>C	uc003wza.2	-	3	603	c.500A>G	c.(499-501)CAG>CGG	p.Q167R		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	167					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCCACCTGCTGAACTGAAAA	0.433												
INTS10	55174	broad.mit.edu	37	8	19680854	19680854	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:19680854G>A	uc003wzj.2	+	6	697	c.566G>A	c.(565-567)CGA>CAA	p.R189Q		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	189					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CATGATGTTCGATTACCTGCC	0.333												
NPM2	10361	broad.mit.edu	37	8	21892019	21892019	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:21892019A>G	uc003xab.2	+	7	1190	c.532_splice	c.e7-2	p.K178_splice	NPM2_uc003xac.2_Splice_Site_p.K178_splice|NPM2_uc003xad.2_Splice_Site_p.K178_splice|NPM2_uc003xae.2_Splice_Site_p.K178_splice|NPM2_uc003xaf.2_Splice_Site_p.E122_splice	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	nucleoplasmin 2						chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TTTGGTTCCCAGAAAAAAAAG	0.299												
PPP3CC	5533	broad.mit.edu	37	8	22368626	22368626	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:22368626A>G	uc003xbs.2	+	5	839	c.512A>G	c.(511-513)TAT>TGT	p.Y171C	PPP3CC_uc003xbr.1_Missense_Mutation_p.Y171C|PPP3CC_uc011kzi.1_Missense_Mutation_p.Y171C|PPP3CC_uc003xbt.2_Missense_Mutation_p.Y171C	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	171					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GAACAGGTGTATGATGCCTGT	0.403												
KIAA1967	57805	broad.mit.edu	37	8	22472983	22472983	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:22472983G>A	uc003xch.2	+	12	1388	c.1251G>A	c.(1249-1251)CGG>CGA	p.R417R	KIAA1967_uc003xci.2_Silent_p.R417R|KIAA1967_uc003xcj.1_Silent_p.R86R	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	417					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)		GACCCCCCCGGCGGCTTCAGA	0.587												
NEFM	4741	broad.mit.edu	37	8	24771944	24771944	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:24771944C>T	uc003xed.3	+	1	671	c.638C>T	c.(637-639)GCG>GTG	p.A213V	NEFM_uc011lac.1_Missense_Mutation_p.A213V|NEFM_uc010lue.2_5'Flank|uc010luc.1_Missense_Mutation_p.A42T	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	213	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCGAGGAGGCGTCGCTGGTC	0.647												
PNMA2	10687	broad.mit.edu	37	8	26366267	26366267	+	Missense_Mutation	SNP	G	G	A	rs147059463		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:26366267G>A	uc003xez.2	-	3	775	c.5C>T	c.(4-6)GCG>GTG	p.A2V		NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	paraneoplastic antigen MA2	2					apoptosis	nucleolus	protein binding				0		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		cagtgccagcgccattgtcct	0												
EPHX2	2053	broad.mit.edu	37	8	27396184	27396184	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:27396184A>G	uc003xfu.2	+	14	1332	c.1251A>G	c.(1249-1251)TTA>TTG	p.L417L	EPHX2_uc010lut.1_Silent_p.L417L|EPHX2_uc010luu.2_Silent_p.L385L|EPHX2_uc010luv.2_Silent_p.L351L|EPHX2_uc003xfv.2_Silent_p.L364L|EPHX2_uc010luw.2_Silent_p.L351L	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	417	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	AGAGTGTTTTATCCATGCATA	0.403												
EXTL3	2137	broad.mit.edu	37	8	28575348	28575348	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:28575348G>A	uc003xgz.1	+	3	2365	c.1772G>A	c.(1771-1773)CGC>CAC	p.R591H		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	591	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AGATACCTCCGCAATTTCACT	0.602												
EXTL3	2137	broad.mit.edu	37	8	28575431	28575431	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:28575431T>G	uc003xgz.1	+	3	2448	c.1855T>G	c.(1855-1857)TTT>GTT	p.F619V		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	619	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCACACTCCCTTTGACCCTGT	0.552												
KIF13B	23303	broad.mit.edu	37	8	28974382	28974382	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:28974382C>T	uc003xhh.3	-	31	3862	c.3803G>A	c.(3802-3804)CGC>CAC	p.R1268H	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1268					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GATTCTCTTGCGTAACACCAG	0.592												
KIF13B	23303	broad.mit.edu	37	8	29006250	29006250	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:29006250G>A	uc003xhh.3	-	16	1716	c.1657C>T	c.(1657-1659)CGA>TGA	p.R553*	KIF13B_uc003xhj.2_Nonsense_Mutation_p.R450*|KIF13B_uc010lvf.1_Nonsense_Mutation_p.R489*	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	553					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCATCCTCTCGTTCTGCTTTC	0.393												
FUT10	84750	broad.mit.edu	37	8	33310939	33310939	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:33310939C>T	uc003xje.2	-	3	527	c.171G>A	c.(169-171)ACG>ACA	p.T57T	FUT10_uc003xjc.2_Silent_p.T64T|FUT10_uc003xjd.2_Silent_p.T29T|FUT10_uc011lbi.1_Silent_p.T107T|FUT10_uc003xjf.2_5'UTR|FUT10_uc003xjg.2_Silent_p.T29T|FUT10_uc003xjh.2_Silent_p.T57T|FUT10_uc003xji.1_Silent_p.T57T	NM_032664	NP_116053	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10	57	Lumenal (Potential).				embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)|pancreas(1)	2				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AATTAAGATGCGTAGGTGCTT	0.418												
PROSC	11212	broad.mit.edu	37	8	37633536	37633536	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:37633536T>C	uc003xkh.2	+	7	773	c.696_splice	c.e7+2	p.A232_splice		NM_007198	NP_009129	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog								pyridoxal phosphate binding			central_nervous_system(1)	1		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CAGCATGCGGTGAGTGTCCTG	0.572												
WHSC1L1	54904	broad.mit.edu	37	8	38133883	38133883	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:38133883T>C	uc003xli.2	-	23	4521	c.4003A>G	c.(4003-4005)ATG>GTG	p.M1335V	WHSC1L1_uc011lbm.1_Missense_Mutation_p.M1324V|WHSC1L1_uc010lwe.2_Missense_Mutation_p.M1286V|WHSC1L1_uc003xlh.2_Missense_Mutation_p.M114V	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1335	PHD-type 4; atypical.				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)			TTGTCACACATGACCAGCTCT	0.433			T	NUP98	AML							
WHSC1L1	54904	broad.mit.edu	37	8	38205365	38205365	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:38205365T>C	uc003xli.2	-	2	843	c.325A>G	c.(325-327)ACT>GCT	p.T109A	WHSC1L1_uc011lbm.1_Missense_Mutation_p.T109A|WHSC1L1_uc010lwe.2_Missense_Mutation_p.T109A|WHSC1L1_uc003xlj.2_Missense_Mutation_p.T109A	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	109					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)			TAATAGTCAGTGGGGCTAAAG	0.423			T	NUP98	AML							
MCM4	4173	broad.mit.edu	37	8	48878898	48878898	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:48878898C>T	uc003xqk.1	+	9	1079	c.984C>T	c.(982-984)TGC>TGT	p.C328C	MCM4_uc003xql.1_Silent_p.C328C|MCM4_uc011ldi.1_Silent_p.C315C	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	328					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCAGTGTGTGCGGGCGCTGCC	0.642												
SNAI2	6591	broad.mit.edu	37	8	49832848	49832848	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:49832848C>T	uc003xqp.2	-	2	396	c.232G>A	c.(232-234)GGA>AGA	p.G78R		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	78					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GAGGAGTATCCGGAAAGAGGA	0.567												
SNTG1	54212	broad.mit.edu	37	8	51465608	51465608	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:51465608A>G	uc010lxy.1	+	13	1052	c.681_splice	c.e13-2	p.R227_splice	SNTG1_uc003xqs.1_Splice_Site_p.R227_splice|SNTG1_uc010lxz.1_Splice_Site_p.R227_splice|SNTG1_uc011ldl.1_Splice_Site	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GAACATCTGCAGGCAGAATGC	0.413												
RP1	6101	broad.mit.edu	37	8	55533898	55533898	+	Silent	SNP	G	G	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:55533898G>C	uc003xsd.1	+	2	520	c.372G>C	c.(370-372)CCG>CCC	p.P124P	RP1_uc011ldy.1_Silent_p.P124P	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	124					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTCGGCGCCCGCGGCCCTGGC	0.711												
RP1	6101	broad.mit.edu	37	8	55540617	55540617	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:55540617A>G	uc003xsd.1	+	4	4323	c.4175A>G	c.(4174-4176)AAT>AGT	p.N1392S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1392					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCACATCAAAATGTCAGTAAT	0.323												
XKR4	114786	broad.mit.edu	37	8	56015703	56015703	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:56015703G>A	uc003xsf.2	+	1	687	c.655G>A	c.(655-657)GCC>ACC	p.A219T		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	219						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGCATCTAACGCCAGCAAGAG	0.667												
TMEM68	137695	broad.mit.edu	37	8	56675290	56675290	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:56675290T>C	uc003xsg.1	-	1	298	c.229A>G	c.(229-231)AAG>GAG	p.K77E	TMEM68_uc003xsh.1_Missense_Mutation_p.K77E|TMEM68_uc003xsi.1_Missense_Mutation_p.K77E	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	transmembrane protein 68	77						integral to membrane	acyltransferase activity			skin(1)	1			Epithelial(17;0.000361)|all cancers(17;0.00326)			AATACATTCTTTCTCTTATAA	0.358												
CHD7	55636	broad.mit.edu	37	8	61654851	61654851	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:61654851C>T	uc003xue.2	+	2	1337	c.860C>T	c.(859-861)CCG>CTG	p.P287L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	287					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)			GCTGTTAGGCCGCAAACCCTT	0.512												
MYBL1	4603	broad.mit.edu	37	8	67488263	67488263	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:67488263T>C	uc003xwj.2	-	10	1856	c.1449A>G	c.(1447-1449)ACA>ACG	p.T483T	MYBL1_uc003xwl.2_Silent_p.T483T|MYBL1_uc003xwk.2_Silent_p.T482T	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	483	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AAAATGGTAGTGTTTTCAGTG	0.393												
MYBL1	4603	broad.mit.edu	37	8	67488564	67488564	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:67488564G>T	uc003xwj.2	-	10	1555	c.1148C>A	c.(1147-1149)GCT>GAT	p.A383D	MYBL1_uc003xwl.2_Missense_Mutation_p.A383D|MYBL1_uc003xwk.2_Missense_Mutation_p.A382D	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	383	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AGAAGCAGCAGCATCAGAAAT	0.373												
PREX2	80243	broad.mit.edu	37	8	68992720	68992720	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:68992720G>A	uc003xxv.1	+	16	1712	c.1685G>A	c.(1684-1686)CGT>CAT	p.R562H	PREX2_uc003xxu.1_Missense_Mutation_p.R562H|PREX2_uc011lez.1_Missense_Mutation_p.R497H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CTACTTTTCCGTTTTTTTTCG	0.328												
CRISPLD1	83690	broad.mit.edu	37	8	75898439	75898439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:75898439C>T	uc003yan.2	+	2	592	c.217C>T	c.(217-219)CGA>TGA	p.R73*		NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	73						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAATAAATTACGAAGTCAGGT	0.398												
KIAA1429	25962	broad.mit.edu	37	8	95539493	95539493	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:95539493C>T	uc003ygo.1	-	8	992	c.979G>A	c.(979-981)GCT>ACT	p.A327T	KIAA1429_uc003ygp.2_Missense_Mutation_p.A327T|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	327					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AAGTCTTCAGCAGTGTATTCA	0.383												
CCNE2	9134	broad.mit.edu	37	8	95902778	95902778	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:95902778G>T	uc003yhc.2	-	6	427	c.318C>A	c.(316-318)AGC>AGA	p.S106R	CCNE2_uc003yhd.2_Missense_Mutation_p.S106R	NM_057749	NP_477097	O96020	CCNE2_HUMAN	cyclin E2	106					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding				0	Breast(36;8.75e-07)					AACATCCCCAGCTATGGAAAG	0.239												
MATN2	4147	broad.mit.edu	37	8	99030292	99030292	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:99030292G>A	uc003yic.2	+	12	1998	c.1767G>A	c.(1765-1767)ACG>ACA	p.T589T	MATN2_uc010mbh.1_Silent_p.T548T|MATN2_uc003yid.2_Silent_p.T589T|MATN2_uc003yie.1_Silent_p.T589T|MATN2_uc010mbi.1_Silent_p.T422T|MATN2_uc010mbj.1_Silent_p.T88T	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	589	EGF-like 9.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACTCATACACGTGCGAGTGCT	0.498												
MATN2	4147	broad.mit.edu	37	8	99033533	99033533	+	Silent	SNP	T	T	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:99033533T>G	uc003yic.2	+	13	2151	c.1920T>G	c.(1918-1920)GCT>GCG	p.A640A	MATN2_uc010mbh.1_Silent_p.A599A|MATN2_uc003yid.2_Silent_p.A640A|MATN2_uc003yie.1_Silent_p.A640A|MATN2_uc010mbi.1_Silent_p.A473A|MATN2_uc010mbj.1_Silent_p.A139A	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	640	EGF-like 10.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TTGTTCTAGCTGAGGACGGAA	0.428												
POP1	10940	broad.mit.edu	37	8	99146739	99146739	+	Missense_Mutation	SNP	G	G	A	rs144135573		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:99146739G>A	uc003yij.3	+	7	963	c.863G>A	c.(862-864)CGC>CAC	p.R288H	POP1_uc011lgv.1_Missense_Mutation_p.R288H|POP1_uc003yik.2_Missense_Mutation_p.R288H	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	288					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TCTGGAAAGCGCCAAGGGAGC	0.493												
SNX31	169166	broad.mit.edu	37	8	101648123	101648123	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:101648123A>G	uc003yjr.2	-	3	407	c.256_splice	c.e3+1	p.V86_splice		NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31						cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GCAAATACATACCATTTTGCA	0.269												
ZFPM2	23414	broad.mit.edu	37	8	106811058	106811058	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:106811058G>A	uc003ymd.2	+	7	869	c.846G>A	c.(844-846)CCG>CCA	p.P282P	ZFPM2_uc011lhs.1_Silent_p.P13P|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	282					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AAGCTGCTCCGGTGTCAGAGG	0.517												
TRPS1	7227	broad.mit.edu	37	8	116427046	116427046	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:116427046C>T	uc003ynz.2	-	6	3510	c.3051G>A	c.(3049-3051)CAG>CAA	p.Q1017Q	TRPS1_uc011lhy.1_Silent_p.Q1021Q|TRPS1_uc003yny.2_Silent_p.Q1030Q|TRPS1_uc010mcy.2_Silent_p.Q1017Q	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1017	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGACTGGCTGCTGAGCAGAAT	0.448									Langer-Giedion_syndrome			
RAD21	5885	broad.mit.edu	37	8	117861199	117861199	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:117861199G>A	uc003yod.2	-	13	1978	c.1690C>T	c.(1690-1692)CTT>TTT	p.L564F		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	564					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)					AGACCATGAAGCATCTGCTGA	0.423												
MTSS1	9788	broad.mit.edu	37	8	125565703	125565703	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:125565703G>A	uc003yrk.2	-	14	2332	c.1798C>T	c.(1798-1800)CGC>TGC	p.R600C	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.R249C|MTSS1_uc011lin.1_Missense_Mutation_p.R374C|MTSS1_uc011lio.1_Missense_Mutation_p.R490C|MTSS1_uc003yri.2_Missense_Mutation_p.R318C|MTSS1_uc003yrj.2_Missense_Mutation_p.R575C|MTSS1_uc003yrl.2_Missense_Mutation_p.R604C	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	600					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTCCCCGGCGGACAGAAGGC	0.637												
ADCY8	114	broad.mit.edu	37	8	131916225	131916225	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:131916225G>A	uc003ytd.3	-	7	1960	c.1704C>T	c.(1702-1704)GGC>GGT	p.G568G	ADCY8_uc010mds.2_Silent_p.G568G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	568	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)			CTTTACCATGGCCCTCTTCCA	0.458										HNSCC(32;0.087)		
ADCY8	114	broad.mit.edu	37	8	132002688	132002688	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:132002688C>A	uc003ytd.3	-	2	1317	c.1061G>T	c.(1060-1062)CGG>CTG	p.R354L	ADCY8_uc010mds.2_Missense_Mutation_p.R354L	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)			CACACACCTCCGAGTCTCCAG	0.532										HNSCC(32;0.087)		
PHF20L1	51105	broad.mit.edu	37	8	133854799	133854799	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:133854799C>T	uc003ytt.2	+	19	2752	c.2427C>T	c.(2425-2427)TCC>TCT	p.S809S	PHF20L1_uc011lja.1_Silent_p.S783S	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	809							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGGCTTGTTCCGGGAAGCGAA	0.353												
ZFAT	57623	broad.mit.edu	37	8	135614475	135614475	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:135614475T>A	uc003yup.2	-	6	1662	c.1487A>T	c.(1486-1488)CAG>CTG	p.Q496L	ZFAT_uc003yun.2_Missense_Mutation_p.Q484L|ZFAT_uc003yuo.2_Missense_Mutation_p.Q484L|ZFAT_uc010meh.2_Missense_Mutation_p.Q484L|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.Q484L|ZFAT_uc010mej.2_Missense_Mutation_p.Q434L|ZFAT_uc003yur.2_Missense_Mutation_p.Q484L	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCAGAAGCTCTGGTTGATGGA	0.597												
EIF2C2	27161	broad.mit.edu	37	8	141561427	141561427	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:141561427G>A	uc003yvn.2	-	11	1418	c.1378C>T	c.(1378-1380)CGC>TGC	p.R460C	EIF2C2_uc010men.2_Missense_Mutation_p.R383C|EIF2C2_uc010meo.2_Missense_Mutation_p.R460C	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	460					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)			GTGCACTGGCGCTGGGGGGCG	0.642												
