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
KIAA1751	85452	broad.mit.edu	37	1	1895280	1895280	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:1895280C>G	uc001aim.1	-	14	1758	c.1602G>C	c.(1600-1602)AAG>AAC	p.K534N	KIAA1751_uc009vkz.1_Missense_Mutation_p.K534N	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	534										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TGATCTTTTTCTTGTACACTT	0.547												
LRRC47	57470	broad.mit.edu	37	1	3712477	3712477	+	Silent	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:3712477G>A	uc001akx.1	-	1	592	c.564C>T	c.(562-564)GAC>GAT	p.D188D		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	188	LRR 5.				translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGAGGCAGTTGTCAGCAGCCG	0.687												
RNF207	388591	broad.mit.edu	37	1	6270330	6270330	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:6270330T>G	uc001amg.2	+	9	1022	c.848T>G	c.(847-849)TTG>TGG	p.L283W	RNF207_uc001amh.2_Silent_p.L171L|RNF207_uc010nzp.1_RNA	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	ring finger protein 207	283						intracellular	zinc ion binding				0	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CTCTCTCACTTGGCCACCTTG	0.687												
ASAP3	55616	broad.mit.edu	37	1	23763414	23763414	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:23763414G>C	uc001bha.2	-	15	1590	c.1466C>G	c.(1465-1467)TCC>TGC	p.S489C	ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.S358C|ASAP3_uc010oea.1_Missense_Mutation_p.S480C|ASAP3_uc001bhb.2_Missense_Mutation_p.S12C	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	489	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CAACAACTCGGAGGGGCCCAG	0.672												
SLC9A1	6548	broad.mit.edu	37	1	27428929	27428929	+	Silent	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:27428929C>T	uc001bnm.2	-	8	2393	c.1767G>A	c.(1765-1767)GTG>GTA	p.V589V	SLC9A1_uc001bnl.2_Silent_p.V93V|SLC9A1_uc010ofk.1_Silent_p.V250V	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	589	Cytoplasmic (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CCCCGCTCTCCACCAGCTCGA	0.602												
PUM1	9698	broad.mit.edu	37	1	31418206	31418206	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:31418206G>A	uc001bsi.1	-	18	3088	c.2975C>T	c.(2974-2976)GCG>GTG	p.A992V	PUM1_uc001bsf.1_Missense_Mutation_p.A660V|PUM1_uc001bsg.1_Missense_Mutation_p.A726V|PUM1_uc001bsh.1_Missense_Mutation_p.A994V|PUM1_uc001bsj.1_Missense_Mutation_p.A968V|PUM1_uc010oga.1_Missense_Mutation_p.A850V|PUM1_uc001bsk.1_Missense_Mutation_p.A1030V|PUM1_uc010ogb.1_Missense_Mutation_p.A933V|SNORD103A_uc009vts.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	992	PUM-HD.|Pumilio 5.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCCCTTAAACGCATCGATGAT	0.408												
COL11A1	1301	broad.mit.edu	37	1	103470026	103470026	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:103470026C>A	uc001dul.2	-	20	2236	c.1918G>T	c.(1918-1920)GGA>TGA	p.G640*	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Nonsense_Mutation_p.G652*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G601*|COL11A1_uc009weh.2_Nonsense_Mutation_p.G524*	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	640	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTCTTGGTCCAATTTCTCCA	0.303												
AKNAD1	254268	broad.mit.edu	37	1	109363183	109363183	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:109363183C>T	uc001dwa.2	-	14	2502	c.2233G>A	c.(2233-2235)GAG>AAG	p.E745K	AKNAD1_uc001dwb.2_Intron	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	745										ovary(3)	3						GGTGTGGGCTCATGTTCACCT	0.318												
KCNA3	3738	broad.mit.edu	37	1	111216728	111216728	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:111216728C>T	uc001dzv.1	-	1	928	c.704G>A	c.(703-705)GGC>GAC	p.G235D		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	235	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGGCGATGCCCCGGGCCGG	0.682												
UBE2Q1	55585	broad.mit.edu	37	1	154528413	154528413	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:154528413A>T	uc001fff.1	-	2	446	c.355T>A	c.(355-357)TGG>AGG	p.W119R		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q	119							ATP binding|protein binding|ubiquitin-protein ligase activity				0	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCACCGACCAGATGGGGGGC	0.527												
KIAA0907	22889	broad.mit.edu	37	1	155899127	155899127	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:155899127T>C	uc001fmi.1	-	4	448	c.424A>G	c.(424-426)AGG>GGG	p.R142G	KIAA0907_uc001fmj.1_Missense_Mutation_p.R142G|KIAA0907_uc009wrk.1_Missense_Mutation_p.R142G|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.R142G|KIAA0907_uc001fmm.2_Missense_Mutation_p.R142G|KIAA0907_uc001fmo.2_Missense_Mutation_p.R142G	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	142											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GTCATGAACCTCCCTCGAGTT	0.433												
NTRK1	4914	broad.mit.edu	37	1	156837949	156837949	+	Missense_Mutation	SNP	G	G	C	rs150271893	byFrequency	TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:156837949G>C	uc001fqh.1	+	5	538	c.482G>C	c.(481-483)CGC>CCC	p.R161P	NTRK1_uc001fqf.1_Missense_Mutation_p.R131P|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.R161P|NTRK1_uc009wsk.1_Missense_Mutation_p.R161P	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	161	LRRCT.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TGGCTACAGCGCTGGGAGGAG	0.647			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)		
FMO3	2328	broad.mit.edu	37	1	171086533	171086533	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:171086533T>G	uc001ghi.2	+	9	1661	c.1550T>G	c.(1549-1551)CTC>CGC	p.L517R	FMO3_uc001ghh.2_Missense_Mutation_p.L517R|FMO3_uc010pmb.1_Missense_Mutation_p.L497R|FMO3_uc010pmc.1_Missense_Mutation_p.L454R	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	517					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGCTGAAGCTCTTTGCAATT	0.453												
HMCN1	83872	broad.mit.edu	37	1	186023018	186023018	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:186023018A>C	uc001grq.1	+	44	6991	c.6762A>C	c.(6760-6762)TTA>TTC	p.L2254F		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2254	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GCAGGCAATTACAAATTTCAA	0.428												
PIK3C2B	5287	broad.mit.edu	37	1	204429459	204429459	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:204429459T>G	uc001haw.2	-	8	1974	c.1495A>C	c.(1495-1497)ATC>CTC	p.I499L	PIK3C2B_uc010pqv.1_Missense_Mutation_p.I499L|PIK3C2B_uc001hax.1_Missense_Mutation_p.I499L|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	499					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CACCTGCTGATGGTCTGCTTG	0.522												
DUSP10	11221	broad.mit.edu	37	1	221879717	221879717	+	Silent	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:221879717G>A	uc001hmy.1	-	3	1085	c.903C>T	c.(901-903)TCC>TCT	p.S301S	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	301					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		TCGAGGCCGCGGATGCGCCGC	0.587												
DISP1	84976	broad.mit.edu	37	1	223116388	223116388	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:223116388C>G	uc001hnu.1	+	2	370	c.223C>G	c.(223-225)CCT>GCT	p.P75A		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	75					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		CCAAAGAATGCCTCAGATGTT	0.498												