SLC45A4	57210	broad.mit.edu	37	8	142221613	142221613	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:142221613G>T	uc003ywd.1	-	8	2633	c.2325C>A	c.(2323-2325)CCC>CCA	p.P775P	SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_3'UTR	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	Error:Variant_position_missing_in_Q5BKX6_after_alignment					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCCAAGGACAGGGCTGCCCTG	0.532												
LY6D	8581	broad.mit.edu	37	8	143866642	143866642	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:143866642G>T	uc003yxf.1	-	3	458	c.382C>A	c.(382-384)CTG>ATG	p.L128M		NM_003695	NP_003686	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D precursor	128					cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding				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)					GAAGGTCACAGGCTGGGGGCT	0.677												
GLI4	2738	broad.mit.edu	37	8	144351661	144351661	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:144351661C>A	uc003yxx.2	+	2	180	c.95C>A	c.(94-96)CCT>CAT	p.P32H	ZFP41_uc003yxv.2_Intron	NM_138465	NP_612474	P10075	GLI4_HUMAN	GLI-Kruppel family member GLI4	32						nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CACCACGAGCCTCAGCTTCAC	0.637												
TSTA3	7264	broad.mit.edu	37	8	144695702	144695702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:144695702C>A	uc003yza.2	-	9	838	c.802G>T	c.(802-804)GAA>TAA	p.E268*	TSTA3_uc003yzb.2_Nonsense_Mutation_p.E268*	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	268					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	ACGGTGACTTCCCCATGGAAG	0.687												
DMRT3	58524	broad.mit.edu	37	9	990661	990661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:990661C>T	uc003zgw.1	+	2	1113	c.1075C>T	c.(1075-1077)CAG>TAG	p.Q359*		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	359					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)		TGGGCCTCTGCAGCCCCCTTT	0.582												
ELAVL2	1993	broad.mit.edu	37	9	23762085	23762085	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:23762085T>C	uc003zpu.2	-	2	423	c.148A>G	c.(148-150)ATG>GTG	p.M50V	ELAVL2_uc003zps.2_Missense_Mutation_p.M50V|ELAVL2_uc003zpt.2_Missense_Mutation_p.M50V|ELAVL2_uc003zpv.2_Missense_Mutation_p.M50V|ELAVL2_uc003zpw.2_Missense_Mutation_p.M50V	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	50	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TCCTGTGTCATGTTCTGAGGA	0.418												
TOPORS	10210	broad.mit.edu	37	9	32544006	32544006	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:32544006T>C	uc003zrb.2	-	3	684	c.517A>G	c.(517-519)ACC>GCC	p.T173A	TOPORS_uc003zrc.2_Missense_Mutation_p.T106A	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	173	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CGATCAGGGGTGACAAAAGAA	0.438												
FANCG	2189	broad.mit.edu	37	9	35077266	35077266	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:35077266C>T	uc003zwb.1	-	5	1133	c.641G>A	c.(640-642)CGC>CAC	p.R214H	FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.R214H	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	214					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGACCTTGGCGGTAGGCAAA	0.517			Mis|N|F|S			AML|leukemia		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
RUSC2	9853	broad.mit.edu	37	9	35547551	35547551	+	Silent	SNP	A	A	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:35547551A>C	uc003zww.2	+	2	1288	c.1033A>C	c.(1033-1035)AGG>CGG	p.R345R	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.R345R	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	345						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AAGTGGAGGAAGGGAAGGGGG	0.572												
CA9	768	broad.mit.edu	37	9	35676071	35676071	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:35676071C>A	uc003zxo.3	+	4	657	c.615C>A	c.(613-615)ACC>ACA	p.T205T	C9orf100_uc003zxl.2_5'Flank|CA9_uc003zxp.3_Silent_p.T205T	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	205	Extracellular.|Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCAACTGACCCTGCCTCCTG	0.716												
GNE	10020	broad.mit.edu	37	9	36217375	36217375	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:36217375C>T	uc010mlh.2	-	12	2371	c.2156G>A	c.(2155-2157)CGC>CAC	p.R719H	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.R645H|GNE_uc011lpl.1_Missense_Mutation_p.R609H|GNE_uc010mli.2_Missense_Mutation_p.R750H|GNE_uc010mlj.2_Missense_Mutation_p.R714H	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	719	UDP-N-acetylglucosamine 2-epimerase.|N-acetylmannosamine kinase.				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)			GTAGATCCTGCGTGTTGTGTA	0.532												
POLR1E	64425	broad.mit.edu	37	9	37489339	37489339	+	Silent	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:37489339C>A	uc003zzz.1	+	3	759	c.471C>A	c.(469-471)ACC>ACA	p.T157T	POLR1E_uc011lqj.1_Silent_p.T95T|POLR1E_uc003zzy.1_Silent_p.T95T|POLR1E_uc011lqk.1_5'UTR	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	RNA polymerase I associated factor 53	157					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding				0				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TGAACAAGACCTCTGGCCAAA	0.333												
C9orf71	169693	broad.mit.edu	37	9	71155631	71155631	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:71155631A>G	uc004agt.2	-	1	153	c.100T>C	c.(100-102)TTC>CTC	p.F34L		NM_153237	NP_694969	Q8N6L7	CI071_HUMAN	hypothetical protein LOC169693	34						integral to membrane					0						TGACAGTCGAATATGGAGCCC	0.537												
APBA1	320	broad.mit.edu	37	9	72067197	72067197	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:72067197G>T	uc004ahh.2	-	9	2085	c.1809C>A	c.(1807-1809)TCC>TCA	p.S603S		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	603	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						CCTGTCCGATGGACTGTGCAA	0.557												
KLF9	687	broad.mit.edu	37	9	73002896	73002896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:73002896C>T	uc004aht.2	-	2	1825	c.531G>A	c.(529-531)TGG>TGA	p.W177*		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Kruppel-like factor 9	177	C2H2-type 2.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGCAGTCTGGCCACGTGCAGG	0.527												
PRUNE2	158471	broad.mit.edu	37	9	79325430	79325430	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:79325430A>G	uc010mpk.2	-	8	1884	c.1760T>C	c.(1759-1761)CTG>CCG	p.L587P		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	587					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						AAAATCTGTCAGGCTCAAATT	0.448												
VPS13A	23230	broad.mit.edu	37	9	79853105	79853105	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:79853105G>A	uc004akr.2	+	18	2043	c.1783G>A	c.(1783-1785)GCA>ACA	p.A595T	VPS13A_uc004akp.3_Missense_Mutation_p.A595T|VPS13A_uc004akq.3_Missense_Mutation_p.A595T|VPS13A_uc004aks.2_Missense_Mutation_p.A595T	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	595					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						CATATATGATGCAGTAAGCAT	0.269												
DAPK1	1612	broad.mit.edu	37	9	90321730	90321730	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:90321730C>T	uc004apc.2	+	26	3882	c.3744C>T	c.(3742-3744)CCC>CCT	p.P1248P	DAPK1_uc004apd.2_Silent_p.P1248P|DAPK1_uc011ltg.1_Silent_p.P1182P|DAPK1_uc011lth.1_Silent_p.P985P|DAPK1_uc004apg.2_Silent_p.P225P	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1248					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						ACCATGAGCCCGTCATGATCT	0.592									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of			
SEMA4D	10507	broad.mit.edu	37	9	92003641	92003641	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:92003641G>A	uc004aqo.1	-	13	1589	c.1017C>T	c.(1015-1017)CAC>CAT	p.H339H	SEMA4D_uc011ltm.1_Silent_p.H339H|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.H337H	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	339	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						TGTACTTCCCGTGGGAGAAGA	0.642												
ROR2	4920	broad.mit.edu	37	9	94493365	94493365	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:94493365C>T	uc004arj.1	-	7	1209	c.1010G>A	c.(1009-1011)TGC>TAC	p.C337Y	ROR2_uc004ari.1_Missense_Mutation_p.C197Y|ROR2_uc004ark.2_Missense_Mutation_p.C337Y	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	337	Extracellular (Potential).|Kringle.				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						CCACGGCTGGCACTGGTGGCC	0.607												
CDC14B	8555	broad.mit.edu	37	9	99284796	99284796	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:99284796A>G	uc004awj.2	-	12	1787	c.1335T>C	c.(1333-1335)ATT>ATC	p.I445I	CDC14B_uc004awk.2_Silent_p.I445I|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Silent_p.I408I	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	445					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				ACGTGAGAGGAATAGCGTTTG	0.428												
KIAA1529	57653	broad.mit.edu	37	9	100057269	100057269	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:100057269G>A	uc011lut.1	+	12	1166	c.393G>A	c.(391-393)TCG>TCA	p.S131S	KIAA1529_uc011lur.1_RNA|KIAA1529_uc004axe.1_Silent_p.S131S|KIAA1529_uc011lus.1_Intron|KIAA1529_uc010msm.1_RNA	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				taaatcaatcggcaggtaacg	0.358												
KIAA1529	57653	broad.mit.edu	37	9	100105645	100105645	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:100105645A>G	uc011lut.1	+	31	3620	c.2847A>G	c.(2845-2847)CTA>CTG	p.L949L	KIAA1529_uc004axe.1_Silent_p.L949L|KIAA1529_uc004axg.1_Silent_p.L810L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Silent_p.L134L|KIAA1529_uc004axf.2_Silent_p.L810L	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				AAGAGGGTCTAGAGGAGATAT	0.428												
ACTL7B	10880	broad.mit.edu	37	9	111617947	111617947	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:111617947G>A	uc004bdi.2	-	1	329	c.264C>T	c.(262-264)GAC>GAT	p.D88D		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	88						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						TGTCGCCAGCGTCGGCCGCCT	0.657												
SVEP1	79987	broad.mit.edu	37	9	113190032	113190032	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:113190032C>A	uc010mtz.2	-	36	6151	c.5814G>T	c.(5812-5814)CAG>CAT	p.Q1938H	SVEP1_uc010mty.2_Translation_Start_Site	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1938	Sushi 9.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TGGAAGGGCCCTGTAAGCTGC	0.478											OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PTGR1	22949	broad.mit.edu	37	9	114332454	114332454	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:114332454G>A	uc004bfh.2	-	9	899	c.796C>T	c.(796-798)CGC>TGC	p.R266C	ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.1_Missense_Mutation_p.R266C|PTGR1_uc004bfi.3_Missense_Mutation_p.R266C|PTGR1_uc004bfj.3_Missense_Mutation_p.R143C|PTGR1_uc010mue.2_Missense_Mutation_p.R266C	NM_012212	NP_036344	Q14914	PTGR1_HUMAN	prostaglandin reductase 1 isoform 1	266					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding				0						GCTTCCATGCGAAGCTCCTGA	0.532												
C9orf43	257169	broad.mit.edu	37	9	116187657	116187657	+	Missense_Mutation	SNP	A	A	G	rs140460592		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:116187657A>G	uc004bho.3	+	10	1295	c.899A>G	c.(898-900)CAG>CGG	p.Q300R	C9orf43_uc004bhp.2_Missense_Mutation_p.Q300R	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	300	Gln-rich.										0						cagcagcagcagcagcagcaa	0.438												
ASTN2	23245	broad.mit.edu	37	9	119413907	119413907	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:119413907C>T	uc004bjs.1	-	17	3073	c.2972G>A	c.(2971-2973)CGC>CAC	p.R991H	ASTN2_uc004bjr.1_Missense_Mutation_p.R987H|ASTN2_uc004bjt.1_Missense_Mutation_p.R940H|ASTN2_uc004bjp.1_Missense_Mutation_p.R84H|ASTN2_uc004bjq.1_Missense_Mutation_p.R43H|ASTN2_uc011lxr.1_Missense_Mutation_p.R43H|ASTN2_uc011lxs.1_Missense_Mutation_p.R43H|ASTN2_uc011lxt.1_Missense_Mutation_p.R43H|ASTN2_uc004bjv.1_Missense_Mutation_p.R43H	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	991	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GCCTGGCCGGCGGCAAAGGTG	0.562												
CDK5RAP2	55755	broad.mit.edu	37	9	123165314	123165314	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:123165314C>T	uc004bkf.2	-	34	5258	c.5077G>A	c.(5077-5079)GAC>AAC	p.D1693N	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.D702N|CDK5RAP2_uc004bke.2_Missense_Mutation_p.D978N|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.D1614N|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.D958N|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.D958N|CDK5RAP2_uc011lya.1_Missense_Mutation_p.D958N|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.D1463N	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1693					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						GAGAGGGAGTCCGTGTCATTC	0.537												
MEGF9	1955	broad.mit.edu	37	9	123370165	123370165	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:123370165C>T	uc004bkj.1	-	7	1322	c.1322G>A	c.(1321-1323)GGC>GAC	p.G441D	MEGF9_uc011lyb.1_Missense_Mutation_p.G396D	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	404	Laminin EGF-like 5.|Extracellular (Potential).					integral to membrane	calcium ion binding				0						GTCCACATGGCCGTGACATTG	0.448												
NDUFA8	4702	broad.mit.edu	37	9	124906542	124906542	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:124906542C>T	uc004blv.2	-	4	639	c.497G>A	c.(496-498)CGC>CAC	p.R166H		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	166					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)	GAAATAAAAGCGGCTGCCATG	0.542												
OR1Q1	158131	broad.mit.edu	37	9	125377119	125377119	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:125377119T>C	uc011lyy.1	+	1	103	c.103T>C	c.(103-105)TAC>CAC	p.Y35H		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTCACTCATGTACGCAATCAA	0.483												
RC3H2	54542	broad.mit.edu	37	9	125618021	125618021	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:125618021G>A	uc010mwc.1	-	14	2832	c.2591C>T	c.(2590-2592)GCT>GTT	p.A864V	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.A864V|RC3H2_uc004bne.3_Missense_Mutation_p.A864V	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	864						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						CATTAACACAGCATTTGAATT	0.408												
RABGAP1	23637	broad.mit.edu	37	9	125758824	125758824	+	Silent	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:125758824T>C	uc011lzh.1	+	8	1175	c.1041T>C	c.(1039-1041)TTT>TTC	p.F347F	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	347					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						GTAGGTGTTTTGGTCTTCTCC	0.284												
DENND1A	57706	broad.mit.edu	37	9	126319911	126319911	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:126319911C>T	uc004bnz.1	-	13	1164	c.931G>A	c.(931-933)GCG>ACG	p.A311T	DENND1A_uc011lzl.1_Intron|DENND1A_uc004bny.1_Missense_Mutation_p.A128T|DENND1A_uc011lzm.1_Missense_Mutation_p.A279T|DENND1A_uc004boa.1_Missense_Mutation_p.A311T|DENND1A_uc004bob.1_Missense_Mutation_p.A281T|DENND1A_uc004boc.2_Missense_Mutation_p.A279T	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	311	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2						TTGAGGAACGCTCTGGCCACA	0.532												
GARNL3	84253	broad.mit.edu	37	9	130111247	130111247	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:130111247C>T	uc011mae.1	+	17	1877	c.1476C>T	c.(1474-1476)GCC>GCT	p.A492A	GARNL3_uc011mad.1_Silent_p.A470A	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	492	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CTCATGAAGCCGTGTGTGCAG	0.512												
SH2D3C	10044	broad.mit.edu	37	9	130507072	130507072	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:130507072C>A	uc004bsc.2	-	7	1713	c.1571G>T	c.(1570-1572)AGG>ATG	p.R524M	SH2D3C_uc010mxo.2_Missense_Mutation_p.R364M|SH2D3C_uc004bry.2_Missense_Mutation_p.R366M|SH2D3C_uc004brz.3_Missense_Mutation_p.R170M|SH2D3C_uc011mak.1_Missense_Mutation_p.R170M|SH2D3C_uc004bsa.2_Missense_Mutation_p.R367M|SH2D3C_uc004bsb.2_Missense_Mutation_p.R456M	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	524					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						TTCCTTTAGCCTCTCCCCATA	0.622												
C9orf119	375757	broad.mit.edu	37	9	131038511	131038511	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:131038511C>T	uc004bup.2	+	1	87	c.87C>T	c.(85-87)GGC>GGT	p.G29G	GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Silent_p.G29G	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	29					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0						GGGAGAGGGGCGGGGCCGGCT	0.682												
SPTAN1	6709	broad.mit.edu	37	9	131351145	131351145	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:131351145G>A	uc004bvl.3	+	21	3042	c.2929G>A	c.(2929-2931)GAC>AAC	p.D977N	SPTAN1_uc011mbg.1_Missense_Mutation_p.D977N|SPTAN1_uc011mbh.1_Missense_Mutation_p.D989N|SPTAN1_uc004bvm.3_Missense_Mutation_p.D977N|SPTAN1_uc004bvn.3_Missense_Mutation_p.D977N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	977	SH3.				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						GGCTCTCTACGACTATCAGGA	0.512												
LRRC8A	56262	broad.mit.edu	37	9	131670898	131670898	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:131670898G>A	uc004bwl.3	+	3	1709	c.1455G>A	c.(1453-1455)GCG>GCA	p.A485A	LRRC8A_uc010myp.2_Silent_p.A485A|LRRC8A_uc010myq.2_Silent_p.A485A	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	485	LRR 5.				pre-B cell differentiation	integral to membrane					0						AGATTGAAGCGCCCGCGCTGG	0.617												
ASS1	445	broad.mit.edu	37	9	133355118	133355118	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:133355118T>C	uc004bzm.2	+	11	1060	c.704T>C	c.(703-705)GTG>GCG	p.V235A	ASS1_uc004bzn.2_Missense_Mutation_p.V235A|ASS1_uc010mza.2_Missense_Mutation_p.V311A|ASS1_uc004bzo.2_Missense_Mutation_p.V216A|ASS1_uc010mzb.2_Missense_Mutation_p.V273A|ASS1_uc004bzp.2_Missense_Mutation_p.V235A|ASS1_uc010mzc.2_Missense_Mutation_p.V235A	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	235					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCTGTGAAGGTGACCAACGTC	0.647												
POMT1	10585	broad.mit.edu	37	9	134397509	134397509	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:134397509T>C	uc004cav.2	+	19	2169	c.1967T>C	c.(1966-1968)CTG>CCG	p.L656P	POMT1_uc004cax.2_Missense_Mutation_p.L634P|POMT1_uc011mcj.1_Missense_Mutation_p.L374P|POMT1_uc004cau.2_Missense_Mutation_p.L634P|POMT1_uc004caw.2_Missense_Mutation_p.L580P|POMT1_uc011mck.1_Missense_Mutation_p.L517P|POMT1_uc011mcl.1_Missense_Mutation_p.L482P|POMT1_uc011mcm.1_Missense_Mutation_p.L604P	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	656	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)		CCGTTCTTCCTGATGGAGAAG	0.602												
TSC1	7248	broad.mit.edu	37	9	135786042	135786042	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:135786042G>T	uc004cca.2	-	12	1413	c.1179C>A	c.(1177-1179)ACC>ACA	p.T393T	TSC1_uc004ccb.3_Silent_p.T392T|TSC1_uc011mcq.1_Silent_p.T342T|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Silent_p.T272T|TSC1_uc004ccc.1_Silent_p.T393T	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	393					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAGGAGGAGAGGTTGCTGGGG	0.532			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
COL5A1	1289	broad.mit.edu	37	9	137591908	137591908	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:137591908C>T	uc004cfe.2	+	3	813	c.431C>T	c.(430-432)ACG>ATG	p.T144M		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	144	TSP N-terminal.|Laminin G-like.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGACCACACGGGGAAGCCT	0.627												
COL5A1	1289	broad.mit.edu	37	9	137657580	137657580	+	Silent	SNP	C	C	T	rs146757272		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:137657580C>T	uc004cfe.2	+	21	2470	c.2088C>T	c.(2086-2088)CCC>CCT	p.P696P		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	696	Triple-helical region.			PPGPPGVT -> VTGEPGAP (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGACCTCCCGTAAGTCCCA	0.632												
SOHLH1	402381	broad.mit.edu	37	9	138588520	138588520	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:138588520G>T	uc004cgl.2	-	5	660	c.599C>A	c.(598-600)ACG>AAG	p.T200K	SOHLH1_uc010nbe.2_Missense_Mutation_p.T200K	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	200					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)		ACACTTGTCCGTGCCCAGGGA	0.682												
UAP1L1	91373	broad.mit.edu	37	9	139975224	139975224	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:139975224G>A	uc010ncb.2	+	7	1294	c.1262G>A	c.(1261-1263)CGC>CAC	p.R421H	UAP1L1_uc004cla.3_Missense_Mutation_p.R298H	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like	421							nucleotidyltransferase activity			ovary(1)	1	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GACAGTCCCCGCACCGCTCGC	0.677												
PNPLA7	375775	broad.mit.edu	37	9	140361857	140361857	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:140361857C>T	uc004cnf.2	-	25	3213	c.2876G>A	c.(2875-2877)GGC>GAC	p.G959D	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.G225D|PNPLA7_uc004cne.1_Missense_Mutation_p.G225D|PNPLA7_uc011mfa.1_Missense_Mutation_p.G367D|PNPLA7_uc010ncj.1_Missense_Mutation_p.G984D	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	959	Patatin.|GXSXG.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GATGGACGTGCCTCCCACCAT	0.647												
PLCXD1	55344	broad.mit.edu	37	X	215824	215824	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:215824C>T	uc004cpc.2	+	7	1106	c.794C>T	c.(793-795)CCG>CTG	p.P265L	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	265					intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGCGCACCCGTCCGAGTCC	0.657												
CSF2RA	1438	broad.mit.edu	37	X	1413263	1413263	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:1413263C>T	uc010nct.2	+	9	1011	c.689C>T	c.(688-690)ACG>ATG	p.T230M	CSF2RA_uc011mhb.1_Missense_Mutation_p.T230M|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.T230M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T230M|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.T97M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T230M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T230M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T230M	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	230	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGTTGCAACACGACGCACTGC	0.572												
SLC25A6	293	broad.mit.edu	37	X	1506203	1506203	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:1506203C>T	uc004cpt.2	-	3	804	c.708G>A	c.(706-708)CGG>CGA	p.R236R	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	236	Helical; Name=5; (By similarity).|Substrate recognition (By similarity).|Solcar 3.				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TCATCATGCGCCGCCGCACCG	0.687												
ASMT	438	broad.mit.edu	37	X	1734120	1734120	+	Missense_Mutation	SNP	C	C	T	rs143703303		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:1734120C>T	uc004cqd.2	+	2	173	c.28C>T	c.(28-30)CGC>TGC	p.R10C	ASMT_uc010ncy.2_Missense_Mutation_p.R10C|ASMT_uc004cqe.2_Missense_Mutation_p.R10C	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	10					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGGCCTATCGCCTCCTTAA	0.572												
ARSF	416	broad.mit.edu	37	X	2998955	2998955	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:2998955C>T	uc004cre.1	+	5	528	c.307C>T	c.(307-309)CGT>TGT	p.R103C	ARSF_uc004crf.1_Missense_Mutation_p.R103C	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	103						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGTAATAGACGTGTCATCCA	0.398												
NLGN4X	57502	broad.mit.edu	37	X	5821684	5821684	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:5821684G>A	uc010ndh.2	-	5	1536	c.1035C>T	c.(1033-1035)GAC>GAT	p.D345D	NLGN4X_uc004crp.2_Silent_p.D365D|NLGN4X_uc004crq.2_Silent_p.D345D|NLGN4X_uc010ndi.2_Silent_p.D382D|NLGN4X_uc004crr.2_Silent_p.D345D|NLGN4X_uc010ndj.2_Silent_p.D345D	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	345	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						TGACGTCGCCGTCGATCACCG	0.587												
PCYT1B	9468	broad.mit.edu	37	X	24593350	24593350	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:24593350T>C	uc004dbi.2	-	7	1027	c.794A>G	c.(793-795)AAC>AGC	p.N265S	PCYT1B_uc004dbk.3_Missense_Mutation_p.N265S|PCYT1B_uc004dbj.2_Missense_Mutation_p.N247S	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	choline phosphate cytidylyltransferase 1 beta	265						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)	TTCCACTCTGTTCACAAATTC	0.413												
MAGEB10	139422	broad.mit.edu	37	X	27839447	27839447	+	Silent	SNP	A	A	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:27839447A>G	uc004dbw.2	+	3	251	c.24A>G	c.(22-24)AAA>AAG	p.K8K		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	8										lung(1)|breast(1)|central_nervous_system(1)	3						AGAAGAGTAAACTCCGTGCCA	0.527												
FGD1	2245	broad.mit.edu	37	X	54491964	54491964	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:54491964C>T	uc004dtg.2	-	8	2290	c.1556G>A	c.(1555-1557)CGC>CAC	p.R519H	FGD1_uc011moi.1_Missense_Mutation_p.R277H	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	519	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GCGGGGGATGCGCTGCACAGG	0.582												
PFKFB1	5207	broad.mit.edu	37	X	54964064	54964064	+	Missense_Mutation	SNP	G	G	A	rs140853589		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:54964064G>A	uc004dty.1	-	11	1263	c.1192C>T	c.(1192-1194)CGG>TGG	p.R398W	PFKFB1_uc010nkd.1_Missense_Mutation_p.R206W|PFKFB1_uc011mol.1_Missense_Mutation_p.R333W	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	398	Fructose-2,6-bisphosphatase.			MR -> HA (in Ref. 5; AAA35818).	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						AGGAGGCACCGCATGACAGCC	0.478												
SPIN4	139886	broad.mit.edu	37	X	62570234	62570234	+	Silent	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:62570234G>T	uc004dvf.2	-	1	985	c.465C>A	c.(463-465)ACC>ACA	p.T155T		NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN	spindlin family, member 4	155					gamete generation					ovary(1)|lung(1)	2						CTTTCTCGTAGGTGATGTAAA	0.448												
ARHGEF9	23229	broad.mit.edu	37	X	62893974	62893974	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:62893974G>A	uc004dvl.2	-	6	1707	c.868C>T	c.(868-870)CGT>TGT	p.R290C	ARHGEF9_uc004dvj.1_Missense_Mutation_p.R179C|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R152C|ARHGEF9_uc011mos.1_Missense_Mutation_p.R269C|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R269C|ARHGEF9_uc011mot.1_Missense_Mutation_p.R237C|ARHGEF9_uc004dvn.2_Missense_Mutation_p.R297C	NM_015185	NP_056000	O43307	ARHG9_HUMAN	Cdc42 guanine exchange factor 9	290					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						TTCTCTAAACGTCGCTTGCGT	0.453												
EDA2R	60401	broad.mit.edu	37	X	65822496	65822496	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:65822496A>C	uc004dwq.2	-	4	507	c.496T>G	c.(496-498)TTC>GTC	p.F166V	EDA2R_uc004dwr.2_Missense_Mutation_p.F166V|EDA2R_uc004dws.2_Missense_Mutation_p.F166V|EDA2R_uc011mpb.1_Intron|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Missense_Mutation_p.F166V|EDA2R_uc004dwt.1_Missense_Mutation_p.F166V	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN	X-linked ectodysplasin receptor	166	Cytoplasmic (Potential).				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			upper_aerodigestive_tract(1)	1						TGTCTGTTGAAGAACTGCTTG	0.532												
CDX4	1046	broad.mit.edu	37	X	72667577	72667577	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:72667577C>T	uc011mqk.1	+	1	488	c.488C>T	c.(487-489)ACG>ATG	p.T163M		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(35;0.156)					ATGCGCAAGACGGTGCAGGTG	0.627												
TRMT2B	79979	broad.mit.edu	37	X	100277016	100277016	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:100277016T>A	uc004egq.2	-	8	1091	c.792A>T	c.(790-792)GAA>GAT	p.E264D	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.E264D|TRMT2B_uc004egs.2_Missense_Mutation_p.E264D|TRMT2B_uc004egt.2_Missense_Mutation_p.E264D|TRMT2B_uc004egu.2_Missense_Mutation_p.E145D|TRMT2B_uc004egv.2_Missense_Mutation_p.E219D	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	264							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1						TGATGAAAAATTCCTTTACAA	0.458												
HNRNPH2	3188	broad.mit.edu	37	X	100667763	100667763	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:100667763G>A	uc004ehm.2	+	2	957	c.787G>A	c.(787-789)GAC>AAC	p.D263N	HNRNPH2_uc004ehn.2_Missense_Mutation_p.D263N	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	263	2 X 16 AA Gly-rich approximate repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						ATTTGGAAGAGACCTCAATTA	0.478												
RAB40AL	282808	broad.mit.edu	37	X	102192725	102192725	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:102192725A>T	uc004ejs.2	+	1	526	c.479A>T	c.(478-480)AAT>ATT	p.N160I		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	160					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			ovary(2)	2						CCTCTGTGCAATTTCAACATC	0.597												
NGFRAP1	27018	broad.mit.edu	37	X	102632690	102632690	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:102632690C>T	uc004eki.2	+	3	653	c.271C>T	c.(271-273)CGT>TGT	p.R91C	NGFRAP1_uc004ekh.2_Missense_Mutation_p.R81C|NGFRAP1_uc004ekj.1_Missense_Mutation_p.R91C	NM_206915	NP_996798	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16)	91	Interaction with 14-3-3 epsilon (By similarity).|Interaction with p75NTR/NGFR (By similarity).				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding				0						GAATTGTCTGCGTATCCTTAT	0.418												
COL4A5	1287	broad.mit.edu	37	X	107867547	107867547	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:107867547G>A	uc004enz.1	+	34	3201	c.2999G>A	c.(2998-3000)GGA>GAA	p.G1000E	COL4A5_uc011mso.1_Missense_Mutation_p.G1000E|COL4A5_uc004eob.1_Missense_Mutation_p.G608E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1000	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GGACAACCTGGATTACCAGGA	0.448									Alport_syndrome_with_Diffuse_Leiomyomatosis			
ZDHHC9	51114	broad.mit.edu	37	X	128975838	128975838	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:128975838G>A	uc004euv.2	-	2	453	c.84C>T	c.(82-84)CGC>CGT	p.R28R	ZDHHC9_uc004euw.2_Silent_p.R28R|ZDHHC9_uc004eux.1_Silent_p.R28R|ZDHHC9_uc004euy.1_Intron	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	28	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1						CCATCATGACGCGGCCATCAC	0.507												
VGLL1	51442	broad.mit.edu	37	X	135631047	135631047	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:135631047C>A	uc004ezy.2	+	3	684	c.514C>A	c.(514-516)CTC>ATC	p.L172I	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					CCTAAGTCTCCTCCAGCAAGA	0.597												
F9	2158	broad.mit.edu	37	X	138643010	138643010	+	Silent	SNP	C	C	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:138643010C>T	uc004fas.1	+	7	863	c.834C>T	c.(832-834)GTC>GTT	p.V278V	F9_uc004fat.1_Silent_p.V240V	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	278	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TTACAGTTGTCGCAGGTAAAT	0.353												
MAGEA5	4104	broad.mit.edu	37	X	151283727	151283727	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:151283727T>C	uc004ffj.2	-	3	491	c.286A>G	c.(286-288)AGC>GGC	p.S96G		NM_021049	NP_066387	P43359	MAGA5_HUMAN	melanoma antigen family A, 5	96	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGGTGCTTGGCCCCTCC	0.537												
FAM58A	92002	broad.mit.edu	37	X	152858040	152858040	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:152858040G>A	uc010nug.2	-	3	498	c.395C>T	c.(394-396)GCG>GTG	p.A132V				Q8N1B3	FA58A_HUMAN	RecName: Full=Cyclin-related protein FAM58B;	194					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTAGAGCACCGCCACGGCGAT	0.692												
HCFC1	3054	broad.mit.edu	37	X	153220523	153220523	+	Silent	SNP	G	G	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:153220523G>A	uc004fjp.2	-	17	3855	c.3327C>T	c.(3325-3327)TGC>TGT	p.C1109C		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1109	HCF repeat 3.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGGGTCTCGCAGGGTGGGT	0.572												
PCDH11Y	83259	broad.mit.edu	37	Y	4967202	4967202	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrY:4967202G>T	uc004fqo.2	+	2	2317	c.1583G>T	c.(1582-1584)GGG>GTG	p.G528V	PCDH11Y_uc010nwg.1_Missense_Mutation_p.G517V|PCDH11Y_uc004fql.1_Missense_Mutation_p.G517V|PCDH11Y_uc004fqm.1_Missense_Mutation_p.G517V|PCDH11Y_uc004fqn.1_Missense_Mutation_p.G528V|PCDH11Y_uc004fqp.1_Missense_Mutation_p.G299V	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	528	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						GCAGACAGTGGGCCTAATGCT	0.473												
ASPM	259266	broad.mit.edu	37	1	197091176	197091176	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:197091175_197091175TA>T	uc001gtu.3	-	16	3999	c.3742_splice	c.e16-1	p.V1248_splice	ASPM_uc001gtv.3_Splice_Site_p.V1248_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACC	0.303												
CRYGB	1419	broad.mit.edu	37	2	209010499	209010499	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:209010498_209010498CG>C	uc002vcp.4	-	2	285	c.252_splice	c.e2+1	p.P84_splice	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	84	Connecting peptide.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCACACTCACCGGGGGGATGA	0.498												
KDR	3791	broad.mit.edu	37	4	55948117	55948125	+	Splice_Site	DEL	TCTTACCCA	TCTTACCCA	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:55948116_55948124GTCTTACCCA>G	uc003has.3	-	29	4150	c.3848_splice	c.e29+1	p.G1283_splice	KDR_uc003hat.1_Splice_Site_p.G1283_splice	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1283					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|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	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)	ATATGGCTGAGTCTTACCCAAAAGATGGA	0.383			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)		
COL25A1	84570	broad.mit.edu	37	4	109753592	109753592	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:109753591_109753591TA>T	uc021xqo.1	-	31	1713	c.1657_splice	c.e31-1	p.G553_splice	COL25A1_uc003hze.1_Splice_Site_p.G553_splice|COL25A1_uc021xqp.1_Splice_Site_p.G553_splice|COL25A1_uc003hzg.3_Splice_Site_p.G553_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site_p.G350_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	553						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATCTGTACCCTAAAAAAAAGA	0.393												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