C1orf55	163859	broad.mit.edu	37	1	226175632	226175632	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:226175632C>T	uc001hpu.3	-	6	1152	c.1099G>A	c.(1099-1101)GTT>ATT	p.V367I	C1orf55_uc001hpv.2_Missense_Mutation_p.V367I	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	367										lung(1)	1	Breast(184;0.197)					AGTTTGGCAACGGCAACGTTT	0.458												
OR2T6	254879	broad.mit.edu	37	1	248551027	248551027	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:248551027A>G	uc001iei.1	+	1	118	c.118A>G	c.(118-120)ATA>GTA	p.I40V		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGGCCATGATAGCTAATGG	0.468												
NDST2	8509	broad.mit.edu	37	10	75563058	75563058	+	Silent	SNP	T	T	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:75563058T>C	uc001jvk.2	-	12	3006	c.2202A>G	c.(2200-2202)TCA>TCG	p.S734S	NDST2_uc010qks.1_Silent_p.S360S|NDST2_uc010qkt.1_Silent_p.S611S|NDST2_uc001jvl.1_Silent_p.S141S|NDST2_uc009xro.2_Silent_p.S360S|NDST2_uc010qku.1_Silent_p.S609S	NM_003635	NP_003626	P52849	NDST2_HUMAN	heparan glucosaminyl	734	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1	Prostate(51;0.0112)					GGGAGGAGGCTGAAATCACCT	0.527												
FAM190B	54462	broad.mit.edu	37	10	86177563	86177563	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:86177563G>T	uc001kdh.1	+	4	1845	c.1651G>T	c.(1651-1653)GAT>TAT	p.D551Y	FAM190B_uc010qmd.1_Missense_Mutation_p.D551Y|FAM190B_uc001kdi.1_5'UTR	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN	granule cell antiserum positive 14	551										ovary(3)|skin(1)	4						TGACCTTGAGGATGATGATCT	0.348												
PDLIM1	9124	broad.mit.edu	37	10	97023620	97023620	+	Splice_Site	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:97023620C>T	uc001kkh.2	-	4	642	c.533_splice	c.e4+1	p.P178_splice	PDLIM1_uc001kki.2_Splice_Site_p.P178_splice|PDLIM1_uc009xuv.2_Splice_Site_p.P178_splice|PDLIM1_uc001kkj.1_Splice_Site_p.P178_splice	NM_020992	NP_066272	O00151	PDLI1_HUMAN	PDZ and LIM domain 1						response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding				0		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGGCTACTTACGGTCTGCTGT	0.582												
TLL2	7093	broad.mit.edu	37	10	98172985	98172985	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:98172985C>T	uc001kml.1	-	8	1238	c.1012G>A	c.(1012-1014)GAC>AAC	p.D338N	TLL2_uc009xvf.1_Missense_Mutation_p.D286N	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	338	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGAGCTATGTCTCCCTGACTG	0.557												
TAF5	6877	broad.mit.edu	37	10	105145090	105145090	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:105145090C>A	uc001kwv.2	+	8	1695	c.1672C>A	c.(1672-1674)CTG>ATG	p.L558M	TAF5_uc010qqq.1_Intron	NM_006951	NP_008882	Q15542	TAF5_HUMAN	TBP-associated factor 5	558	WD 2.				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(2)	2		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CAGGAACTATCTGCTTTCCTC	0.383												
NRAP	4892	broad.mit.edu	37	10	115377264	115377264	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:115377264C>T	uc001laj.2	-	26	3087	c.2923G>A	c.(2923-2925)GAC>AAC	p.D975N	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.D940N|NRAP_uc001lal.3_Missense_Mutation_p.D975N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	975	Nebulin 25.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCCGGAGTGTCTTTAATACTG	0.408												
RAB11FIP2	22841	broad.mit.edu	37	10	119805578	119805578	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:119805578T>C	uc001ldj.1	-	1	537	c.97A>G	c.(97-99)ACC>GCC	p.T33A	RAB11FIP2_uc009xyz.1_Missense_Mutation_p.T33A|CASC2_uc001ldm.3_5'Flank|CASC2_uc009xzc.2_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xza.2_5'Flank|CASC2_uc009xzb.2_5'Flank	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	33	C2.|Necessary for its cellular translocation to the plasma membrane.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)		GTGTCATTGGTACCACTTTTG	0.493												
GPR123	84435	broad.mit.edu	37	10	134942261	134942261	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr10:134942261G>A	uc001llx.3	+	7	1365	c.929G>A	c.(928-930)CGT>CAT	p.R310H	GPR123_uc001llw.2_Missense_Mutation_p.R1029H	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	310	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGCGCCAAGCGTGAGGACGTG	0.692												
MUC5B	727897	broad.mit.edu	37	11	1276096	1276097	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:1276096_1276097CC>AG	uc009ycr.1	+	57	16787_16788	c.16661_16662CC>AG	c.(16660-16662)ACC>AAG	p.T5554K	MUC5B_uc001ltb.2_Missense_Mutation_p.T5220K	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5217	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACAACAACACCGAGGGCCAGT	0.658												
OR52L1	338751	broad.mit.edu	37	11	6007357	6007357	+	Silent	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:6007357G>A	uc001mcd.2	-	1	859	c.804C>T	c.(802-804)GTC>GTT	p.V268V		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	268	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGACATAGAAGACCAGGATGA	0.512												
SLC6A5	9152	broad.mit.edu	37	11	20657905	20657905	+	Silent	SNP	C	C	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:20657905C>G	uc001mqd.2	+	11	1950	c.1677C>G	c.(1675-1677)CTC>CTG	p.L559L	SLC6A5_uc009yic.2_Silent_p.L324L	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	559	Helical; Name=8; (Potential).				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)|skin(1)	4					Glycine(DB00145)	GGCTGCCTCTCTCTCCGTTCT	0.493												
LTBP3	4054	broad.mit.edu	37	11	65315174	65315174	+	Silent	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:65315174C>T	uc001oej.2	-	13	2234	c.1965G>A	c.(1963-1965)GGG>GGA	p.G655G	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Silent_p.G85G|LTBP3_uc010roi.1_Silent_p.G538G|LTBP3_uc001oei.2_Silent_p.G655G|LTBP3_uc010roj.1_Silent_p.G356G|LTBP3_uc010rok.1_Silent_p.G566G	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	655	EGF-like 4; calcium-binding (Potential).|Cys-rich.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						CGCACGAGCGCCCCCCGGCGC	0.736												
RAB30	27314	broad.mit.edu	37	11	82698634	82698634	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:82698634A>G	uc001ozu.2	-	5	617	c.356T>C	c.(355-357)TTA>TCA	p.L119S	RAB30_uc009yve.2_Missense_Mutation_p.L117S|RAB30_uc010rst.1_Missense_Mutation_p.L117S|RAB30_uc001ozv.2_Missense_Mutation_p.L117S|RAB30_uc009yvg.1_Missense_Mutation_p.L89S	NM_014488	NP_055303	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	119					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity				0						CTTACCCACTAACACAGTGAT	0.433												
MMP20	9313	broad.mit.edu	37	11	102482556	102482556	+	Silent	SNP	G	G	A	rs143965716	byFrequency	TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:102482556G>A	uc001phc.2	-	3	466	c.453C>T	c.(451-453)AGC>AGT	p.S151S		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	151					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GAGGGACGGCGCTACTCCAGG	0.443												
ELMOD1	55531	broad.mit.edu	37	11	107535878	107535878	+	Silent	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:107535878G>A	uc010rvs.1	+	12	1364	c.960G>A	c.(958-960)GCG>GCA	p.A320A	ELMOD1_uc001pjm.2_Silent_p.A312A|ELMOD1_uc010rvt.1_Silent_p.A314A	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	320					phagocytosis	cytoskeleton	GTPase activator activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CAGACATGGCGCTGTGCCCAC	0.478												