EEF1D	1936	broad.mit.edu	37	8	144663327	144663327	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	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												
KIN	22944	broad.mit.edu	37	10	7817765	7817765	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294												
IL28B	282617	broad.mit.edu	37	19	39734465	39734465	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:39734464_39734464CT>C	uc010xut.2	-	4	494	c.492_splice	c.e4+1	p.K164_splice	IL28B_uc010xuu.2_Splice_Site_p.K164_splice	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	164					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTCACTCACCTTTTTTGGGG	0.682												
DCDC1	341019	broad.mit.edu	37	11	31131854	31131855	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:31131854_31131855insT	uc001msu.1	-	12	1629_1630	c.396_397insA	c.(394-399)AAAGATfs	p.K132fs	uc009yjl.1_5'UTR			P59894	DCDC1_HUMAN	SubName: Full=Putative uncharacterized protein ENSP00000343496;	Error:Variant_position_missing_in_P59894_after_alignment					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					GATCCCAAATCTTTTTTACTGA	0.297												
SETBP1	26040	broad.mit.edu	37	18	42643610	42643610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:42643610delA	uc010dni.2	+	6	5034	c.4738delA	c.(4738-4740)AAAfs	p.K1580fs		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1580						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGAGGAGGTGAAAGCCAAAAG	0.667									Schinzel-Giedion_syndrome			
AMH	268	broad.mit.edu	37	19	2249534	2249534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:2249534delC	uc002lvh.2	+	1	422	c.203delC	c.(202-204)TCCfs	p.S68fs	hsa-mir-4321|MI0015852_5'Flank	NM_000479	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone precursor	68					cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGCAGCTCCCCCCTGCGG	0.692									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			
HSD11B1L	374875	broad.mit.edu	37	19	5687962	5687962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:5687962delG	uc002mck.2	+	8	954	c.704delG	c.(703-705)CGGfs	p.R235fs	HSD11B1L_uc002mcu.2_3'UTR|HSD11B1L_uc002mcl.2_Frame_Shift_Del_p.R154fs|HSD11B1L_uc002mcm.2_3'UTR|HSD11B1L_uc002mcq.2_Frame_Shift_Del_p.R101fs|HSD11B1L_uc002mcr.2_3'UTR|HSD11B1L_uc002mcs.2_3'UTR|HSD11B1L_uc010dug.2_3'UTR|HSD11B1L_uc002mct.2_3'UTR|HSD11B1L_uc002mco.2_3'UTR|HSD11B1L_uc002mcn.2_3'UTR|HSD11B1L_uc002mcp.2_3'UTR|RPL36_uc002mcv.2_5'Flank|RPL36_uc002mcw.2_5'Flank	NM_198533	NP_940935	Q7Z5J1	DHI1L_HUMAN	short-chain dehydrogenase/reductase 10 isoform	235						extracellular region	binding|oxidoreductase activity				0						CCTGAGCACCGGGGGGTGCCC	0.682												
JUNB	3726	broad.mit.edu	37	19	12902925	12902925	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:12902925delG	uc002mvc.2	+	1	616	c.340delG	c.(340-342)GGGfs	p.G114fs	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	114						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						TTACCCCCGCGGGGGTGGCAG	0.667												
C19orf51	352909	broad.mit.edu	37	19	55672519	55672519	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:55672519delC	uc002qji.1	-	8	860	c.826delG	c.(826-828)GACfs	p.D276fs	C19orf51_uc002qjh.1_Frame_Shift_Del_p.D91fs|C19orf51_uc002qjj.1_Frame_Shift_Del_p.D323fs|C19orf51_uc002qjk.1_Frame_Shift_Del_p.D222fs|C19orf51_uc002qjl.1_Frame_Shift_Del_p.D344fs			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	276											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTGGCGATGTCCCCCCAGTAC	0.657												
ESF1	51575	broad.mit.edu	37	20	13763492	13763492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:13763492delT	uc002woj.2	-	2	403	c.295delA	c.(295-297)ACCfs	p.T99fs	ESF1_uc002wok.1_Frame_Shift_Del_p.T99fs|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	ABT1-associated protein	99	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				ovary(1)	1						TTAGTCTGGGTTTTTTTCTTC	0.323												
IGF2BP3	10643	broad.mit.edu	37	7	23385595	23385596	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:23385595_23385596insT	uc003swg.2	-	8	1170_1171	c.904_905insA	c.(904-906)ATTfs	p.I302fs	IGF2BP3_uc003swf.2_5'UTR	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	302	KH 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2						GTCTTGCTCAATTTTTTTAAGA	0.351												
MCF2	4168	broad.mit.edu	37	X	138678778	138678779	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:138678778_138678779insA	uc004fau.2	-	19	2500_2501	c.2206_2207insT	c.(2206-2208)TGCfs	p.C736fs	MCF2_uc004fav.2_Frame_Shift_Ins_p.C752fs|MCF2_uc011mwl.1_Frame_Shift_Ins_p.C713fs|MCF2_uc010nsh.1_Frame_Shift_Ins_p.C736fs|MCF2_uc011mwm.1_Frame_Shift_Ins_p.C697fs|MCF2_uc011mwn.1_Frame_Shift_Ins_p.C881fs|MCF2_uc004faw.2_Frame_Shift_Ins_p.C796fs|MCF2_uc011mwo.1_Frame_Shift_Ins_p.C812fs	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	736	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					ACGCCTTTTGCAAAAAACAATG	0.391												
SLC2A5	6518	broad.mit.edu	37	1	9107765	9107766	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:9107764_9107765AAT>A	uc001apo.3	-	3	614_615	c.322_323ATT>T	c.(322-324)tttfs	p.F108fs	SLC2A5_uc010nzy.2_Frame_Shift_Del_p.F49fs|SLC2A5_uc010nzz.2_5'UTR|SLC2A5_uc010oaa.2_Frame_Shift_Del_p.F64fs|SLC2A5_uc010oac.2_Intron|SLC2A5_uc001app.4_Frame_Shift_Del_p.F108fs	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	108					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	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;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CACGATAGAAAATATGTTGTTG	0.401												
EPHA2	1969	broad.mit.edu	37	1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:16462198_16462198CG>C	uc001aya.2	-	5	1535	c.1380_1380CG>G	c.(1378-1380)ccgfs	p.P460fs	EPHA2_uc010oca.2_Frame_Shift_Del_p.P460fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	460	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.P460fs*33(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCTGCTGCGGCGGGGGGATGC	0.662												
ATP13A2	23400	broad.mit.edu	37	1	17322499	17322499	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:17322498_17322498GC>G	uc001baa.2	-	14	1705	c.1515_1515GC>C	c.(1513-1515)ggcfs	p.G505fs	ATP13A2_uc001bac.2_Frame_Shift_Del_p.G500fs|ATP13A2_uc001bab.2_Frame_Shift_Del_p.G500fs|ATP13A2_uc009vpa.1_Frame_Shift_Del_p.G181fs|ATP13A2_uc001bad.1_Frame_Shift_Del_p.G218fs	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	505					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCTGCAGCTTGCCCCCCAGGT	0.667												
TCEB3	6924	broad.mit.edu	37	1	24078202	24078203	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:24078201_24078202TAA>T	uc001bho.3	+	3	1244_1245	c.1184_1185TAA>T	c.(1183-1185)ctafs	p.L395fs		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	395					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TCTAACAACCTAAAGACTCCAG	0.460											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARID1A	8289	broad.mit.edu	37	1	27088659	27088659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:27088658_27088658AC>A	uc001bmv.1	+	6	2640	c.2267_2267AC>A	c.(2266-2268)aacfs	p.N756fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.N756fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.N756fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.N373fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	756					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		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)		ATGCAGAGGAACCCCCAGATG	0.512			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ARID1A	8289	broad.mit.edu	37	1	27106078	27106078	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:27106077_27106077GC>G	uc001bmv.1	+	19	6061	c.5688_5688GC>G	c.(5686-5688)gggfs	p.G1896fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1679fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G742fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G224fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G138fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1896					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		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)		ACCAGGAGGGGCCCCCACCTG	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
C1orf172	126695	broad.mit.edu	37	1	27278443	27278443	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:27278442_27278442TG>T	uc001bni.2	-	1	523	c.430_430CA>A	c.(430-432)agcfs	p.S144fs	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	144										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCCCGCCGGCTGGGGGGTGCA	0.632												
PHACTR4	65979	broad.mit.edu	37	1	28800273	28800273	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:28800272_28800272TC>T	uc001bpy.3	+	5	1295	c.1060_1060TC>T	c.(1060-1062)tccfs	p.S354fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Del_p.S344fs|PHACTR4_uc001bpx.3_Frame_Shift_Del_p.S328fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACT	0.512												
DLGAP3	58512	broad.mit.edu	37	1	35365852	35365852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:35365851_35365851AC>A	uc001byc.3	-	1	1131	c.1131_1131GT>T	c.(1129-1131)ggtfs	p.G377fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	377					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGGTGGGGTAACCCCCCCAGT	0.607												
INADL	10207	broad.mit.edu	37	1	62263064	62263066	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:62263063_62263065CTCA>C	uc001dab.3	+	10	1479_1481	c.1365_1367CTCA>C	c.(1363-1368)tcctca>tcCa	p.455_456SS>S	INADL_uc009waf.1_In_Frame_Del_p.455_456SS>S|INADL_uc001daa.2_In_Frame_Del_p.455_456SS>S|INADL_uc001dad.3_In_Frame_Del_p.152_153SS>S	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	455					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.S455P(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGAAGACATCCTCATCTACTTCT	0.443												
CELSR2	1952	broad.mit.edu	37	1	109793888	109793889	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:109793887_109793888G>GC	uc001dxa.4	+	0	1247_1248	c.1186_1187G>GC	c.(1186-1188)gccfs	p.A396fs		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	396	Cadherin 2.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAATGATAATGCCCCCCAGTTT	0.589												
PYGO2	90780	broad.mit.edu	37	1	154932028	154932029	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:154932027_154932028T>TG	uc001fft.3	-	2	654_655	c.448_449A>CA	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)			GCCAGGACCCTGGGGGGGCATG	0.619												
FDPS	2224	broad.mit.edu	37	1	155288502	155288503	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:155288501_155288502G>GCC	uc001fkc.2	+	6	949_950	c.730_731G>GCC	c.(730-732)gccfs	p.A244fs	FDPS_uc021paw.1_Frame_Shift_Ins_p.A178fs|FDPS_uc001fkd.2_Frame_Shift_Ins_p.A178fs|FDPS_uc021pax.1_Frame_Shift_Ins_p.A73fs|FDPS_uc001fke.2_Frame_Shift_Ins_p.A244fs|RUSC1-AS1_uc001fkh.1_Intron|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	244					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CCTCCTCACAGCCCCCCAGGGC	0.559												
NES	10763	broad.mit.edu	37	1	156642739	156642740	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:156642738_156642739CAG>C	uc001fpq.3	-	3	1374_1375	c.1241_1242CTG>G	c.(1240-1242)ctgfs	p.L414fs	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	414	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGTCTGGAGCAGAGAGAGAGG	0.649												
PIGC	5279	broad.mit.edu	37	1	172411516	172411516	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:172411515_172411515TG>T	uc021pey.1	-	0	248	c.248_248CA>A	c.(247-249)catfs	p.H83fs	PIGC_uc001gii.1_Intron|C1orf105_uc001gik.3_Intron|PIGC_uc001gin.3_Frame_Shift_Del_p.H83fs|PIGC_uc001gio.3_Frame_Shift_Del_p.H83fs	NM_153747	NP_714969	Q92535	PIGC_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class C (PIGC), transcript variant 1, mRNA.	83					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TAAAAGCCAATGGGGGGCCAG	0.502												
FAM129A	116496	broad.mit.edu	37	1	184764655	184764657	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr1:184764654_184764656CTCT>C	uc001gra.3	-	13	2436_2438	c.2242_2244AGAG>G	c.(2242-2244)gag>G	p.E749del	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	749	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCTCTTTTTCCTCTTCTTCTTCA	0.557												
ACP1	52	broad.mit.edu	37	2	277054	277054	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	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-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	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												
ASXL2	55252	broad.mit.edu	37	2	25966873	25966874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:25966872_25966873T>TG	uc002rgs.2	-	11	2554_2555	c.2333_2334A>CA	c.(2332-2334)ccafs	p.P778fs	ASXL2_uc002rgt.1_Frame_Shift_Ins_p.P518fs	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAGGCACTGGGGGGGTTTG	0.554												
FAM98A	25940	broad.mit.edu	37	2	33813525	33813526	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:33813524_33813525C>CT	uc002rpa.1	-	3	473_474	c.399_400G>AG	c.(397-402)aaagctfs	p.K133fs	FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Frame_Shift_Ins_p.K10fs	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	133										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTTCTTGAGCTTTTTTTGGAG	0.401												
ATP6V1B1	525	broad.mit.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	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)
TET3	200424	broad.mit.edu	37	2	74274174	74274174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:74274173_74274173AC>A	uc002skb.4	+	0	724	c.724_724AC>A	c.(724-726)accfs	p.T242fs	TET3_uc010fez.2_Frame_Shift_Del_p.T242fs	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	242							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCTCATTCCACCCCCCAGGC	0.597												
LOXL3	84695	broad.mit.edu	37	2	74763924	74763925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:74763923_74763924G>GC	uc002smp.1	-	4	896_897	c.824_825C>GC	c.(823-825)ggcfs	p.G275fs	LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Frame_Shift_Ins_p.G275fs|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	275	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.A277fs*57(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCACTGCAGGGCCCCCCCCAGG	0.649												
SLC9A2	6549	broad.mit.edu	37	2	103324746	103324746	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:103324745_103324745AC>A	uc002tca.3	+	11	2378	c.2236_2236AC>A	c.(2236-2238)accfs	p.T746fs		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	746						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TATGCCCAGCACCCCCCCAAC	0.527												
FIGN	55137	broad.mit.edu	37	2	164467489	164467489	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:164467488_164467488AG>A	uc002uck.1	-	2	1165	c.854_854CT>T	c.(853-855)ctafs	p.L285fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	285	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GGTGGGGGGTAGGGGGGTGGG	0.597												
DCAF17	80067	broad.mit.edu	37	2	172300086	172300086	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:172300085_172300085GA>G	uc002ugx.3	+	2	610	c.283_283GA>G	c.(283-285)gaafs	p.E95fs	DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Frame_Shift_Del_p.E95fs	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA.	95						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTCCAAATCAGAAAAAATAGA	0.318												
COL3A1	1281	broad.mit.edu	37	2	189855752	189855752	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:189855751_189855751GA>G	uc002uqj.1	+	10	937	c.820_820GA>G	c.(820-822)gaafs	p.E274fs	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	274	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACGAAATGGAGAAAAGGGTGA	0.284												
CRYGB	1419	broad.mit.edu	37	2	209010499	209010499	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:209010498_209010498CG>C	uc002vcp.4	-	2	285	c.252_splice	c.e2+1	p.P84_splice	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	84	Connecting peptide.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCACACTCACCGGGGGGATGA	0.498												
CCDC108	255101	broad.mit.edu	37	2	219892687	219892687	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:219892686_219892686TG>T	uc002vjl.1	-	12	1981	c.1897_1897CA>A	c.(1897-1899)atgfs	p.M633fs	CCDC108_uc010fwa.1_Frame_Shift_Del_p.M76fs|CCDC108_uc010zkp.1_Frame_Shift_Del_p.M622fs|CCDC108_uc010zkq.1_Frame_Shift_Del_p.M568fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	633						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACTCGGTCATGGGGGGGATA	0.597												
SCLY	51540	broad.mit.edu	37	2	238976762	238976762	+	Frame_Shift_Del	DEL	G	G	-	rs76625747	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:238976761_238976761AG>A	uc010fyv.3	+	2	389	c.258_258AG>A	c.(256-258)atafs	p.I86fs	SCLY_uc002vxm.4_Frame_Shift_Del_p.I53fs|SCLY_uc010znr.2_Intron|SCLY_uc010znq.2_Frame_Shift_Del_p.I86fs	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	86					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		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;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CGAAGATGATAGGGGGGAAAC	0.413												
NDUFA10	4705	broad.mit.edu	37	2	240954221	240954222	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr2:240954220_240954221T>TG	uc010fzc.2	-	5	825_826	c.724_725A>CA	c.(724-726)cacfs	p.H242fs	NDUFA10_uc002vyn.3_Frame_Shift_Ins_p.H202fs|NDUFA10_uc002vyo.2_Frame_Shift_Ins_p.H202fs	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535												
TTLL3	26140	broad.mit.edu	37	3	9839414	9839416	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:9839413_9839415TCTC>T	uc003btd.4	+	1	648_650	c.74_76TCTC>T	c.(73-78)ttctcc>tTcc	p.S27del	TTLL3_uc003btb.2_5'UTR|TTLL3_uc003bta.2_5'UTR|TTLL3_uc003bsz.2_In_Frame_Del_p.S27del|TTLL3_uc003btc.2_5'UTR|TTLL3_uc021wsu.1_In_Frame_Del_p.S46del	NM_001198793	NP_001185722	Q9Y4R7	TTLL3_HUMAN	Homo sapiens ARPC4-TTLL3 readthrough (ARPC4-TTLL3), mRNA.	0					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CTGGAGAACTTCTCCTCCCAGGT	0.571												
ACAA1	30	broad.mit.edu	37	3	38167143	38167143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:38167142_38167142AC>A	uc003cht.3	-	10	1320	c.1113_1113GT>T	c.(1111-1113)ggtfs	p.G371fs	ACAA1_uc003chu.3_Frame_Shift_Del_p.G278fs	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	371					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AGGCCACTGCACCCCCCAGGG	0.607												
NKTR	4820	broad.mit.edu	37	3	42679036	42679037	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:42679035_42679036T>TC	uc003clo.3	+	12	1986_1987	c.1839_1840T>TC	c.(1837-1842)agtcccfs	p.S613fs	NKTR_uc003clm.1_Frame_Shift_Ins_p.S360fs|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Frame_Shift_Ins_p.S360fs|NKTR_uc003clq.1_Frame_Shift_Ins_p.S503fs|NKTR_uc003clr.1_Frame_Shift_Ins_p.S360fs|NKTR_uc003cls.3_Frame_Shift_Ins_p.S313fs	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	613					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421												
RBM5	10181	broad.mit.edu	37	3	50150940	50150942	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:50150939_50150941GAGA>G	uc003cyg.3	+	17	1754_1756	c.1579_1581GAGA>G	c.(1579-1581)gag>G	p.E527del	RBM5_uc011bdj.2_In_Frame_Del_p.E471del|RBM5_uc011bdk.2_In_Frame_Del_p.E355del|RBM5_uc003cyh.3_5'UTR	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	527	Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAGGGGAAAGAGAAGAAGGAGA	0.502												
MAGI1	9223	broad.mit.edu	37	3	65425586	65425591	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-	rs139785185		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:65425585_65425590CTGCTGT>C	uc003dmn.3	-	8	1760_1765	c.1234_1239ACAGCAG>G	c.(1234-1239)cagcag>G	p.QQ420del	MAGI1_uc003dmm.3_In_Frame_Del_p.QQ420del|MAGI1_uc003dmo.3_In_Frame_Del_p.QQ420del|MAGI1_uc003dmp.3_In_Frame_Del_p.QQ420del|MAGI1_uc010hny.2_In_Frame_Del_p.QQ305del|MAGI1_uc021xac.1_In_Frame_Del_p.QQ421del	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	420	Poly-Gln.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgctgctgc	0.544											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCC	0.632												
GTF2E1	2960	broad.mit.edu	37	3	120489634	120489634	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:120489633_120489633CA>C	uc003edz.4	+	2	621	c.507_507CA>C	c.(505-507)cccfs	p.P169fs		NM_005513	NP_005504	P29083	T2EA_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1), mRNA.	169					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		CAGCAATGCCCAAAAAAGATG	0.418												
EAF2	55840	broad.mit.edu	37	3	121573659	121573659	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:121573658_121573658TA>T	uc003een.3	+	2	425	c.326_326TA>T	c.(325-327)gtafs	p.V109fs	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	109					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AACATCACTGTAAAAAAAACA	0.249												
KALRN	8997	broad.mit.edu	37	3	124438200	124438200	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr3:124438199_124438199TC>T	uc003ehg.3	+	59	8970	c.8843_8843TC>T	c.(8842-8844)atcfs	p.I2948fs	KALRN_uc003ehk.3_Frame_Shift_Del_p.I1251fs	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2947					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TACTCTAAGATCCCCCTGGAC	0.532												
ZNF141	7700	broad.mit.edu	37	4	367382	367382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:367381_367381TA>T	uc003gaa.2	+	3	1332	c.1155_1155TA>T	c.(1153-1155)catfs	p.H385fs	ZNF141_uc003gab.3_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	Homo sapiens zinc finger protein 141 (ZNF141), mRNA.	385					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TGAATGAACATAAAAAAATTC	0.413												
TACC3	10460	broad.mit.edu	37	4	1730308	1730308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:1730307_1730307AC>A	uc003gdo.3	+	3	1333	c.1178_1178AC>A	c.(1177-1179)gacfs	p.D393fs	TACC3_uc010ibz.3_Frame_Shift_Del_p.D393fs|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	393						centrosome		p.M396fs*17(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCAGGAGAGGACCCCCCCATG	0.612												
SH3TC1	54436	broad.mit.edu	37	4	8242564	8242566	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:8242563_8242565CTCT>C	uc003gkv.4	+	17	3993_3995	c.3892_3894CTCT>C	c.(3892-3894)ctc>C	p.L1298del	SH3TC1_uc003gkw.4_In_Frame_Del_p.L1222del|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	1298							binding	p.L1298L(2)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGAGAAGTCGCTCTTCTTCTACC	0.631												
KDR	3791	broad.mit.edu	37	4	55948117	55948125	+	Splice_Site	DEL	TCTTACCCA	TCTTACCCA	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:55948116_55948124GTCTTACCCA>G	uc003has.3	-	29	4150	c.3848_splice	c.e29+1	p.G1283_splice	KDR_uc003hat.1_Splice_Site_p.G1283_splice	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1283					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|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	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)	ATATGGCTGAGTCTTACCCAAAAGATGGA	0.383			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)		
EPHA5	2044	broad.mit.edu	37	4	66286255	66286256	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:66286254_66286255C>CT	uc003hcy.3	-	5	1624_1625	c.1431_1432G>AG	c.(1429-1434)aaagggfs	p.K477fs	EPHA5_uc003hcx.3_Frame_Shift_Ins_p.K408fs|EPHA5_uc003hcz.3_Frame_Shift_Ins_p.K477fs|EPHA5_uc011cah.2_Frame_Shift_Ins_p.K477fs|EPHA5_uc011cai.2_Frame_Shift_Ins_p.K477fs|EPHA5_uc003hda.2_Frame_Shift_Ins_p.K477fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	477	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.K476N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCAATTTTCCCTTTTTTCACAT	0.356										TSP Lung(17;0.13)		
TIGD2	166815	broad.mit.edu	37	4	90035667	90035667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:90035666_90035666GA>G	uc003hsk.3	+	0	1699	c.1541_1541GA>G	c.(1540-1542)agafs	p.R514fs		NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	514					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		ACCATAATAAGAAAAAAACAG	0.333												
PAPSS1	9061	broad.mit.edu	37	4	108578093	108578094	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr4:108578092_108578093CCT>C	uc003hyk.3	-	6	938_939	c.854_855AGG>G	c.(853-855)aggfs	p.R285fs	PAPSS1_uc011cfh.1_Non-coding_Transcript	NM_005443	NP_005434	O43252	PAPS1_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.	285					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GCAAGTACTCCCTCTCTCTCAT	0.376												
UGT3A2	167127	broad.mit.edu	37	5	36049012	36049012	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:36049011_36049011GT>G	uc003jjz.2	-	3	955	c.823_823AC>C	c.(823-825)cctfs	p.P275fs	UGT3A2_uc011cos.2_Frame_Shift_Del_p.P241fs|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	275						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGTTTAATAGGTTTTTCCATC	0.458												
PIK3R1	5295	broad.mit.edu	37	5	67592033	67592034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:67592032_67592033G>GC	uc003jva.3	+	14	2428_2429	c.1848_1849G>GC	c.(1846-1851)ttgcccfs	p.L616fs	PIK3R1_uc003jvc.3_Frame_Shift_Ins_p.L316fs|PIK3R1_uc003jvd.3_Frame_Shift_Ins_p.L346fs|PIK3R1_uc003jve.3_Frame_Shift_Ins_p.L295fs|PIK3R1_uc021xzn.1_Frame_Shift_Ins_p.L253fs	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	616					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ATGAAGATTTGCCCCATCATGA	0.480			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
BDP1	55814	broad.mit.edu	37	5	70785246	70785246	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:70785245_70785245TG>T	uc003kbp.1	+	9	1491	c.1228_1228TG>T	c.(1228-1230)tgtfs	p.C410fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.C410fs|BDP1_uc003kbo.3_Frame_Shift_Del_p.C410fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	410	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAAGTTGCCTGTGAAGGAGT	0.353												
PKD2L2	27039	broad.mit.edu	37	5	137260772	137260772	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:137260771_137260771CA>C	uc003lby.3	+	10	1650	c.1594_1594CA>C	c.(1594-1596)caafs	p.Q532fs	PKD2L2_uc003lbw.1_Frame_Shift_Del_p.Q532fs|PKD2L2_uc003lbx.3_Frame_Shift_Del_p.Q431fs|PKD2L2_uc011cyi.1_Frame_Shift_Del_p.Q140fs	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	532						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAAGAAAGCTCAAAAAGATGA	0.274												
CDC25C	995	broad.mit.edu	37	5	137627690	137627690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:137627689_137627689CT>C	uc003lcs.1	-	7	1166	c.966_966AG>G	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Del_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Del_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGAAAAATACTTTTTTTTAA	0.383												
PCDHAC2	56134	broad.mit.edu	37	5	140181371	140181371	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140181370_140181370GA>G	uc003lhf.2	+	0	588	c.588_588GA>G	c.(586-588)ttgfs	p.L196fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Frame_Shift_Del_p.L196fs	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	211	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			GACTCGTGTTGAAAAAAAATT	0.363												
PCDHB5	26167	broad.mit.edu	37	5	140515436	140515436	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140515435_140515435TA>T	uc003liq.3	+	0	636	c.419_419TA>T	c.(418-420)ctafs	p.L140fs		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	140	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAATGCTCCTAAAAATCCCA	0.448												
PCDHGC5	56097	broad.mit.edu	37	5	140810686	140810688	+	In_Frame_Del	DEL	AGT	AGT	-	rs147514897		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:140810685_140810687AAGT>A	uc003lkt.2	+	0	528_530	c.359_361AAGT>A	c.(358-363)gaagta>gAta	p.120_121EV>D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_In_Frame_Del_p.120_121EV>D	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	120	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGGAGTAGAAGTAGAAGTAAG	0.424												
PPARGC1B	133522	broad.mit.edu	37	5	149206386	149206386	+	Frame_Shift_Del	DEL	C	C	-	rs147140005		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:149206385_149206385AC>A	uc003lrc.3	+	2	493	c.402_402AC>A	c.(400-402)gcafs	p.A134fs	PPARGC1B_uc003lrb.2_Frame_Shift_Del_p.A134fs|PPARGC1B_uc003lrd.3_Frame_Shift_Del_p.A134fs|PPARGC1B_uc021yfr.1_Frame_Shift_Del_p.A109fs|PPARGC1B_uc003lre.1_Frame_Shift_Del_p.A113fs|PPARGC1B_uc003lrf.3_Frame_Shift_Del_p.A113fs	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	134					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCTCATCTGCACCCCCCAGCC	0.617												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
JARID2	3720	broad.mit.edu	37	6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	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												
RIMS1	22999	broad.mit.edu	37	6	72892075	72892075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:72892074_72892074CG>C	uc003pga.3	+	5	977	c.900_900CG>C	c.(898-900)cccfs	p.P300fs	RIMS1_uc011dyb.2_5'UTR|RIMS1_uc003pgc.3_5'UTR|RIMS1_uc003pgb.4_5'UTR	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	300					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	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGCGCAGCCCGTGGAGGGGG	0.572												
KIAA1009	22832	broad.mit.edu	37	6	84896233	84896234	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:84896232_84896233C>CA	uc010kbp.3	-	11	1315_1316	c.1218_1219G>TG	c.(1216-1221)tttgacfs	p.F406fs	KIAA1009_uc003pkj.4_Frame_Shift_Ins_p.F330fs|KIAA1009_uc003pkk.2_Frame_Shift_Ins_p.F406fs|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	406					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCATTTTTGTCAAAAAAAAGGT	0.356												
ARHGAP18	93663	broad.mit.edu	37	6	129901238	129901239	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:129901237_129901238C>CA	uc003qbr.3	-	13	1966_1967	c.1877_1878G>TG	c.(1876-1878)ttgfs	p.L626fs	ARHGAP18_uc011ebw.2_Frame_Shift_Ins_p.F584fs	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	626					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CAATTTCATACAAAAAAACTTC	0.342												
SYNE1	23345	broad.mit.edu	37	6	152615205	152615206	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr6:152615204_152615205A>AT	uc021zhb.1	-	91	17963_17964	c.17740_17741T>AT	c.(17740-17742)attfs	p.I5914fs	SYNE1_uc003qos.4_Frame_Shift_Ins_p.I438fs|SYNE1_uc003qot.4_Frame_Shift_Ins_p.I5843fs|SYNE1_uc003qou.4_Frame_Shift_Ins_p.I5914fs|SYNE1_uc010kiy.1_Frame_Shift_Ins_p.I89fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5914					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTGGGGTGAATTTTTGCAGCA	0.465										HNSCC(10;0.0054)		
IGF2BP3	10643	broad.mit.edu	37	7	23385596	23385597	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:23385595_23385596A>AT	uc003swg.3	-	7	1170_1171	c.904_905T>AT	c.(904-906)attfs	p.I302fs	IGF2BP3_uc003swf.3_5'UTR	NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	302	KH 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTCTTGCTCAATTTTTTTAAGA	0.351												
HOXA10	3206	broad.mit.edu	37	7	27213837	27213837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:27213836_27213836CA>C	uc011jzm.2	-	0	120	c.90_90TG>G	c.(88-90)ttgfs	p.L30fs	HOXA9_uc022aar.1_Intron|HOXA10_uc003syw.4_Intron	NM_018951	NP_061824	P31260	HXA10_HUMAN	Homo sapiens homeobox A10 (HOXA10), transcript variant 1, mRNA.	30					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						GCGAGTCGACCAAAAAAGAGT	0.632												
BAIAP2L1	55971	broad.mit.edu	37	7	97939854	97939854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:97939853_97939853CG>C	uc003upj.3	-	8	1122	c.859_859CG>G	c.(859-861)gctfs	p.A287fs		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	287					filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	SH3 domain binding|actin binding|cytoskeletal adaptor activity|proline-rich region binding	p.A287S(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CCTGAAGGAGCGGGGGGCATC	0.428												
CUX1	1523	broad.mit.edu	37	7	101839974	101839974	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:101839973_101839973GC>G	uc003uys.4	+	14	1442	c.1315_1315GC>G	c.(1315-1317)gccfs	p.A439fs	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.A428fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	428					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G439V(1)		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						ATCTTTGCCGGCCCCCCCTCC	0.562												
BCAP29	55973	broad.mit.edu	37	7	107258914	107258914	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:107258913_107258913AT>A	uc011kma.1	+	7	924	c.910_910AT>A	c.(910-912)attfs	p.I304fs	BCAP29_uc003vej.2_3'UTR|BCAP29_uc011kly.1_3'UTR	NM_001008405	NP_001008405	Q9UHQ4	BAP29_HUMAN	Homo sapiens B-cell receptor-associated protein 29 (BCAP29), transcript variant 1, mRNA.	0					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CCGGTTCGTAATTTTTTTAAT	0.294												
XRCC2	7516	broad.mit.edu	37	7	152345760	152345761	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:152345759_152345760T>TA	uc003wld.3	-	2	896_897	c.810_811A>TA	c.(808-813)tttattfs	p.F270fs		NM_005431	NP_005422	O43543	XRCC2_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2), mRNA.	270					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TCTCCAATAATAAAAAAATGTT	0.302								Homologous recombination				
WDR60	55112	broad.mit.edu	37	7	158734830	158734830	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr7:158734829_158734829TC>T	uc003woe.4	+	23	3150	c.2992_2992TC>T	c.(2992-2994)tccfs	p.S998fs	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Frame_Shift_Del_p.S630fs	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	998										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACAGCAGGTCTCCCCCAACAG	0.577												
PSD3	23362	broad.mit.edu	37	8	18393262	18393262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:18393261_18393261CT>C	uc003wza.3	-	15	3239	c.3136_3136AG>G	c.(3136-3138)gttfs	p.V1046fs	PSD3_uc003wyx.4_Frame_Shift_Del_p.V375fs|PSD3_uc003wyy.3_Frame_Shift_Del_p.V512fs|PSD3_uc003wyz.3_Frame_Shift_Del_p.V347fs	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	1047					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTCTAAGTAACTTTTTGCTTA	0.423												
FER1L6	654463	broad.mit.edu	37	8	125033884	125033884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:125033883_125033883GA>G	uc003yqw.3	+	16	2313	c.2107_2107GA>G	c.(2107-2109)gaafs	p.E703fs	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	703						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAACTTTGTGGAAAAAATCCG	0.418												