PIH1D2	120379	broad.mit.edu	37	11	111942457	111942457	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:111942457A>C	uc001pmq.3	-	3	285	c.203T>G	c.(202-204)ATC>AGC	p.I68S	PIH1D2_uc009yyl.2_Missense_Mutation_p.I68S|PIH1D2_uc001pmp.3_Missense_Mutation_p.I68S|PIH1D2_uc010rws.1_Missense_Mutation_p.I68S|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2 isoform 1	68										ovary(1)	1		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		ACACAGGTTGATAAAAAGTAT	0.333												
MLL	4297	broad.mit.edu	37	11	118390341	118390341	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:118390341G>A	uc001pta.2	+	32	11169	c.11146G>A	c.(11146-11148)GGT>AGT	p.G3716S	MLL_uc001ptb.2_Missense_Mutation_p.G3719S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3716	FYR C-terminal.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGGTGTTAACGGTTTGAGGAT	0.478			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
LRMP	4033	broad.mit.edu	37	12	25232696	25232696	+	Silent	SNP	A	A	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:25232696A>G	uc001rgh.2	+	8	1277	c.243A>G	c.(241-243)CAA>CAG	p.Q81Q	LRMP_uc001rgg.1_RNA|LRMP_uc010sja.1_Silent_p.Q81Q|LRMP_uc010sjb.1_Silent_p.Q28Q|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Silent_p.Q81Q|LRMP_uc010sjd.1_Silent_p.Q28Q	NM_006152	NP_006143	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	137	Cytoplasmic (Potential).				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TAGAGGCCCAAGGTAAAATGT	0.383												
SLC48A1	55652	broad.mit.edu	37	12	48174023	48174023	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:48174023C>T	uc001rqd.2	+	3	521	c.400C>T	c.(400-402)CGG>TGG	p.R134W	SLC48A1_uc001rqc.2_RNA	NM_017842	NP_060312	Q6P1K1	HRG1_HUMAN	heme-responsive gene 1	134					transport	endosome membrane|integral to membrane|lysosomal membrane					0						CCACCGCTACCGGGCTGACTT	0.602												
MLL2	8085	broad.mit.edu	37	12	49431894	49431894	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:49431894C>T	uc001rta.3	-	34	9245	c.9245G>A	c.(9244-9246)CGG>CAG	p.R3082Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3082					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						CAGGGCCTCCCGTTCAGCCTT	0.612			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
TUBA1C	84790	broad.mit.edu	37	12	49663249	49663249	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:49663249G>C	uc001rtt.1	+	2	105	c.5G>C	c.(4-6)CGT>CCT	p.R2P	TUBA1C_uc001rts.2_5'UTR|TUBA1C_uc010smh.1_Missense_Mutation_p.R72P	NM_032704	NP_116093	Q9BQE3	TBA1C_HUMAN	tubulin alpha 6	2					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0						CTCCCACAGCGTGAGTGCATC	0.502												
AAAS	8086	broad.mit.edu	37	12	53708088	53708088	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:53708088G>C	uc001scr.3	-	7	846	c.683C>G	c.(682-684)TCT>TGT	p.S228C	AAAS_uc001scs.3_Missense_Mutation_p.S195C	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency,	228	WD 2.				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				ovary(1)	1						TTACCGGGTAGACAAGGAGGT	0.552												
CKAP4	10970	broad.mit.edu	37	12	106633923	106633923	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:106633923A>C	uc001tlk.2	-	2	772	c.688T>G	c.(688-690)TTC>GTC	p.F230V		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	230						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						AGGGACGTGAAGTCCCGCTCC	0.567												
TBX5	6910	broad.mit.edu	37	12	114803972	114803972	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:114803972T>G	uc001tvo.2	-	8	1475	c.980A>C	c.(979-981)AAA>ACA	p.K327T	TBX5_uc001tvp.2_Missense_Mutation_p.K327T|TBX5_uc001tvq.2_Missense_Mutation_p.K277T|TBX5_uc010syv.1_Missense_Mutation_p.K327T	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	327					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACACTCACCTTTCCTCTTGGT	0.502												
LRRC43	254050	broad.mit.edu	37	12	122676081	122676081	+	Silent	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:122676081C>T	uc009zxm.2	+	6	1081	c.1056C>T	c.(1054-1056)GGC>GGT	p.G352G	LRRC43_uc001ubw.3_Silent_p.G167G|LRRC43_uc009zxn.2_Silent_p.G113G	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	352	Glu-rich.										0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		ATGAAGAAGGCGAAATGAATG	0.552											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C13orf23	80209	broad.mit.edu	37	13	39588424	39588424	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr13:39588424G>C	uc001uwy.2	-	11	1838	c.965C>G	c.(964-966)TCA>TGA	p.S322*	C13orf23_uc001uwz.2_Nonsense_Mutation_p.S300*	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	322	Pro-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		GTGAACGGCTGAGGAGACCTG	0.507												
KLHL1	57626	broad.mit.edu	37	13	70681344	70681344	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr13:70681344C>A	uc001vip.2	-	1	1282	c.488G>T	c.(487-489)TGT>TTT	p.C163F	KLHL1_uc010thm.1_Missense_Mutation_p.C163F|ATXN8OS_uc010aej.1_5'Flank	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	163					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGTGTCCACATCCTTCACC	0.512												
UCHL3	7347	broad.mit.edu	37	13	76135004	76135004	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr13:76135004C>G	uc001vjq.2	+	3	200	c.170C>G	c.(169-171)CCT>CGT	p.P57R	UCHL3_uc001vjr.2_Missense_Mutation_p.P21R	NM_006002	NP_005993	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3	57					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity				0				GBM - Glioblastoma multiforme(99;0.0125)		CTTCTCTTTCCTATTACAGAA	0.284												
NALCN	259232	broad.mit.edu	37	13	101712255	101712255	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr13:101712255C>T	uc001vox.1	-	42	5009	c.4820G>A	c.(4819-4821)CGG>CAG	p.R1607Q		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1607	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTTCAGAAACCGGCTCAGCTC	0.532												
DDHD1	80821	broad.mit.edu	37	14	53513599	53513599	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr14:53513599C>A	uc001xai.2	-	13	2820	c.2590G>T	c.(2590-2592)GTC>TTC	p.V864F	DDHD1_uc001xaj.2_Missense_Mutation_p.V843F|DDHD1_uc001xah.2_Missense_Mutation_p.V836F|DDHD1_uc001xag.2_Missense_Mutation_p.V418F	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	864	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					TGCGACGTGACAGCTGACCAA	0.403												
SPTB	6710	broad.mit.edu	37	14	65259825	65259825	+	Silent	SNP	C	C	T	rs141787926		TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr14:65259825C>T	uc001xht.2	-	13	2610	c.2556G>A	c.(2554-2556)ACG>ACA	p.T852T	SPTB_uc001xhr.2_Silent_p.T852T|SPTB_uc001xhs.2_Silent_p.T852T|SPTB_uc001xhu.2_Silent_p.T852T	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	852	Spectrin 6.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCCGAACACCGTGTACAGGT	0.642												
AK7	122481	broad.mit.edu	37	14	96922757	96922757	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr14:96922757A>G	uc001yfn.2	+	11	1216	c.1172A>G	c.(1171-1173)TAC>TGC	p.Y391C		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	391	Adenylate kinase.|Potential.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GCCAACTACTACAAACTGCAT	0.393												
BEGAIN	57596	broad.mit.edu	37	14	101012976	101012976	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr14:101012976T>G	uc010txa.1	-	2	184	c.38A>C	c.(37-39)GAG>GCG	p.E13A	BEGAIN_uc001yhp.2_5'UTR|BEGAIN_uc001yhq.2_Missense_Mutation_p.E13A	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	13						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				CTTGCGCAGCTCGCCCTTCTG	0.582												
MARK3	4140	broad.mit.edu	37	14	103871565	103871565	+	Silent	SNP	A	A	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr14:103871565A>G	uc001ymz.3	+	2	870	c.204A>G	c.(202-204)GCA>GCG	p.A68A	MARK3_uc001ymx.3_Silent_p.A68A|MARK3_uc001ymw.3_Silent_p.A68A|MARK3_uc001yna.3_Silent_p.A68A|MARK3_uc001ymy.3_Silent_p.A68A|MARK3_uc010awp.2_Silent_p.A68A	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	68	ATP (By similarity).|Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|stomach(1)	4		Melanoma(154;0.155)	Epithelial(46;0.241)			GGAATTTTGCAAAAGTAAAAT	0.408												
C15orf55	256646	broad.mit.edu	37	15	34649144	34649144	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr15:34649144G>A	uc001zif.2	+	7	3006	c.2851G>A	c.(2851-2853)GAG>AAG	p.E951K	C15orf55_uc010ucc.1_Missense_Mutation_p.E979K|C15orf55_uc010ucd.1_Missense_Mutation_p.E969K	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	951						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TCCTTTACAAGAGAGTCAGGA	0.507			T	BRD3|BRD4	lethal midline carcinoma							
WDR72	256764	broad.mit.edu	37	15	53908006	53908006	+	Silent	SNP	C	C	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr15:53908006C>A	uc002acj.2	-	15	2439	c.2397G>T	c.(2395-2397)CTG>CTT	p.L799L	WDR72_uc010bfi.1_Silent_p.L799L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	799										lung(1)|skin(1)	2				all cancers(107;0.0511)		AAAGGCAAGACAGAAACAATT	0.363												
AKAP13	11214	broad.mit.edu	37	15	86266314	86266314	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr15:86266314G>C	uc002blv.1	+	26	6678	c.6508G>C	c.(6508-6510)GAG>CAG	p.E2170Q	AKAP13_uc002blu.1_Missense_Mutation_p.E2174Q|AKAP13_uc010bnf.1_Missense_Mutation_p.E791Q|AKAP13_uc002blw.1_Missense_Mutation_p.E635Q|AKAP13_uc002blx.1_Missense_Mutation_p.E415Q	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2170	Interaction with ESR1.|DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CAATGAAGTGGAGCAGGAAGA	0.433												
MEFV	4210	broad.mit.edu	37	16	3294540	3294540	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr16:3294540T>C	uc002cun.1	-	7	1699	c.1659A>G	c.(1657-1659)ATA>ATG	p.I553M		NM_000243	NP_000234	O15553	MEFV_HUMAN	Mediterranean fever protein	553					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)	TCTTTTGTTTTATCTCTTGAG	0.507												
FBXO31	79791	broad.mit.edu	37	16	87377307	87377307	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr16:87377307G>C	uc002fjw.2	-	4	598	c.554C>G	c.(553-555)CCT>CGT	p.P185R	FBXO31_uc010vot.1_Missense_Mutation_p.P13R|FBXO31_uc002fjv.2_Missense_Mutation_p.P77R	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	185					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GAATCTCATAGGGTCATCGAC	0.587												
ANKRD11	29123	broad.mit.edu	37	16	89357087	89357087	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr16:89357087G>A	uc002fmx.1	-	6	1008	c.547C>T	c.(547-549)CGC>TGC	p.R183C	ANKRD11_uc002fmy.1_Missense_Mutation_p.R183C|ANKRD11_uc002fnc.1_Missense_Mutation_p.R183C|ANKRD11_uc002fnd.2_Missense_Mutation_p.R149C|ANKRD11_uc002fne.2_Missense_Mutation_p.R149C|ANKRD11_uc002fnb.1_Missense_Mutation_p.R140C	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	183	ANK 1.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTTTGATGCGCCGGGCGTCC	0.622												
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:7578212G>A	uc002gim.2	-	6	831	c.637C>T	c.(637-639)CGA>TGA	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and 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.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532		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)		
PIK3R6	146850	broad.mit.edu	37	17	8707449	8707449	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:8707449G>A	uc002glq.1	-	20	2258	c.2018C>T	c.(2017-2019)ACG>ATG	p.T673M	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	673					platelet activation	cytosol					0						GATATTGTTCGTCCTGAAGGT	0.572												
DNAH9	1770	broad.mit.edu	37	17	11711130	11711130	+	Silent	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:11711130G>C	uc002gne.2	+	44	8570	c.8502G>C	c.(8500-8502)CTG>CTC	p.L2834L	DNAH9_uc010coo.2_Silent_p.L2128L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2834	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCAGAGCCTGACAAGGCTGG	0.547												
ATAD5	79915	broad.mit.edu	37	17	29182287	29182287	+	Silent	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:29182287G>A	uc002hfs.1	+	7	2923	c.2577G>A	c.(2575-2577)GTG>GTA	p.V859V	ATAD5_uc002hft.1_Silent_p.V756V	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	859					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CGCTGGATGTGTACAATGCAG	0.388												
GSDMA	284110	broad.mit.edu	37	17	38131252	38131252	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:38131252G>A	uc002htl.1	+	10	1124	c.1006G>A	c.(1006-1008)GTT>ATT	p.V336I	GSDMA_uc002htm.1_Missense_Mutation_p.V336I	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	336					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0						CCTCTATTTCGTTGGAGCCCT	0.443												
CSF3	1440	broad.mit.edu	37	17	38173124	38173124	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:38173124G>A	uc002htp.2	+	5	576	c.536G>A	c.(535-537)CGC>CAC	p.R179H	CSF3_uc002hto.2_Missense_Mutation_p.R176H|CSF3_uc002htq.2_Missense_Mutation_p.R172H|CSF3_uc010wep.1_Missense_Mutation_p.R136H	NM_000759	NP_000750	P09919	CSF3_HUMAN	colony stimulating factor 3 isoform a precursor	179					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			ovary(1)	1	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCTTTCCAGCGCCGGGCAGGA	0.652												
HEXIM1	10614	broad.mit.edu	37	17	43227413	43227413	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:43227413G>C	uc002iig.2	+	1	2730	c.856G>C	c.(856-858)GAG>CAG	p.E286Q		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	286	Mediates interaction with CCNT1.|Potential.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1						GAGCAAGCAGGAGCTCATCAA	0.622												
KIF2B	84643	broad.mit.edu	37	17	51902309	51902309	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr17:51902309G>A	uc002iua.2	+	1	2071	c.1915G>A	c.(1915-1917)GCC>ACC	p.A639T	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	639					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						TTTTTGCATTGCCCGGTCTTT	0.448												
ZFP161	7541	broad.mit.edu	37	18	5292000	5292000	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr18:5292000C>A	uc002kmq.2	-	4	368	c.207G>T	c.(205-207)GAG>GAT	p.E69D	ZFP161_uc002kmr.2_Missense_Mutation_p.E69D|ZFP161_uc010dkp.2_Missense_Mutation_p.E69D	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	69	BTB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AACTATCAACCTCAAGCTTCT	0.378												
C18orf54	162681	broad.mit.edu	37	18	51888235	51888235	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr18:51888235A>G	uc002lfn.3	+	3	622	c.506A>G	c.(505-507)CAT>CGT	p.H169R	C18orf54_uc002lfo.3_Missense_Mutation_p.H169R	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	169						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AAGAATCCACATTTTCAAGGA	0.408												
KIAA1468	57614	broad.mit.edu	37	18	59925233	59925233	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr18:59925233A>C	uc002lil.2	+	14	2164	c.1949A>C	c.(1948-1950)GAA>GCA	p.E650A	KIAA1468_uc002lik.1_Missense_Mutation_p.E650A|KIAA1468_uc010xel.1_Missense_Mutation_p.E650A|KIAA1468_uc002lim.2_Missense_Mutation_p.E294A	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	650	HEAT 2.						binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				ATGTTAATGGAAGATAAGGCA	0.333												