MTSS1	9788	broad.mit.edu	37	8	125565271	125565273	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:125565270_125565272GTCT>G	uc003yrl.2	-	14	2775_2777	c.2241_2243AGAC>C	c.(2239-2244)aagacc>aaCc	p.747_748KT>N	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_In_Frame_Del_p.392_393KT>N|MTSS1_uc011lin.1_In_Frame_Del_p.517_518KT>N|MTSS1_uc011lio.1_In_Frame_Del_p.633_634KT>N|MTSS1_uc003yri.2_In_Frame_Del_p.461_462KT>N|MTSS1_uc003yrj.2_In_Frame_Del_p.718_719KT>N|MTSS1_uc003yrk.2_In_Frame_Del_p.743_744KT>N	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	743					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTTGTCGTGGTCTTCTTCAGTT	0.498												
PHF20L1	51105	broad.mit.edu	37	8	133823330	133823330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr8:133823329_133823329GA>G	uc003ytt.3	+	8	1211	c.886_886GA>G	c.(886-888)gaafs	p.E296fs	PHF20L1_uc003ytr.3_Frame_Shift_Del_p.E270fs|PHF20L1_uc010mdv.3_Frame_Shift_Del_p.E270fs|PHF20L1_uc003yts.3_Frame_Shift_Del_p.E296fs|PHF20L1_uc011lja.2_Frame_Shift_Del_p.E270fs|PHF20L1_uc003ytu.1_Non-coding_Transcript|PHF20L1_uc003ytv.3_Frame_Shift_Del_p.E135fs	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	296							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGATGGTGCTGAAAAAAAGGA	0.378												
EEF1D	1936	broad.mit.edu	37	8	144663327	144663327	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	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												
SLC24A2	25769	broad.mit.edu	37	9	19786766	19786767	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:19786765_19786766G>GT	uc003zoa.2	-	0	252_253	c.99_100C>AC	c.(97-102)aaactgfs	p.K33fs	SLC24A2_uc003zob.2_Frame_Shift_Ins_p.K33fs	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	33					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATTAACTTCAGTTTTTTCTTGA	0.436												
TESK1	7016	broad.mit.edu	37	9	35606843	35606843	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:35606842_35606842TG>T	uc003zxa.3	+	3	735	c.399_399TG>T	c.(397-399)aatfs	p.N133fs	TESK1_uc010mks.3_Frame_Shift_Del_p.M1fs|MIR4667_uc022bgk.1_5'Flank	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	133	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			aGTATATGAATGGGGGGACAT	0.582												
PRKACG	5568	broad.mit.edu	37	9	71628985	71628987	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:71628984_71628986CCTT>C	uc004agy.3	-	0	54_56	c.23_25AAGG>G	c.(22-27)aaggac>aGac	p.8_9KD>R		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	8					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCTCGGTGTCCTTCTTGGCGGG	0.704												
ZCCHC6	79670	broad.mit.edu	37	9	88937823	88937823	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:88937822_88937822TA>T	uc004aou.3	-	12	2981	c.2843_2843TA>A	c.(2842-2844)tatfs	p.Y948fs	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Frame_Shift_Del_p.Y948fs|ZCCHC6_uc004aot.3_Frame_Shift_Del_p.Y825fs|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	948					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ACTGAATTCATAAAAAAAATC	0.333												
ZNF169	169841	broad.mit.edu	37	9	97062695	97062695	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:97062694_97062694CG>C	uc022bki.1	+	3	912	c.857_857CG>C	c.(856-858)tcgfs	p.S286fs	ZNF169_uc004aum.1_Frame_Shift_Del_p.S285fs	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	285						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGGAAGCACTCGGGGGAGAAG	0.567												
CACNA1B	774	broad.mit.edu	37	9	141016157	141016157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr9:141016156_141016156AC>A	uc004cog.3	+	45	6864	c.6719_6719AC>A	c.(6718-6720)gacfs	p.D2240fs	CACNA1B_uc022bqn.1_Frame_Shift_Del_p.T2178fs|CACNA1B_uc004coi.3_Frame_Shift_Del_p.D1454fs	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2242					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGCAGAGAGACCCCCTCAGC	0.672												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAG	0.353												
KIN	22944	broad.mit.edu	37	10	7817765	7817765	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:7817764_7817764TA>T	uc001ijt.3	-	6	653	c.559_splice	c.e6-1	p.E187_splice	KIN_uc010qaz.2_Splice_Site|KIN_uc010qba.2_Splice_Site_p.E81_splice	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	187					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGA	0.318												
RPP38	10557	broad.mit.edu	37	10	15146145	15146146	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:15146144_15146145T>TA	uc001iny.4	+	2	1544_1545	c.831_832T>TA	c.(829-834)agtaaafs	p.S277fs	RPP38_uc009xjm.3_Frame_Shift_Ins_p.S277fs|RPP38_uc001inx.4_Frame_Shift_Ins_p.S277fs|RPP38_uc021pnk.1_Frame_Shift_Ins_p.S277fs	NM_183005	NP_892117	P78345	RPP38_HUMAN	Homo sapiens ribonuclease P/MRP 38kDa subunit (RPP38), transcript variant 1, mRNA.	277					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CACCCAAAAGTAAAAAAGCTAC	0.361												
MBL2	4153	broad.mit.edu	37	10	54530516	54530517	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:54530515_54530516A>AG	uc001jjt.3	-	1	283_284	c.218_219T>CT	c.(217-219)cctfs	p.P73fs		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	73	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	p.P72P(1)		breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCAACTTTCCAGGGGGGCCCTG	0.530												
PRF1	5551	broad.mit.edu	37	10	72358189	72358189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:72358188_72358188TC>T	uc009xqg.3	-	2	1450	c.1289_1289GA>A	c.(1288-1290)gacfs	p.D430fs	PRF1_uc001jrf.4_Frame_Shift_Del_p.D430fs	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	430	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGTGAACCAGTCCCCCCACAG	0.622			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis			
PLAU	5328	broad.mit.edu	37	10	75673438	75673439	+	Frame_Shift_Ins	INS	-	-	G	rs145070893	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:75673437_75673438C>CG	uc001jwa.3	+	6	747_748	c.601_602C>CG	c.(601-603)cggfs	p.R201fs	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Frame_Shift_Ins_p.R184fs|PLAU_uc010qkx.2_Frame_Shift_Ins_p.R115fs|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Frame_Shift_Ins_p.R201fs|PLAU_uc009xrq.1_Frame_Shift_Ins_p.R165fs	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	201	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CAGGAGGCACCGGGGGGGCTCT	0.589												
DUSP13	51207	broad.mit.edu	37	10	76868884	76868884	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:76868883_76868883TC>T	uc001jww.3	-	0	88	c.33_33GA>A	c.(31-33)ggafs	p.G11fs	SAMD8_uc001jwx.2_5'Flank|SAMD8_uc001jwy.2_5'Flank|DUSP13_uc001jws.3_Frame_Shift_Del_p.G11fs|DUSP13_uc001jwu.3_5'UTR|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_5'UTR	NM_001007272	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 2, mRNA.	11						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTTTGTCCTCTCCCCCCAGCT	0.632												
SH2D4B	387694	broad.mit.edu	37	10	82369293	82369293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:82369292_82369292GC>G	uc001kck.1	+	5	1400	c.970_970GC>G	c.(970-972)gccfs	p.A324fs	SH2D4B_uc001kcl.1_Frame_Shift_Del_p.A276fs|SH2D4B_uc001kcm.1_Frame_Shift_Del_p.A71fs	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	323										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CAAGTTCATCGCCCCCTGGTT	0.597												
LRIT1	26103	broad.mit.edu	37	10	85997404	85997404	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:85997403_85997403CG>C	uc001kcz.1	-	1	184	c.162_162CG>G	c.(160-162)ccgfs	p.P54fs		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	54	LRRNT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGATGGACGCCGGGGGCAGGG	0.672												
MINPP1	9562	broad.mit.edu	37	10	89268174	89268174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:89268173_89268173GA>G	uc001keu.3	+	1	1168	c.718_718GA>G	c.(718-720)gaafs	p.E240fs	MINPP1_uc001kev.3_Frame_Shift_Del_p.E240fs|MINPP1_uc009xtf.2_Non-coding_Transcript|MINPP1_uc021pvv.1_Frame_Shift_Del_p.E39fs	NM_004897	NP_004888	Q9UNW1	MINP1_HUMAN	Homo sapiens multiple inositol-polyphosphate phosphatase 1 (MINPP1), transcript variant 1, mRNA.	240					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		AACTGAAGTAGAAAAAAATGC	0.338												
TCF7L2	6934	broad.mit.edu	37	10	114925402	114925402	+	Frame_Shift_Del	DEL	C	C	-	rs61724286		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:114925401_114925401TC>T	uc021pyi.1	+	14	2037	c.1530_1530TC>T	c.(1528-1530)cctfs	p.P510fs	TCF7L2_uc001lah.3_3'UTR|TCF7L2_uc010qro.2_3'UTR|TCF7L2_uc001lae.4_Frame_Shift_Del_p.P493fs|TCF7L2_uc010qrm.2_3'UTR|TCF7L2_uc010qrn.2_3'UTR|TCF7L2_uc021pyg.1_Frame_Shift_Del_p.P226fs|TCF7L2_uc021pyh.1_3'UTR|TCF7L2_uc021pyj.1_3'UTR|TCF7L2_uc021pyk.1_Frame_Shift_Del_p.P475fs|TCF7L2_uc021pyl.1_3'UTR|TCF7L2_uc010qrp.2_3'UTR|TCF7L2_uc021pym.1_3'UTR|TCF7L2_uc021pyn.1_Frame_Shift_Del_p.P498fs|TCF7L2_uc021pyo.1_3'UTR|TCF7L2_uc021pyp.1_3'UTR|TCF7L2_uc010qrq.2_3'UTR|TCF7L2_uc001lac.4_Frame_Shift_Del_p.P487fs|TCF7L2_uc010qrk.2_3'UTR|TCF7L2_uc001lad.4_3'UTR|TCF7L2_uc001lag.4_3'UTR|TCF7L2_uc001laf.4_Frame_Shift_Del_p.P470fs|TCF7L2_uc010qrl.2_Frame_Shift_Del_p.P470fs|TCF7L2_uc010qrr.2_Frame_Shift_Del_p.P425fs|TCF7L2_uc010qrs.2_Frame_Shift_Del_p.P381fs|TCF7L2_uc010qrt.2_Frame_Shift_Del_p.P381fs|TCF7L2_uc010qru.2_3'UTR|TCF7L2_uc010qrv.2_3'UTR|TCF7L2_uc010qrw.2_3'UTR|TCF7L2_uc010qrx.2_3'UTR	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	510					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	PML body|beta-catenin-TCF7L2 complex|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		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TAGATTCGCCTCCCCCCTCCC	0.592			T	VTI1A	colorectal							
VAX1	11023	broad.mit.edu	37	10	118896160	118896161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr10:118896159_118896160A>AC	uc009xyx.3	-	1	497_498	c.252_253T>GT	c.(250-255)gggtccfs	p.G84fs	VAX1_uc001ldb.1_Frame_Shift_Ins_p.G84fs	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	Homo sapiens ventral anterior homeobox 1 (VAX1), transcript variant 1, mRNA.	84						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCTCGGATGGACCCCTTGGCAT	0.639												
GTF2H1	2965	broad.mit.edu	37	11	18373881	18373883	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:18373880_18373882TATC>T	uc001moi.2	+	11	1841_1843	c.1147_1149TATC>T	c.(1147-1149)tat>T	p.Y383del	GTF2H1_uc001moh.2_In_Frame_Del_p.Y383del|GTF2H1_uc009yhm.2_In_Frame_Del_p.Y267del	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	383					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTGCAGGTATTATCATGGTCCAA	0.369								Nucleotide excision repair (NER)				
PRMT3	10196	broad.mit.edu	37	11	20515777	20515777	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:20515776_20515776GA>G	uc001mqb.3	+	14	1679	c.1462_1462GA>G	c.(1462-1464)gaafs	p.E488fs	PRMT3_uc001mqc.3_Frame_Shift_Del_p.E411fs|PRMT3_uc010rdn.2_Frame_Shift_Del_p.E426fs	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	488							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ATTTCTACTGGAAAAACCATT	0.373												
EIF3M	10480	broad.mit.edu	37	11	32611130	32611130	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:32611129_32611129GA>G	uc001mtu.3	+	4	518	c.475_475GA>G	c.(475-477)gaafs	p.E159fs	EIF3M_uc010ref.2_Frame_Shift_Del_p.E27fs	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit M (EIF3M), mRNA.	159						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TCTCACCACTGAAAAAAAGCA	0.328												
RAG2	5897	broad.mit.edu	37	11	36614195	36614195	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:36614194_36614194CT>C	uc021qge.1	-	0	1525	c.1525_1525AG>G	c.(1525-1527)ggtfs	p.G509fs	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Frame_Shift_Del_p.G509fs|RAG2_uc021qgd.1_Frame_Shift_Del_p.G509fs|RAG2_uc001mwv.4_Frame_Shift_Del_p.G509fs|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.	509					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			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)				TTTCCAGAACCTTTTTTACGG	0.398									Familial Hemophagocytic Lymphohistiocytosis			
PEX16	9409	broad.mit.edu	37	11	45935924	45935924	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:45935923_45935923AG>A	uc001nbt.3	-	6	950	c.638_638CT>T	c.(637-639)ctgfs	p.L213fs	PEX16_uc001nbu.3_Frame_Shift_Del_p.L213fs	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.	213					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTGCAGCCCCAGGGGGGTGGG	0.672												
CTNND1	1500	broad.mit.edu	37	11	57569589	57569589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:57569588_57569588TA>T	uc001nmc.4	+	6	1911	c.1340_1340TA>T	c.(1339-1341)atafs	p.I447fs	CTNND1_uc001nlf.2_Frame_Shift_Del_p.I447fs|CTNND1_uc021qjk.1_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlh.1_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlj.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlq.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlr.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nln.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nli.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlo.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlp.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlu.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlt.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlv.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nls.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nlw.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nmf.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nlx.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nlz.4_Frame_Shift_Del_p.I124fs|CTNND1_uc009ymn.3_Frame_Shift_Del_p.I124fs|CTNND1_uc001nly.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nmb.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nma.4_Frame_Shift_Del_p.I124fs|CTNND1_uc001nmd.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlk.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nme.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nll.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nlm.4_Frame_Shift_Del_p.I447fs|CTNND1_uc001nmi.4_Frame_Shift_Del_p.I346fs|CTNND1_uc001nmg.4_Frame_Shift_Del_p.I393fs|CTNND1_uc001nmh.4_Frame_Shift_Del_p.I447fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	447					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGATTGCCATAAAAAACTGT	0.468												
FAM111B	374393	broad.mit.edu	37	11	58892722	58892725	+	Frame_Shift_Del	DEL	AATT	AATT	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:58892721_58892724CAATT>C	uc001nnl.3	+	3	1394_1397	c.1151_1154CAATT>C	c.(1150-1155)gcaattfs	p.A384fs	FAM111B_uc001nnm.3_Frame_Shift_Del_p.A354fs|FAM111B_uc010rko.2_Frame_Shift_Del_p.A354fs|FAM111B_uc021qjn.1_Frame_Shift_Del_p.A354fs	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	384							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CAAAAGGAGGCAATTAATCTCTTA	0.397												
MARK2	2011	broad.mit.edu	37	11	63667438	63667440	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:63667437_63667439CCTT>C	uc001nxw.3	+	7	1202_1204	c.623_625CCTT>C	c.(622-627)accttc>aCtc	p.F209del	MARK2_uc001nxv.4_In_Frame_Del_p.F209del|MARK2_uc001nxx.3_In_Frame_Del_p.F209del|MARK2_uc001nxy.3_In_Frame_Del_p.F209del|MARK2_uc001nxz.4_In_Frame_Del_p.F176del|MARK2_uc009yoy.3_In_Frame_Del_p.F176del	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	209	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGCTGGACACCTTCTGTGGCAG	0.493												
BRMS1	25855	broad.mit.edu	37	11	66108714	66108714	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:66108713_66108713GC>G	uc001oho.1	-	3	469	c.322_322GC>C	c.(322-324)ctgfs	p.L108fs	BRMS1_uc001ohp.1_Frame_Shift_Del_p.L108fs|BRMS1_uc009yre.3_5'Flank	NM_001024957	NP_001020128	Q9HCU9	BRMS1_HUMAN	Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA.	108					apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTCCGCTGCAGCCCCCCAAGG	0.627												
TAF1D	79101	broad.mit.edu	37	11	93470382	93470382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:93470381_93470381TA>T	uc001ped.3	-	3	727	c.484_484TA>A	c.(484-486)aacfs	p.N162fs	TAF1D_uc001pec.3_5'Flank|TAF1D_uc001pdz.3_Non-coding_Transcript|SNORA40_uc009ywh.3_5'Flank	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa (TAF1D), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TCAATATAGTTAAAAAATCCT	0.333												
DDX10	1662	broad.mit.edu	37	11	108712180	108712180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:108712179_108712179GA>G	uc001pkm.3	+	14	2288	c.2223_2223GA>G	c.(2221-2223)aggfs	p.R741fs	DDX10_uc001pkl.1_Frame_Shift_Del_p.R741fs	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	741							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGAATATAGGAAAAAAATTA	0.348			T	NUP98	AML*							
DSCAML1	57453	broad.mit.edu	37	11	117391911	117391911	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:117391910_117391910GC>G	uc001prh.1	-	5	1330	c.1328_1328GC>C	c.(1327-1329)gccfs	p.A443fs	DSCAML1_uc001pri.1_Frame_Shift_Del_p.A247fs	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	383	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCACTGGTAGGCCCCGGAATG	0.657												
CCDC153	283152	broad.mit.edu	37	11	119061043	119061043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:119061042_119061042AG>A	uc010rze.2	-	6	814	c.600_600CT>T	c.(598-600)cctfs	p.P200fs		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGA	0.572												