TMEM59L	25789	broad.mit.edu	37	19	18729278	18729278	+	Silent	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:18729278G>A	uc002njy.3	+	7	963	c.876G>A	c.(874-876)GCG>GCA	p.A292A		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	292						Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						TGGTGACCGCGCCTGGCCAGC	0.657												
ZNF345	25850	broad.mit.edu	37	19	37369000	37369000	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:37369000A>G	uc002oex.2	+	3	1646	c.1268A>G	c.(1267-1269)GAG>GGG	p.E423G	ZNF345_uc002oey.3_Missense_Mutation_p.E423G|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	423					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACACTGGTGAGAAACCCTAT	0.408												
ZNF569	148266	broad.mit.edu	37	19	37904383	37904383	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:37904383G>C	uc002ogi.2	-	6	1735	c.1177C>G	c.(1177-1179)CAA>GAA	p.Q393E	ZNF569_uc002ogh.2_Missense_Mutation_p.Q234E|ZNF569_uc002ogj.2_Missense_Mutation_p.Q417E	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	393	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTGAGCTTTGAGAGAAGGCT	0.388												
RYR1	6261	broad.mit.edu	37	19	39019004	39019004	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:39019004G>T	uc002oit.2	+	74	11013	c.10883G>T	c.(10882-10884)CGC>CTC	p.R3628L	RYR1_uc002oiu.2_Missense_Mutation_p.R3623L|RYR1_uc002oiv.1_Missense_Mutation_p.R543L|RYR1_uc010xuf.1_Missense_Mutation_p.R548L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3628					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)	TCCAAACAGCGCCGGCGGGCA	0.612												
HIPK4	147746	broad.mit.edu	37	19	40889902	40889902	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:40889902C>T	uc002onp.2	-	2	895	c.610G>A	c.(610-612)GTC>ATC	p.V204I		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	204	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TCAGCCATGACGCAGCCCAGG	0.642												
RAB4B	53916	broad.mit.edu	37	19	41289882	41289882	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:41289882G>T	uc002opd.1	+	5	442	c.332G>T	c.(331-333)AGC>ATC	p.S111I	RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_Intron|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.S137I	NM_016154	NP_057238	P61018	RAB4B_HUMAN	ras-related GTP-binding protein 4b	111					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACCCTGGCCAGCCCCAACATC	0.622												
PRR19	284338	broad.mit.edu	37	19	42814223	42814223	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:42814223C>G	uc002oti.2	+	2	865	c.487C>G	c.(487-489)CGG>GGG	p.R163G	PRR19_uc002oth.1_Missense_Mutation_p.R163G|PRR19_uc002otj.2_Missense_Mutation_p.R163G	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	proline rich 19	163											0		Prostate(69;0.00682)				GGCCTTCCCCCGGAGGAACCT	0.637												
PSG1	5669	broad.mit.edu	37	19	43382106	43382106	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:43382106C>G	uc002ovb.2	-	2	527	c.389G>C	c.(388-390)GGG>GCG	p.G130A	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.G130A|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.G130A|PSG1_uc010eio.1_Missense_Mutation_p.G130A|PSG1_uc002oux.1_Missense_Mutation_p.G59A|PSG1_uc002ouy.1_Missense_Mutation_p.G130A|PSG1_uc002ouz.1_Missense_Mutation_p.G130A|PSG1_uc002ova.1_Missense_Mutation_p.G130A|PSG1_uc002ovc.2_Missense_Mutation_p.G130A|PSG1_uc002ovd.1_Missense_Mutation_p.G130A	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	130	Ig-like V-type.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				TCCTCTAGTCCCATCATCTCC	0.507												
ZNF473	25888	broad.mit.edu	37	19	50548396	50548396	+	Silent	SNP	T	T	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:50548396T>G	uc002prn.2	+	5	933	c.696T>G	c.(694-696)ACT>ACG	p.T232T	ZNF473_uc002prm.2_Silent_p.T232T|ZNF473_uc010ybo.1_Silent_p.T220T	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	232					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)		TCACTCATACTAGGGAGAAAC	0.463												
ZFP28	140612	broad.mit.edu	37	19	57065109	57065109	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:57065109G>A	uc002qnj.2	+	8	1026	c.955G>A	c.(955-957)GAA>AAA	p.E319K	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TTCATATGCTGAAGGGGTAAC	0.403												
PEG3	5178	broad.mit.edu	37	19	57325084	57325084	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:57325084G>A	uc002qnu.2	-	7	5077	c.4726C>T	c.(4726-4728)CGC>TGC	p.R1576C	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R1547C|PEG3_uc002qnv.2_Missense_Mutation_p.R1576C|PEG3_uc002qnw.2_Missense_Mutation_p.R1452C|PEG3_uc002qnx.2_Missense_Mutation_p.R1450C|PEG3_uc010etr.2_Missense_Mutation_p.R1576C|PEG3AS_uc010ets.1_RNA	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1576	C2H2-type 12.		R -> L.		apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGGACAGGCGGTCATTGAAG	0.532												
ZNF543	125919	broad.mit.edu	37	19	57840315	57840315	+	Silent	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:57840315G>A	uc002qoi.1	+	4	1830	c.1485G>A	c.(1483-1485)ACG>ACA	p.T495T		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	495	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACACCTCACGAGGCACCAAC	0.522												
ZNF552	79818	broad.mit.edu	37	19	58319637	58319637	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr19:58319637G>C	uc002qqg.2	-	3	1165	c.995C>G	c.(994-996)TCA>TGA	p.S332*	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Nonsense_Mutation_p.S328*	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	332	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGGGTAAATGACTTCCCACA	0.448												
GEN1	348654	broad.mit.edu	37	2	17952527	17952527	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:17952527G>C	uc002rct.2	+	7	848	c.775G>C	c.(775-777)GCT>CCT	p.A259P	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.A259P|GEN1_uc002rcu.2_Missense_Mutation_p.A259P	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	259					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAAAAAACTGGCTCATTGTTC	0.338								Homologous_recombination				
PLB1	151056	broad.mit.edu	37	2	28814580	28814580	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:28814580G>T	uc002rmb.1	+	31	2141	c.2141G>T	c.(2140-2142)TGG>TTG	p.W714L	PLB1_uc010ezj.1_Missense_Mutation_p.W703L|PLB1_uc002rmc.2_Missense_Mutation_p.W402L|PLB1_uc002rmd.1_Missense_Mutation_p.W224L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	714	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				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)					CATGGGACCTGGCTGCCATGC	0.463												
SLC3A1	6519	broad.mit.edu	37	2	44547601	44547601	+	Silent	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:44547601C>T	uc002ruc.3	+	10	1959	c.1881C>T	c.(1879-1881)GCC>GCT	p.A627A	PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Silent_p.A349A|SLC3A1_uc002rue.3_Silent_p.A247A	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	627	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CCAATTCTGCCGACAAAGGCA	0.408												
XIRP2	129446	broad.mit.edu	37	2	168102961	168102961	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:168102961A>G	uc002udx.2	+	8	5077	c.5059A>G	c.(5059-5061)ATT>GTT	p.I1687V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I1512V|XIRP2_uc010fpq.2_Missense_Mutation_p.I1465V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1512					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AAAAGGAGATATTAACATGAC	0.343												