SPA17	53340	broad.mit.edu	37	11	124545214	124545216	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr11:124545213_124545215ATCT>A	uc001qap.3	+	1	189_191	c.53_55ATCT>A	c.(52-57)aatctt>aAtt	p.L20del	SIAE_uc001qan.3_5'Flank|SIAE_uc021qru.1_5'UTR|SIAE_uc001qao.2_5'Flank	NM_017425	NP_059121	Q15506	SP17_HUMAN	Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA.	20					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GGATTTGGGAATCTTCTTGAAGG	0.438												
M6PR	4074	broad.mit.edu	37	12	9095102	9095102	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:9095101_9095101AC>A	uc001qvf.3	-	5	897	c.622_622GT>T	c.(622-624)ttcfs	p.F208fs	M6PR_uc021quk.1_Intron	NM_002355	NP_002346	P20645	MPRD_HUMAN	Homo sapiens mannose-6-phosphate receptor (cation dependent) (M6PR), transcript variant 1, mRNA.	208					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			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		TGGTATAGGAACCCCCCAACA	0.453												
PLCZ1	89869	broad.mit.edu	37	12	18854469	18854469	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:18854468_18854468CT>C	uc021qvx.1	-	8	1175	c.984_984AG>G	c.(982-984)aagfs	p.K328fs	PLCZ1_uc001rdv.4_Frame_Shift_Del_p.K224fs|PLCZ1_uc001rdw.4_Frame_Shift_Del_p.K69fs|PLCZ1_uc001rdu.1_Frame_Shift_Del_p.K110fs|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	328					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTCCAGGTAACTTTTTTACCC	0.368												
PUS7L	83448	broad.mit.edu	37	12	44148392	44148392	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:44148391_44148391TA>T	uc001rns.4	-	1	738	c.658_658TA>A	c.(658-660)aaafs	p.K220fs	PUS7L_uc001rnq.4_Frame_Shift_Del_p.K220fs|PUS7L_uc001rnr.4_Frame_Shift_Del_p.K220fs|PUS7L_uc009zkb.3_Intron	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	220					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCCAAATATTTAAAAAAGTCA	0.299												
KRT73	319101	broad.mit.edu	37	12	53012151	53012151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:53012150_53012150AC>A	uc001sas.3	-	0	194	c.159_159GT>T	c.(157-159)ggtfs	p.G53fs		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	53	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTCCGGGCACCCCCCAGGC	0.642												
NAB2	4665	broad.mit.edu	37	12	57485491	57485491	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:57485490_57485490TG>T	uc001smz.3	+	1	1044	c.666_666TG>T	c.(664-666)gctfs	p.A222fs		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	222					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGACTGGGGCTGGGGGGCTGG	0.672												
TMEM19	55266	broad.mit.edu	37	12	72094768	72094768	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:72094767_72094767AG>A	uc001sws.3	+	5	1586	c.1003_1003AG>A	c.(1003-1005)aggfs	p.R335fs		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	335						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TTTTTGGCCCAGGGGGTGAAC	0.418												
NEDD1	121441	broad.mit.edu	37	12	97337434	97337434	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:97337433_97337433GT>G	uc001tew.3	+	10	1557	c.1411_1411GT>G	c.(1411-1413)gttfs	p.V471fs	NEDD1_uc001teu.4_Frame_Shift_Del_p.V464fs|NEDD1_uc001tev.4_Frame_Shift_Del_p.V464fs|NEDD1_uc010svc.2_Frame_Shift_Del_p.V375fs|NEDD1_uc001tex.3_Frame_Shift_Del_p.V375fs	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	464					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TCCTCTTAATGTTTTTATGGG	0.378												
TAOK3	51347	broad.mit.edu	37	12	118639157	118639158	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:118639156_118639157A>AT	uc001twx.3	-	11	1226_1227	c.931_932T>AT	c.(931-933)atafs	p.I311fs	TAOK3_uc001tww.3_Frame_Shift_Ins_p.I141fs|TAOK3_uc001twy.4_Frame_Shift_Ins_p.I311fs	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	311					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGAAAAGTATTTTTTTCATT	0.431												
CAMKK2	10645	broad.mit.edu	37	12	121678620	121678620	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:121678619_121678619TC>T	uc001tzv.3	-	16	2479	c.1650_1650GA>A	c.(1648-1650)ggafs	p.G550fs	CAMKK2_uc001tzt.3_Frame_Shift_Del_p.E536fs|CAMKK2_uc001tzu.3_Frame_Shift_Del_p.G550fs|CAMKK2_uc001tzw.3_Frame_Shift_Del_p.G507fs|CAMKK2_uc001tzx.3_Frame_Shift_Del_p.E536fs|CAMKK2_uc001tzy.3_Frame_Shift_Del_p.E493fs|CAMKK2_uc001tzz.1_Intron|CAMKK2_uc001uaa.1_Intron	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	550					MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACTTCCTCCTCCCCCACGGG	0.642												
BCL7A	605	broad.mit.edu	37	12	122492892	122492892	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr12:122492891_122492891CG>C	uc001ubo.3	+	4	757	c.620_620CG>C	c.(619-621)tcgfs	p.S207fs	BCL7A_uc001ubp.3_Intron	NM_020993	NP_066273	Q4VC05	BCL7A_HUMAN	Homo sapiens B-cell CLL/lymphoma 7A (BCL7A), transcript variant 1, mRNA.	187					negative regulation of transcription, DNA-dependent			p.S207L(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		ATTGGGTTGTCGGGGGTACGT	0.542			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DCLK1	9201	broad.mit.edu	37	13	36686033	36686033	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:36686032_36686032GT>G	uc001uvf.3	-	2	980	c.697_697AC>C	c.(697-699)cgcfs	p.R233fs		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	233	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			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)		GTGTACAGGCGTTTCACCACT	0.498												
KBTBD6	89890	broad.mit.edu	37	13	41705322	41705323	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:41705321_41705322G>GC	uc001uxu.1	-	0	1615_1616	c.1326_1327C>GC	c.(1324-1329)gggcgafs	p.G442fs	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	442							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470												
AKAP11	11215	broad.mit.edu	37	13	42874486	42874486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:42874485_42874485CA>C	uc001uys.2	+	7	1778	c.1603_1603CA>C	c.(1603-1605)caafs	p.Q535fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	535					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAACCTTGATCAAAAAAATAA	0.289												
RBM26	64062	broad.mit.edu	37	13	79940860	79940861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:79940859_79940860T>TG	uc001vkz.2	-	6	1057_1058	c.1043_1044A>CA	c.(1042-1044)ccafs	p.P348fs	RBM26_uc001vky.2_Frame_Shift_Ins_p.P348fs|RBM26_uc001vla.2_Frame_Shift_Ins_p.P348fs|RBM26_uc001vkx.2_Frame_Shift_Ins_p.P60fs|RBM26_uc001vlb.1_Non-coding_Transcript	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	348	Pro-rich.				mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTGGTGGAGGTGGGGGGAGTCC	0.545												
COL4A1	1282	broad.mit.edu	37	13	110838821	110838822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr13:110838820_110838821A>AG	uc001vqw.4	-	25	1930_1931	c.1808_1809T>CT	c.(1807-1809)cctfs	p.P603fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	603	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGAGGCCCAGGGGGGCCGGT	0.599												
EFS	10278	broad.mit.edu	37	14	23829042	23829042	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:23829041_23829041TG>T	uc001wjo.3	-	3	1254	c.646_646CA>A	c.(646-648)atcfs	p.I216fs	EFS_uc001wjp.3_Frame_Shift_Del_p.I123fs|EFS_uc010tnm.2_Intron	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	216	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGCATAGATGGGGGGCCCC	0.612												
ARHGAP5	394	broad.mit.edu	37	14	32562545	32562546	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:32562544_32562545A>AT	uc001wrl.3	+	1	2908_2909	c.2669_2670A>AT	c.(2668-2670)gatfs	p.D890fs	ARHGAP5_uc001wrm.3_Frame_Shift_Ins_p.D890fs|ARHGAP5_uc001wrn.3_Frame_Shift_Ins_p.D890fs|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.	890					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.F892fs*9(2)|p.D890V(2)		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)		AGCCAAGCAGATTTTTTTGAAA	0.406												
SOCS4	122809	broad.mit.edu	37	14	55509879	55509880	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:55509878_55509879C>CA	uc021rti.1	+	0	119_120	c.119_120C>CA	c.(118-120)tcafs	p.S40fs	SOCS4_uc001xbo.3_Frame_Shift_Ins_p.S40fs|SOCS4_uc001xbp.3_Frame_Shift_Ins_p.S40fs	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	40					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TTATCTTGGTCAAAAAAGAGTG	0.401												
KTN1	3895	broad.mit.edu	37	14	56119761	56119762	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:56119760_56119761T>TA	uc001xcb.3	+	27	3022_3023	c.2720_2721T>TA	c.(2719-2721)ttafs	p.L907fs	KTN1_uc001xcc.3_Frame_Shift_Ins_p.L907fs|KTN1_uc001xcd.3_Frame_Shift_Ins_p.L884fs|KTN1_uc001xce.3_Frame_Shift_Ins_p.L907fs|KTN1_uc010trb.2_Frame_Shift_Ins_p.L907fs|KTN1_uc001xcf.1_Frame_Shift_Ins_p.L884fs|KTN1_uc010aoq.3_Frame_Shift_Ins_p.L202fs	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	907					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AATGAATCTTTAAAAGCACATG	0.257			T	RET	papillary thryoid							
OTX2	5015	broad.mit.edu	37	14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:57271048_57271048CG>C	uc001xcq.3	-	3	405	c.131_131CG>G	c.(130-132)cggfs	p.R44fs	OTX2_uc001xcp.3_Frame_Shift_Del_p.R36fs|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Frame_Shift_Del_p.R36fs	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.R44fs*52(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCGCTGTTTCCGGGGGGTGGC	0.632												
SYNE2	23224	broad.mit.edu	37	14	64494437	64494437	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:64494436_64494436TA>T	uc001xgl.3	+	42	6869	c.6639_6639TA>T	c.(6637-6639)actfs	p.T2213fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.T2213fs|SYNE2_uc021ruh.1_Frame_Shift_Del_p.T2213fs	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2213					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGAGTGCACTAAAAATCCCA	0.393												
HSPA2	3306	broad.mit.edu	37	14	65007975	65007975	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:65007974_65007974TG>T	uc001xhj.3	+	1	483	c.407_407TG>T	c.(406-408)ctgfs	p.L136fs	HSPA2_uc001xhk.4_Frame_Shift_Del_p.L136fs	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	136					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GAAGCCTACCTGGGGGGCAAG	0.582												
FUT8	2530	broad.mit.edu	37	14	66190983	66190984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr14:66190982_66190983C>CA	uc001xin.3	+	8	2927_2928	c.1200_1201C>CA	c.(1198-1203)gacaaafs	p.D400fs	FUT8_uc001xio.3_Frame_Shift_Ins_p.D400fs|FUT8_uc010tsp.2_Frame_Shift_Ins_p.D237fs|FUT8_uc001xir.4_Intron|FUT8_uc001xip.3_Frame_Shift_Ins_p.D400fs|FUT8_uc001xiq.3_Frame_Shift_Ins_p.D271fs|FUT8_uc021ruy.1_Frame_Shift_Ins_p.D271fs	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	400					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGCAAGTGGACAAAAAAAGAGT	0.421												
HERC2	8924	broad.mit.edu	37	15	28483908	28483908	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:28483907_28483907TA>T	uc001zbj.3	-	23	3695	c.3589_3589TA>A	c.(3589-3591)acafs	p.T1197fs		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1197					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			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		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)		TTCTGACCTGTAAAAAATGAC	0.368												
BUB1B	701	broad.mit.edu	37	15	40512768	40512768	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:40512767_40512767TA>T	uc001zkx.4	+	22	3172	c.2960_2960TA>T	c.(2959-2961)ctafs	p.L987fs	PAK6_uc010bbl.3_Intron|PAK6_uc010bbm.3_Intron	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	987	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ATTTTTAGGCTAAAAGATGGT	0.353			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome			
TTBK2	146057	broad.mit.edu	37	15	43044745	43044746	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:43044744_43044745C>CA	uc001zqo.2	-	13	3138_3139	c.2699_2700G>TG	c.(2698-2700)ttgfs	p.L900fs	TTBK2_uc010bcy.2_Frame_Shift_Ins_p.L831fs	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	900					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCTCTTGGTGCAAAAAAGTAGA	0.426												
TP53BP1	7158	broad.mit.edu	37	15	43733757	43733757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:43733756_43733756AT>A	uc001zrs.3	-	14	3199	c.3051_3051AT>T	c.(3049-3051)aatfs	p.N1017fs	TP53BP1_uc010udp.2_Frame_Shift_Del_p.N1017fs|TP53BP1_uc001zrq.4_Frame_Shift_Del_p.N1022fs|TP53BP1_uc001zrr.4_Frame_Shift_Del_p.N1022fs|TP53BP1_uc010udq.1_Frame_Shift_Del_p.N1022fs	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1017					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)		CAGTAGATCCATTTTTTCTTT	0.393								Other conserved DNA damage response genes				
SLC12A1	6557	broad.mit.edu	37	15	48543854	48543854	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:48543853_48543853CT>C	uc001zwn.4	+	14	2044	c.1828_1828CT>C	c.(1828-1830)cttfs	p.L610fs	SLC12A1_uc010uew.1_Frame_Shift_Del_p.L416fs|SLC12A1_uc010bem.3_Frame_Shift_Del_p.L610fs|SLC12A1_uc001zwq.4_Frame_Shift_Del_p.L381fs|SLC12A1_uc001zwr.4_Frame_Shift_Del_p.L337fs	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	610					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		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)	GTGGGTATCTCTTTTTGGAGC	0.413												
MEGF11	84465	broad.mit.edu	37	15	66191080	66191080	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:66191079_66191079AT>A	uc002apm.2	-	21	3102	c.2961_2961AT>T	c.(2959-2961)aatfs	p.N987fs	MEGF11_uc002apl.2_Frame_Shift_Del_p.N912fs|MEGF11_uc002apn.1_Frame_Shift_Del_p.N987fs	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	987						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CTTCATATATATTTTTATTAG	0.443												
C15orf59	388135	broad.mit.edu	37	15	74032267	74032267	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:74032266_74032266TC>T	uc002avy.3	-	1	1219	c.874_874GA>A	c.(874-876)aaafs	p.K292fs		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	Homo sapiens chromosome 15 open reading frame 59 (C15orf59), mRNA.	292										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCTAGTTTTTCCCCCTGGCT	0.478												
CLK3	1198	broad.mit.edu	37	15	74919886	74919888	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr15:74919885_74919887TGAG>T	uc010uln.2	+	8	1823_1825	c.1362_1364TGAG>T	c.(1360-1365)tgtgag>tgTg	p.E456del	CLK3_uc002ayg.4_In_Frame_Del_p.E308del|CLK3_uc002ayh.4_In_Frame_Del_p.E87del|CLK3_uc002ayj.4_In_Frame_Del_p.E285del|CLK3_uc002ayk.4_In_Frame_Del_p.E235del|CLK3_uc002ayl.4_In_Frame_Del_p.E141del	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	456	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TTCAGAGCTGTGAGGAGAAGTCA	0.571												
CACNA1H	8912	broad.mit.edu	37	16	1270496	1270496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:1270495_1270495GC>G	uc002cks.3	+	34	6811	c.6563_6563GC>G	c.(6562-6564)agcfs	p.S2188fs	CACNA1H_uc002ckt.3_Frame_Shift_Del_p.S2182fs|CACNA1H_uc002cku.3_Frame_Shift_Del_p.S883fs|CACNA1H_uc010brj.3_Frame_Shift_Del_p.S899fs|CACNA1H_uc002ckv.3_Frame_Shift_Del_p.S877fs	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2188					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	AAGAAGATGAGCCCCCCCTGC	0.746												
HCFC1R1	54985	broad.mit.edu	37	16	3073266	3073266	+	Frame_Shift_Del	DEL	G	G	-	rs147841549	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:3073265_3073265TG>T	uc002csx.1	-	3	383	c.250_250CA>A	c.(250-252)atgfs	p.M84fs	HCFC1R1_uc002csy.1_Frame_Shift_Del_p.M84fs|HCFC1R1_uc002csz.1_Frame_Shift_Del_p.M65fs|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_060355	Q9NWW0	HPIP_HUMAN	Homo sapiens host cell factor C1 regulator 1 (XPO1 dependent) (HCFC1R1), transcript variant 3, mRNA.	84						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GAGAAGGTCATGGGGGGGCTG	0.617												
GSPT1	2935	broad.mit.edu	37	16	11969760	11969760	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:11969759_11969759AT>A	uc010bux.3	-	13	1989	c.1306_1306AT>T	c.(1306-1308)tcafs	p.S436fs	GSPT1_uc002dbu.3_Frame_Shift_Del_p.S573fs|GSPT1_uc002dbt.3_Frame_Shift_Del_p.S574fs	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	Homo sapiens G1 to S phase transition 1 (GSPT1), transcript variant 3, mRNA.	436					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTTTCTCCTGATTTTTTGTCT	0.373												
PHKG2	5261	broad.mit.edu	37	16	30768017	30768018	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:30768016_30768017A>AC	uc002dzk.2	+	8	1117_1118	c.907_908A>AC	c.(907-909)accfs	p.T303fs	PHKG2_uc021tgo.1_Frame_Shift_Ins_p.T303fs	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	303					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CTGGAACCTCACCCCCCGCCAG	0.629												
PHKB	5257	broad.mit.edu	37	16	47684785	47684785	+	Frame_Shift_Del	DEL	A	A	-	rs35494330		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:47684784_47684784TA>T	uc002eev.4	+	19	1975	c.1923_1923TA>T	c.(1921-1923)cttfs	p.L641fs	PHKB_uc002eeu.4_Frame_Shift_Del_p.L634fs	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	641					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGGCAGCCCTTAAAAAAGGAA	0.338												
APRT	353	broad.mit.edu	37	16	88876126	88876128	+	In_Frame_Del	DEL	AGA	AGA	-	rs121912681		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:88876125_88876127GAGA>G	uc002flv.3	-	4	557_559	c.522_524TCTC>C	c.(520-525)ttctct>ttCt	p.S175del	APRT_uc002flw.3_Intron	NM_000485	NP_000476	P07741	APT_HUMAN	Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA.	175					purine ribonucleoside salvage	cytosol|nucleus	AMP binding|adenine phosphoribosyltransferase activity|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CTGCAGGAGAGAGAAGAAGGGTA	0.616												