NOSTRIN	115677	broad.mit.edu	37	2	169721415	169721415	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:169721415C>T	uc002ueg.2	+	16	1460	c.1456C>T	c.(1456-1458)CAT>TAT	p.H486Y	NOSTRIN_uc002uef.2_Missense_Mutation_p.H543Y|NOSTRIN_uc002uei.2_Missense_Mutation_p.H369Y|NOSTRIN_uc010fpu.2_Missense_Mutation_p.H458Y|NOSTRIN_uc002ueh.2_Missense_Mutation_p.H408Y|NOSTRIN_uc002uej.2_Missense_Mutation_p.H369Y|NOSTRIN_uc002uek.2_Missense_Mutation_p.H170Y	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficker isoform 2	486	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding				0						GAAAAAAGGCCATTTTCCTGC	0.418												
ZNF142	7701	broad.mit.edu	37	2	219509370	219509370	+	Silent	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:219509370G>C	uc002vin.2	-	8	2305	c.1869C>G	c.(1867-1869)CCC>CCG	p.P623P	ZNF142_uc002vil.2_Silent_p.P584P|ZNF142_uc010fvt.2_Silent_p.P460P|ZNF142_uc002vim.2_Silent_p.P460P	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AATCTGGTGGGGGTGTTGGGC	0.637												
SP140	11262	broad.mit.edu	37	2	231103004	231103004	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:231103004C>T	uc002vql.2	+	3	429	c.314C>T	c.(313-315)ACA>ATA	p.T105I	SP140_uc010zma.1_RNA|SP140_uc002vqj.2_Missense_Mutation_p.T105I|SP140_uc002vqk.2_Missense_Mutation_p.T105I|SP140_uc002vqn.2_Missense_Mutation_p.T105I|SP140_uc002vqm.2_Missense_Mutation_p.T105I|SP140_uc010fxl.2_Missense_Mutation_p.T105I	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	105	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGGAGAAGACATTTGGCTGG	0.383												
MTERFD2	130916	broad.mit.edu	37	2	242035736	242035736	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr2:242035736G>T	uc002wan.1	-	3	1403	c.910C>A	c.(910-912)CAA>AAA	p.Q304K	MTERFD2_uc010zoj.1_Missense_Mutation_p.Q87K	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	275										ovary(1)	1		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TCAGGGGTTTGGTACCGTCCC	0.473												
SIRPB1	10326	broad.mit.edu	37	20	1546812	1546812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:1546812G>A	uc010gai.2	-	5	1285	c.1186C>T	c.(1186-1188)CAG>TAG	p.Q396*	SIRPB1_uc002wfk.3_Nonsense_Mutation_p.Q179*	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	396	Cytoplasmic (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						CAGGCCTTCTGTTTCCAGCAG	0.587												
PDYN	5173	broad.mit.edu	37	20	1963678	1963678	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:1963678G>A	uc010gaj.2	-	2	295	c.53C>T	c.(52-54)ACC>ATC	p.T18I	uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.T18I|PDYN_uc010zpt.1_Intron	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	18					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			upper_aerodigestive_tract(1)|ovary(1)	2						GTCCGCTGTGGTGGAGGGGAA	0.562												
IDH3B	3420	broad.mit.edu	37	20	2639420	2639420	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:2639420G>C	uc002wgp.2	-	12	1144	c.1135C>G	c.(1135-1137)CAC>GAC	p.H379D	IDH3B_uc002wgq.2_Intron|IDH3B_uc002wgr.2_Missense_Mutation_p.H227D	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	379					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	GTCTGCAGGTGACCGATGACA	0.562												
PLCB1	23236	broad.mit.edu	37	20	8745967	8745967	+	Silent	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:8745967C>T	uc002wnb.2	+	26	2895	c.2892C>T	c.(2890-2892)GCC>GCT	p.A964A	PLCB1_uc010zrb.1_Silent_p.A863A|PLCB1_uc002wna.2_Silent_p.A964A|PLCB1_uc002wnc.1_Silent_p.A863A|PLCB1_uc002wnd.1_Silent_p.A541A	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	964					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						GAAGGAGAGCCGCTTTGGAAA	0.358												
RBM39	9584	broad.mit.edu	37	20	34297154	34297154	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:34297154T>C	uc002xeb.2	-	13	1561	c.1217A>G	c.(1216-1218)CAG>CGG	p.Q406R	RBM39_uc002xdz.2_Missense_Mutation_p.Q382R|RBM39_uc002xea.2_Missense_Mutation_p.Q249R|RBM39_uc010gfn.2_Missense_Mutation_p.Q249R|RBM39_uc010zvm.1_Missense_Mutation_p.Q378R|RBM39_uc002xeg.2_Missense_Mutation_p.Q384R|RBM39_uc002xec.2_Missense_Mutation_p.Q400R|RBM39_uc002xed.2_Missense_Mutation_p.Q124R|RBM39_uc002xee.2_Missense_Mutation_p.Q249R|RBM39_uc002xef.2_Missense_Mutation_p.Q243R|RBM39_uc010zvn.1_Missense_Mutation_p.Q249R	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	406	Interaction with ESR1 and ESR2 (By similarity).|Interaction with NCOA6 (By similarity).|Interaction with JUN (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ACCTTCAGTCTGCTGGGAAAG	0.313												
TOX2	84969	broad.mit.edu	37	20	42680082	42680082	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:42680082G>A	uc002xlf.3	+	4	592	c.575G>A	c.(574-576)CGG>CAG	p.R192Q	TOX2_uc010ggo.2_Missense_Mutation_p.R183Q|TOX2_uc002xle.3_Missense_Mutation_p.R141Q|TOX2_uc010ggp.2_Missense_Mutation_p.R141Q|TOX2_uc002xlg.2_Missense_Mutation_p.R141Q|TOX2_uc010zwk.1_Missense_Mutation_p.R61Q	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ATGGGCATCCGGAGCAGCATC	0.677												
ZFP64	55734	broad.mit.edu	37	20	50769645	50769645	+	Silent	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:50769645C>T	uc002xwl.2	-	6	1435	c.1086G>A	c.(1084-1086)GAG>GAA	p.E362E	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.E360E|ZFP64_uc002xwn.2_Silent_p.E308E	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	362	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGTGGATACGCTCGTGGATGC	0.602												
OGFR	11054	broad.mit.edu	37	20	61440999	61440999	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:61440999C>T	uc002ydj.2	+	4	417	c.382C>T	c.(382-384)CAC>TAC	p.H128Y	OGFR_uc002ydk.2_Missense_Mutation_p.H111Y|OGFR_uc002ydl.2_Missense_Mutation_p.H76Y	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	128					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					TGAGGACAATCACTCCTACAT	0.617												
KCNQ2	3785	broad.mit.edu	37	20	62044861	62044861	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr20:62044861C>T	uc002yey.1	-	15	1882	c.1705G>A	c.(1705-1707)GAG>AAG	p.E569K	KCNQ2_uc002yez.1_Missense_Mutation_p.E538K|KCNQ2_uc002yfa.1_Missense_Mutation_p.E551K|KCNQ2_uc002yfb.1_Missense_Mutation_p.E541K	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	569	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GAGTACTGCTCGATGACGTCC	0.632												
USP16	10600	broad.mit.edu	37	21	30415748	30415748	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr21:30415748G>C	uc002ymy.2	+	13	1386	c.1184G>C	c.(1183-1185)GGT>GCT	p.G395A	USP16_uc002ymx.2_Missense_Mutation_p.G394A|USP16_uc002ymw.2_Missense_Mutation_p.G395A|USP16_uc011acm.1_Missense_Mutation_p.G380A|USP16_uc011acn.1_Missense_Mutation_p.G61A|USP16_uc011aco.1_Missense_Mutation_p.G85A	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	395					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4						TTTAAGAGTGGTAAGAAAAGT	0.279												
DIP2A	23181	broad.mit.edu	37	21	47976888	47976888	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr21:47976888A>G	uc002zjo.2	+	30	3718	c.3535A>G	c.(3535-3537)ATA>GTA	p.I1179V	DIP2A_uc011afz.1_Missense_Mutation_p.I1175V|DIP2A_uc002zjr.2_Missense_Mutation_p.I146V	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1179					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ATGCCGCTCCATAAAGCTGCA	0.517												
APOL3	80833	broad.mit.edu	37	22	36537683	36537683	+	Silent	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr22:36537683G>A	uc003aot.2	-	3	812	c.774C>T	c.(772-774)ACC>ACT	p.T258T	APOL3_uc003aoq.2_Silent_p.T187T|APOL3_uc003aor.2_Silent_p.T187T|APOL3_uc003aos.2_Silent_p.T187T|APOL3_uc003aou.2_Silent_p.T58T|APOL3_uc003aov.2_Silent_p.T58T	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	258					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0						GGTCAATGCTGGTTGCAGTCA	0.483												
PBRM1	55193	broad.mit.edu	37	3	52621493	52621493	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr3:52621493C>T	uc003des.2	-	19	3011	c.2999G>A	c.(2998-3000)CGA>CAA	p.R1000Q	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R1000Q|PBRM1_uc003der.2_Missense_Mutation_p.R968Q|PBRM1_uc003det.2_Missense_Mutation_p.R1015Q|PBRM1_uc003deu.2_Missense_Mutation_p.R1015Q|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R1000Q|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Missense_Mutation_p.R999Q|PBRM1_uc003dfb.1_Missense_Mutation_p.R912Q|PBRM1_uc003dfa.1_Missense_Mutation_p.R346Q	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1000	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCATTTGGTCGGTAAAACCA	0.368			Mis|N|F|S|D|O		clear cell renal carcinoma|breast							
ERC2	26059	broad.mit.edu	37	3	56468565	56468565	+	Silent	SNP	C	C	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr3:56468565C>A	uc003dhr.1	-	2	727	c.471G>T	c.(469-471)CTG>CTT	p.L157L		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	157	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)		TCTCTCTCTGCAGTTCTTTCA	0.488												
TLR1	7096	broad.mit.edu	37	4	38798807	38798807	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr4:38798807C>T	uc003gtl.2	-	4	1920	c.1646G>A	c.(1645-1647)GGC>GAC	p.G549D		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	549	Extracellular (Potential).|LRRCT.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						ATCAGGCCAGCCCTCTAACAC	0.408												
KIAA1109	84162	broad.mit.edu	37	4	123167363	123167363	+	Silent	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr4:123167363G>A	uc003ieh.2	+	31	5139	c.5094G>A	c.(5092-5094)ACG>ACA	p.T1698T	KIAA1109_uc003iek.2_Silent_p.T317T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1698					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CAATAGGAACGACTAACCAAG	0.328												
FAT4	79633	broad.mit.edu	37	4	126370353	126370353	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr4:126370353G>A	uc003ifj.3	+	9	8182	c.8182G>A	c.(8182-8184)GTT>ATT	p.V2728I	FAT4_uc011cgp.1_Missense_Mutation_p.V1026I|FAT4_uc003ifi.1_Missense_Mutation_p.V206I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2728	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AATTAGAAGCGTTAGACCTTT	0.383												
TRIM2	23321	broad.mit.edu	37	4	154216639	154216639	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr4:154216639C>T	uc003ing.2	+	6	1081	c.880C>T	c.(880-882)CGG>TGG	p.R294W	TRIM2_uc003inh.2_Missense_Mutation_p.R321W	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	294						cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CTTGCACCCGCGGGAGAACGA	0.592												
ADAMTS16	170690	broad.mit.edu	37	5	5232503	5232503	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr5:5232503T>G	uc003jdl.2	+	12	1862	c.1724T>G	c.(1723-1725)GTG>GGG	p.V575G	ADAMTS16_uc003jdk.1_Missense_Mutation_p.V575G|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	575	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GGACAGTGTGTGAAATATGGT	0.507												
C6	729	broad.mit.edu	37	5	41160429	41160429	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr5:41160429G>T	uc003jmk.2	-	11	1709	c.1499C>A	c.(1498-1500)GCA>GAA	p.A500E	C6_uc003jml.1_Missense_Mutation_p.A500E	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	500	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTTGTCACTGCACAGGGGAT	0.512												
SGTB	54557	broad.mit.edu	37	5	64967780	64967780	+	Silent	SNP	T	T	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr5:64967780T>G	uc003jud.2	-	10	985	c.765A>C	c.(763-765)GGA>GGC	p.G255G		NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	255							binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		GGCCCCCAACTCCAGCAGCAG	0.388												
HEXB	3074	broad.mit.edu	37	5	73992920	73992920	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr5:73992920C>T	uc003kdf.3	+	5	775	c.658C>T	c.(658-660)CTT>TTT	p.L220F	HEXB_uc003kdd.2_5'UTR|HEXB_uc003kde.2_Missense_Mutation_p.L220F|HEXB_uc010izh.2_RNA	NM_000521	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B preproprotein	220					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TAAGATTATTCTTAAAACTCT	0.323												
OTP	23440	broad.mit.edu	37	5	76932669	76932669	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr5:76932669C>T	uc003kfg.2	-	2	572	c.424G>A	c.(424-426)GGG>AGG	p.G142R		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	orthopedia homeobox	142	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		TCGGTCAGCCCGATACGCAGT	0.617												
SLC4A9	83697	broad.mit.edu	37	5	139745844	139745844	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr5:139745844T>C	uc003lfm.2	+	14	2115	c.2080T>C	c.(2080-2082)TTC>CTC	p.F694L	SLC4A9_uc003lfj.2_Missense_Mutation_p.F670L|SLC4A9_uc011czg.1_Missense_Mutation_p.F607L|SLC4A9_uc003lfl.2_Missense_Mutation_p.F670L|SLC4A9_uc003lfk.2_Missense_Mutation_p.F656L	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	694	Cytoplasmic (Potential).|Membrane (anion exchange).					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)			ACCCAGAGAGTTCAAGGTGAG	0.547												
BMP6	654	broad.mit.edu	37	6	7862613	7862613	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:7862613C>A	uc003mxu.3	+	4	1264	c.1086C>A	c.(1084-1086)TTC>TTA	p.F362L		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	362					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					TGGTGGCTTTCTTCAAAGTGA	0.607												
GABBR1	2550	broad.mit.edu	37	6	29598366	29598366	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:29598366G>A	uc003nmt.3	-	4	680	c.344C>T	c.(343-345)ACG>ATG	p.T115M	GABBR1_uc003nmp.3_5'Flank|GABBR1_uc003nms.3_5'Flank|GABBR1_uc003nmu.3_Intron|GABBR1_uc011dlr.1_Translation_Start_Site|GABBR1_uc011dls.1_Missense_Mutation_p.T115M	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	115	Extracellular (Potential).|Sushi 2.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.T115M(1)		ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	GTCCCCACCCGTCAGGAAAAC	0.562												
HLA-A	3105	broad.mit.edu	37	6	29912352	29912352	+	Missense_Mutation	SNP	G	G	C	rs45461999		TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:29912352G>C	uc003nol.2	+	5	971	c.971G>C	c.(970-972)GGA>GCA	p.G324A	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Missense_Mutation_p.G203A|HLA-A_uc003nok.2_Missense_Mutation_p.G203A|HLA-A_uc003non.2_Missense_Mutation_p.G324A|HLA-A_uc003noo.2_Missense_Mutation_p.G324A|HLA-A_uc010jrr.2_Intron|HLA-A_uc003nom.2_Missense_Mutation_p.G203A|HLA-A_uc010klp.2_Intron|HLA-A_uc011dmc.1_Missense_Mutation_p.G203A|HLA-A_uc011dmd.1_Missense_Mutation_p.G203A	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	324	Helical; (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						GTGATCACTGGAGCTGTGGTC	0.587									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)		
HLA-DMB	3109	broad.mit.edu	37	6	32906580	32906580	+	Missense_Mutation	SNP	G	G	A	rs12176347		TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:32906580G>A	uc003ocl.1	-	2	451	c.218C>T	c.(217-219)GCG>GTG	p.A73V	HLA-DMB_uc003ocj.1_Missense_Mutation_p.A73V|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Missense_Mutation_p.A73V	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	73	Beta-1.|Lumenal (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						GAGGACATTCGCCAAGCTATT	0.527												