ANKRD11	29123	broad.mit.edu	37	16	89349838	89349838	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr16:89349837_89349837CT>C	uc002fmx.1	-	8	3574	c.3113_3113AG>G	c.(3112-3114)agtfs	p.S1038fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.S1038fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.S1038fs|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.S995fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1038	Lys-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)		TGATTTCTCACTTTTGTCCTT	0.383												
C17orf97	400566	broad.mit.edu	37	17	263498	263498	+	Frame_Shift_Del	DEL	C	C	-	rs71369086		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:263497_263497AC>A	uc021tna.1	+	1	879	c.863_863AC>A	c.(862-864)gacfs	p.D288fs	C17orf97_uc010vpz.1_Non-coding_Transcript	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	318	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTCCACATTGACCCCGAGGCC	0.672												
PAFAH1B1	5048	broad.mit.edu	37	17	2579802	2579802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:2579801_2579801TA>T	uc002fuw.4	+	8	1471	c.903_903TA>T	c.(901-903)actfs	p.T301fs	PAFAH1B1_uc010ckb.2_Intron|PAFAH1B1_uc010vqz.2_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	301	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TTCTGTAGACTAAAAAAAGTG	0.358												
PHF23	79142	broad.mit.edu	37	17	7139748	7139748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:7139747_7139747CG>C	uc002gfa.3	-	3	726	c.499_499CG>G	c.(499-501)gtgfs	p.V167fs	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Frame_Shift_Del_p.V100fs|PHF23_uc010cma.3_Frame_Shift_Del_p.V37fs	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	167							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GAAAGGGGCACGGGGGTAAGA	0.607												
TNFSF12-TNFSF13	407977	broad.mit.edu	37	17	7463439	7463470	+	Frame_Shift_Del	DEL	TGGTGTCCGAATCCAGGATGCTGGAGTTTATC	TGGTGTCCGAATCCAGGATGCTGGAGTTTATC	-	rs7503669		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:7463438_7463469ATGGTGTCCGAATCCAGGATGCTGGAGTTTATC>A	uc002ghi.1	+	8	794_825	c.698_729ATGGTGTCCGAATCCAGGATGCTGGAGTTTATC>A	c.(697-729)tatggtgtccgaatccaggatgctggagtttatfs	p.Y233fs	SENP3_uc002ghm.3_5'Flank|EIF4A1_uc002gho.2_5'Flank|TNFSF12-TNFSF13_uc002ghj.2_Frame_Shift_Del_p.Y153fs|TNFSF12-TNFSF13_uc002ghk.2_Frame_Shift_Del_p.Y153fs|TNFSF12-TNFSF13_uc021tpb.1_Frame_Shift_Del_p.Y108fs|TNFSF12-TNFSF13_uc002ghl.2_Frame_Shift_Del_p.Y137fs|TNFSF12-TNFSF13_uc010vua.1_Frame_Shift_Del_p.Y125fs|TNFSF12-TNFSF13_uc010cmk.2_Frame_Shift_Del_p.Y126fs	NM_172089	NP_742086	Q8IZK7	Q8IZK7_HUMAN	Homo sapiens TNFSF12-TNFSF13 readthrough (TNFSF12-TNFSF13), mRNA.	233					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				GCCCAAGGATATGGTGTCCGAATCCAGGATGCTGGAGTTTATCTGCTGTATA	0.556											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ULK2	9706	broad.mit.edu	37	17	19729489	19729489	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:19729488_19729488TA>T	uc002gwm.4	-	10	1308	c.799_799TA>A	c.(799-801)agcfs	p.S267fs	ULK2_uc002gwn.3_Frame_Shift_Del_p.S267fs	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	267	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					AAAGGATGGCTAAAAAATGCT	0.299												
LGALS9	3965	broad.mit.edu	37	17	25958317	25958320	+	Frame_Shift_Del	DEL	CCTA	CCTA	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:25958316_25958319CCCTA>C	uc002gzp.3	+	0	143_146	c.25_28CCCTA>C	c.(25-30)ccctacfs	p.P9fs	LGALS9_uc002gzq.3_Frame_Shift_Del_p.P9fs|LGALS9_uc002gzr.3_5'UTR|LGALS9_uc010waa.2_5'UTR	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	9					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TTCCCAGGCTCCCTACCTGAGTCC	0.613												
NLK	51701	broad.mit.edu	37	17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	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												
SLFN5	162394	broad.mit.edu	37	17	33592319	33592319	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:33592318_33592318TC>T	uc002hjf.4	+	4	2204	c.2087_2087TC>T	c.(2086-2088)ctcfs	p.L696fs	SLFN5_uc010wcg.2_3'UTR	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	696					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGCAGTGGCCTCCCCCCTCCC	0.498												
PLEKHM1	9842	broad.mit.edu	37	17	43531274	43531274	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:43531273_43531273CG>C	uc002ija.3	-	6	2115	c.1945_1945CG>G	c.(1945-1947)gagfs	p.E649fs	PLEKHM1_uc010wjm.2_Frame_Shift_Del_p.E621fs|PLEKHM1_uc002ijb.3_Frame_Shift_Del_p.E124fs|PLEKHM1_uc010wjn.1_Frame_Shift_Del_p.E598fs|PLEKHM1_uc002ijc.3_Frame_Shift_Del_p.E103fs	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	649					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TGGGGCGCCTCGGGGGGTTCC	0.692												
NFE2L1	4779	broad.mit.edu	37	17	46128959	46128960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:46128958_46128959G>GC	uc002imz.4	+	1	1129_1130	c.478_479G>GC	c.(478-480)gccfs	p.A160fs	NFE2L1_uc002ina.4_Frame_Shift_Ins_p.A160fs|NFE2L1_uc002inb.4_Frame_Shift_Ins_p.A160fs|NFE2L1_uc002inc.1_Frame_Shift_Ins_p.A160fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	160	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.V163fs*14(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGGGCTGTAGCCCCCCCAGTC	0.589												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
EPB41L3	23136	broad.mit.edu	37	18	5433504	5433504	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:5433503_5433503AT>A	uc002kmt.1	-	7	963	c.877_877AT>T	c.(877-879)ttafs	p.L293fs	EPB41L3_uc010wzh.1_Frame_Shift_Del_p.L293fs|EPB41L3_uc002kmu.1_Frame_Shift_Del_p.L293fs|EPB41L3_uc010dkq.1_Frame_Shift_Del_p.L184fs|EPB41L3_uc010dks.1_Frame_Shift_Del_p.L315fs	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	293	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.K292E(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TACATTGATAATTTTTTGGCA	0.338												
SERPINB12	89777	broad.mit.edu	37	18	61228376	61228376	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr18:61228375_61228375CA>C	uc010xeo.2	+	3	502	c.502_502CA>C	c.(502-504)caafs	p.Q168fs	SERPINB12_uc010xen.2_Frame_Shift_Del_p.Q148fs	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	148					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.Q167K(1)|p.G168G(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TGTTGATTTCCAAAAAAACCC	0.388												
TLE2	7089	broad.mit.edu	37	19	3028733	3028735	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:3028732_3028734ATTC>A	uc010dth.3	-	1	355_357	c.92_94GAAT>T	c.(91-96)gaattc>gTtc	p.31_32EF>V	TLE2_uc002lww.3_In_Frame_Del_p.31_32EF>V|TLE2_uc010xhc.2_5'UTR|TLE2_uc010dti.3_In_Frame_Del_p.44_45EF>V|TLE2_uc010xhd.1_In_Frame_Del_p.31_32EF>V	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	31	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		AGAAACTGGAATTCTTCTTTGAT	0.655												
SAFB2	9667	broad.mit.edu	37	19	5595419	5595420	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:5595418_5595419GCT>G	uc002mcd.3	-	13	2084_2085	c.1872_1873AGC>C	c.(1870-1875)gagcgcfs	p.E624fs		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	624	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGCCTCTGGCGCTCTCTCTCCC	0.545												
FUT6	2528	broad.mit.edu	37	19	5832408	5832408	+	Frame_Shift_Del	DEL	G	G	-	rs112849079		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:5832407_5832407CG>C	uc002mdf.1	-	3	698	c.172_172CG>G	c.(172-174)gccfs	p.A58fs	FUT6_uc021unl.1_Frame_Shift_Del_p.A58fs|FUT6_uc002mdg.1_Frame_Shift_Del_p.A58fs|FUT6_uc002mdh.1_Frame_Shift_Del_p.A58fs|FUT6_uc021unm.1_Frame_Shift_Del_p.A58fs	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	58					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ATGGAGTGGGCGGGGGTCCCT	0.587												
MUC16	94025	broad.mit.edu	37	19	9049103	9049103	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:9049102_9049102GA>G	uc002mkp.3	-	4	32733	c.32529_32529TC>C	c.(32527-32529)ttcfs	p.F10843fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10845	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTACTATGGAAAAAAATGG	0.488												
DNM2	1785	broad.mit.edu	37	19	10940882	10940883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	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							
CCDC151	115948	broad.mit.edu	37	19	11545825	11545827	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:11545824_11545826AGAG>A	uc002mrs.3	-	0	155_157	c.12_14CTCT>T	c.(10-15)cctctg>ccTg	p.L5del	CCDC151_uc010dxz.3_In_Frame_Del_p.L5del|PRKCSH_uc002mrt.3_5'Flank|PRKCSH_uc002mru.3_5'Flank|PRKCSH_uc010xlz.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.3_5'Flank	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	5										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CGCCCTGCACAGAGGAGATGTCA	0.640											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FARSA	2193	broad.mit.edu	37	19	13041103	13041104	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:13041102_13041103T>TC	uc002mvs.2	-	3	485_486	c.437_438A>GA	c.(436-438)ggafs	p.G146fs	FARSA_uc010xmv.1_Frame_Shift_Ins_p.G146fs	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	146					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TCTCAGCCTGTCCCCCCCGGAC	0.653												
MPV17L2	84769	broad.mit.edu	37	19	18305819	18305820	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:18305818_18305819G>GC	uc010ebj.3	+	1	836_837	c.217_218G>GC	c.(217-219)gccfs	p.A73fs	MPV17L2_uc002nid.3_Frame_Shift_Ins_p.V162fs			Q567V2	M17L2_HUMAN	Homo sapiens MPV17 mitochondrial membrane protein-like 2 (MPV17L2), nuclear gene encoding mitochondrial protein, mRNA.	0						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653												
KIAA1683	80726	broad.mit.edu	37	19	18368676	18368676	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:18368675_18368675GC>G	uc010ebn.2	-	3	3635	c.3419_3419GC>C	c.(3418-3420)gccfs	p.A1140fs	PDE4C_uc002nil.4_5'Flank|PDE4C_uc021uql.1_5'Flank|KIAA1683_uc002nin.2_Frame_Shift_Del_p.A953fs|KIAA1683_uc010xqe.1_Frame_Shift_Del_p.A907fs|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	1140	IQ 5.|IQ 6.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GATGACCATGGCCCCCCGGTG	0.672												
MLL2	8085	broad.mit.edu	37	19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:36210763_36210763AC>A	uc021usv.1	+	2	514	c.514_514AC>A	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAA	0.637			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
KIRREL2	84063	broad.mit.edu	37	19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:36357213_36357213TC>T	uc002ocb.4	+	14	2158	c.1946_1946TC>T	c.(1945-1947)gtcfs	p.V649fs	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGC	0.627												
CAPN12	147968	broad.mit.edu	37	19	39230770	39230773	+	Frame_Shift_Del	DEL	AGAT	AGAT	-	rs59420559		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:39230769_39230772CAGAT>C	uc002ojd.1	-	4	957_960	c.648_651ATCTG>G	c.(646-651)tatctgfs	p.Y216fs		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	216	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGTTTTGTCTCAGATAGAGCACCT	0.623												
IL28B	282617	broad.mit.edu	37	19	39734465	39734465	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:39734464_39734464CT>C	uc010xut.2	-	4	494	c.492_splice	c.e4+1	p.K164_splice	IL28B_uc010xuu.2_Splice_Site_p.K164_splice	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	164					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTCACTCACCTTTTTTGGGG	0.682												
DYRK1B	9149	broad.mit.edu	37	19	40316563	40316563	+	Frame_Shift_Del	DEL	G	G	-	rs146845211		TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:40316562_40316562CG>C	uc002omj.3	-	10	1963	c.1683_1683CG>G	c.(1681-1683)ccgfs	p.P561fs	DYRK1B_uc002omi.3_Frame_Shift_Del_p.P533fs|DYRK1B_uc002omk.3_Frame_Shift_Del_p.P521fs	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	561	Poly-Pro.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	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)			CCATCAGCTCCGGGGGTGGTG	0.711												
TSKS	60385	broad.mit.edu	37	19	50243064	50243065	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:50243063_50243064T>TG	uc002ppm.3	-	10	1759_1760	c.1748_1749A>CA	c.(1747-1749)ccafs	p.P583fs		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	583							protein binding	p.P582T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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)		CCCCCTGTTTTGGGGGGGTTCC	0.545												
SIGLEC9	27180	broad.mit.edu	37	19	51631276	51631278	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:51631275_51631277CCTT>C	uc010yct.2	+	4	1180_1182	c.1085_1087CCTT>C	c.(1084-1089)tccttc>tCtc	p.F363del	SIGLEC9_uc002pvu.3_In_Frame_Del_p.F363del	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	363					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GTCTTCCTGTCCTTCTGCGTCAT	0.576												
PTPRH	5794	broad.mit.edu	37	19	55716887	55716887	+	Frame_Shift_Del	DEL	G	G	-	rs143790378	byFrequency	TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr19:55716886_55716886CG>C	uc002qjq.3	-	3	500	c.427_427CG>G	c.(427-429)gacfs	p.D143fs	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjs.2_Frame_Shift_Del_p.D150fs	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	143	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCTGGGCCGTCGGGGACCTCC	0.587												
C20orf194	25943	broad.mit.edu	37	20	3321212	3321213	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:3321211_3321212G>GA	uc002wii.2	-	9	971_972	c.920_921C>TC	c.(919-921)ttcfs	p.F307fs	C20orf194_uc002wij.3_Frame_Shift_Ins_p.F46fs|C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	307										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTTCAGAAGGGAAGTTAAAGTT	0.485												
RBL1	5933	broad.mit.edu	37	20	35696449	35696449	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr20:35696448_35696448TA>T	uc002xgi.3	-	2	511	c.432_432TA>A	c.(430-432)ttafs	p.L144fs	RBL1_uc002xgj.1_Frame_Shift_Del_p.L144fs|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	144					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GAAATATATCTAAAAAAATTG	0.333												
MED15	51586	broad.mit.edu	37	22	20939157	20939157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:20939156_20939156GC>G	uc002zsp.3	+	14	1898	c.1818_1818GC>G	c.(1816-1818)ccgfs	p.P606fs	MED15_uc002zsq.3_Frame_Shift_Del_p.P566fs|MED15_uc010gso.3_Frame_Shift_Del_p.P549fs|MED15_uc002zsr.3_Frame_Shift_Del_p.P540fs|MED15_uc011ahs.2_Frame_Shift_Del_p.P540fs|MED15_uc002zss.3_Frame_Shift_Del_p.P485fs|MED15_uc011ahu.2_Frame_Shift_Del_p.P316fs|MED15_uc002zst.3_Frame_Shift_Del_p.P222fs|MED15_uc002zsu.3_Frame_Shift_Del_p.P211fs	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	606	Poly-Pro.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CTCCCCCACCGCCCCCGGTGC	0.652												
SREBF2	6721	broad.mit.edu	37	22	42289201	42289201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:42289200_42289200AC>A	uc003bbi.3	+	11	2457	c.2288_2288AC>A	c.(2287-2289)cacfs	p.H763fs	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	763					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TGGCTCTGCCACCCCCTGGGC	0.597												
MCAT	27349	broad.mit.edu	37	22	43529199	43529199	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chr22:43529198_43529198AC>A	uc003bdl.1	-	3	1073	c.1024_1024GT>T	c.(1024-1026)ttcfs	p.F342fs	MCAT_uc003bdm.1_3'UTR	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	342					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GTTTGGGGGAACCCCCTGCCC	0.592												
CLCN4	1183	broad.mit.edu	37	X	10188763	10188763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:10188762_10188762AC>A	uc004csy.4	+	11	2467	c.2037_2037AC>A	c.(2035-2037)gaafs	p.E679fs	CLCN4_uc011mid.2_Frame_Shift_Del_p.E585fs	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	679						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCACGGAGGAACCCCCCGAGC	0.567												
ACE2	59272	broad.mit.edu	37	X	15613095	15613095	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:15613094_15613094TA>T	uc004cxa.1	-	1	387	c.219_219TA>A	c.(217-219)ttafs	p.L73fs	ACE2_uc004cxb.2_Frame_Shift_Del_p.L73fs	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	73					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ACTGTTCCTTTAAAAAGGCAG	0.403												
MCF2	4168	broad.mit.edu	37	X	138678779	138678780	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GN-01A-11D-A25D-08	TCGA-HU-A4GN-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd0249c5-ed73-4e8d-9b9e-96104b90255a	33760dd2-5baf-4630-b7dc-3f3597d6debb	g.chrX:138678778_138678779C>CA	uc011mwn.1	-	21	2647_2648	c.2641_2642G>TG	c.(2641-2643)tgcfs	p.C881fs	MCF2_uc004fav.3_Frame_Shift_Ins_p.C752fs|MCF2_uc004fau.3_Frame_Shift_Ins_p.C736fs|MCF2_uc010nsh.2_Frame_Shift_Ins_p.C736fs|MCF2_uc011mwm.2_Frame_Shift_Ins_p.C697fs|MCF2_uc011mwl.2_Frame_Shift_Ins_p.C713fs|MCF2_uc011mwo.1_Frame_Shift_Ins_p.C812fs|MCF2_uc004faw.2_Frame_Shift_Ins_p.C796fs|Mir_548_uc022cfd.1_5'Flank	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	736					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACGCCTTTTGCAAAAAACAATG	0.391