PRPH2	5961	broad.mit.edu	37	6	42672253	42672253	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:42672253C>G	uc003osk.2	-	2	964	c.678G>C	c.(676-678)CAG>CAC	p.Q226H		NM_000322	NP_000313	P23942	PRPH2_HUMAN	peripherin 2	226	Lumenal (Potential).				cell adhesion|visual perception	integral to membrane				ovary(4)|central_nervous_system(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGTTGGTGATCTGATACTGGA	0.582												
PKHD1	5314	broad.mit.edu	37	6	51619630	51619630	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:51619630T>C	uc003pah.1	-	56	9025	c.8749A>G	c.(8749-8751)AAG>GAG	p.K2917E	PKHD1_uc010jzn.1_Missense_Mutation_p.K900E|PKHD1_uc003pai.2_Missense_Mutation_p.K2917E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2917	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TGGTGGCCCTTGACTTCTTTC	0.473												
COL19A1	1310	broad.mit.edu	37	6	70669903	70669903	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:70669903C>A	uc003pfc.1	+	10	1069	c.952C>A	c.(952-954)CAT>AAT	p.H318N	COL19A1_uc010kam.1_Missense_Mutation_p.H214N	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	318	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						AAATGGTTTACATGGTGCTCC	0.308												
MDN1	23195	broad.mit.edu	37	6	90425374	90425374	+	Silent	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:90425374G>A	uc003pnn.1	-	45	6974	c.6858C>T	c.(6856-6858)TTC>TTT	p.F2286F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2286					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAAATACCTGAAATTGGGAT	0.403												
EPHA7	2045	broad.mit.edu	37	6	93969191	93969191	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:93969191A>T	uc003poe.2	-	10	2046	c.1805T>A	c.(1804-1806)TTT>TAT	p.F602Y	EPHA7_uc003pof.2_Missense_Mutation_p.F597Y|EPHA7_uc011eac.1_Intron	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	602	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGTGCCTGGAAATTTAACTGT	0.423												
LAMA2	3908	broad.mit.edu	37	6	129663595	129663595	+	Silent	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:129663595G>A	uc003qbn.2	+	30	4524	c.4419G>A	c.(4417-4419)CTG>CTA	p.L1473L	LAMA2_uc003qbo.2_Silent_p.L1473L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1473	Laminin EGF-like 16.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGCCCTCTGATTTCTTCCA	0.418												
SYNE1	23345	broad.mit.edu	37	6	152765653	152765653	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:152765653A>T	uc010kiw.2	-	30	4332	c.3730T>A	c.(3730-3732)TCT>ACT	p.S1244T	SYNE1_uc003qot.3_Missense_Mutation_p.S1251T|SYNE1_uc003qou.3_Missense_Mutation_p.S1244T|SYNE1_uc010kjb.1_Missense_Mutation_p.S1227T|SYNE1_uc003qow.2_Missense_Mutation_p.S539T|SYNE1_uc003qox.1_Missense_Mutation_p.S760T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1244	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)		TCTTCGAGAGAATTTTTGACT	0.343										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152841662	152841662	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:152841662G>A	uc010kiw.2	-	6	843	c.241C>T	c.(241-243)CGC>TGC	p.R81C	SYNE1_uc003qot.3_Missense_Mutation_p.R81C|SYNE1_uc003qou.3_Missense_Mutation_p.R81C|SYNE1_uc010kjb.1_Missense_Mutation_p.R81C|SYNE1_uc003qpa.1_Missense_Mutation_p.R81C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	81	Actin-binding.|Cytoplasmic (Potential).|CH 1.				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)		TTCATCCGGCGTCCTTGTTCA	0.388										HNSCC(10;0.0054)		
IPCEF1	26034	broad.mit.edu	37	6	154520945	154520945	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:154520945T>C	uc003qpx.2	-	10	920	c.764A>G	c.(763-765)CAC>CGC	p.H255R	OPRM1_uc003qpt.1_Intron|IPCEF1_uc003qpv.2_Missense_Mutation_p.H126R|IPCEF1_uc003qpw.2_Missense_Mutation_p.H256R|IPCEF1_uc010kjh.2_Missense_Mutation_p.H256R	NM_015553	NP_056368	Q8WWN9	ICEF1_HUMAN	phosphoinositide-binding protein PIP3-E isoform	255	Ser-rich.				response to oxidative stress	cytoplasm|plasma membrane	oxygen transporter activity|peroxidase activity				0						CAGGGCCTTGTGGATGCCTGC	0.428												
TIAM2	26230	broad.mit.edu	37	6	155458677	155458677	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:155458677G>A	uc003qqb.2	+	7	2834	c.1561G>A	c.(1561-1563)GTG>ATG	p.V521M	TIAM2_uc003qqe.2_Missense_Mutation_p.V521M|TIAM2_uc010kjj.2_Missense_Mutation_p.V54M	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	521	PH 1.				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)		CCTGGTCACTGTGCAGAAGGA	0.562												
LPA	4018	broad.mit.edu	37	6	160952872	160952872	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:160952872T>G	uc003qtl.2	-	40	6132	c.6012A>C	c.(6010-6012)TTA>TTC	p.L2004F		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4512	Peptidase S1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGACTCCTTGTAAAATGTATT	0.468												
PLG	5340	broad.mit.edu	37	6	161173982	161173982	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr6:161173982A>C	uc003qtm.3	+	19	2385	c.2322A>C	c.(2320-2322)TTA>TTC	p.L774F		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	774	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AATACATTTTACAAGGAGTCA	0.478												
SDK1	221935	broad.mit.edu	37	7	4304904	4304904	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:4304904A>T	uc003smx.2	+	45	6669	c.6530A>T	c.(6529-6531)GAG>GTG	p.E2177V	SDK1_uc010kso.2_Missense_Mutation_p.E1433V|SDK1_uc003smy.2_Intron|SDK1_uc003smz.2_Missense_Mutation_p.E237V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2177	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCGGGCTCCGAGGCGGGCGCG	0.721												
HECW1	23072	broad.mit.edu	37	7	43547663	43547663	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:43547663G>C	uc003tid.1	+	23	4404	c.3799G>C	c.(3799-3801)GTG>CTG	p.V1267L	HECW1_uc011kbi.1_Missense_Mutation_p.V1233L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1267					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CTTCAATCAGGTGATGGCCTA	0.532												
ADCY1	107	broad.mit.edu	37	7	45743282	45743282	+	Silent	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:45743282C>T	uc003tne.3	+	16	2673	c.2655C>T	c.(2653-2655)GAC>GAT	p.D885D		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	885	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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCGAGCTGGACGGCAACAACA	0.562												
PKD1L1	168507	broad.mit.edu	37	7	47947794	47947794	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:47947794C>G	uc003tny.1	-	9	1282	c.1282G>C	c.(1282-1284)GTG>CTG	p.V428L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	428	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CCAAGCTCCACTTCGGTTCCA	0.418												
CASD1	64921	broad.mit.edu	37	7	94181701	94181701	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:94181701G>C	uc003uni.3	+	16	2223	c.1996G>C	c.(1996-1998)GAG>CAG	p.E666Q	CASD1_uc003unj.3_Missense_Mutation_p.E666Q	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	666						integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAACAAAGCAGAGTGCAATGA	0.328												
SLC26A3	1811	broad.mit.edu	37	7	107434890	107434890	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:107434890T>A	uc003ver.2	-	2	276	c.65A>T	c.(64-66)GAG>GTG	p.E22V	SLC26A3_uc003ves.2_Missense_Mutation_p.R4W	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	22					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						ATGATTTTCCTCAAAAGCATT	0.363												
PPP1R3A	5506	broad.mit.edu	37	7	113558764	113558764	+	Silent	SNP	C	C	T	rs111896635	byFrequency	TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:113558764C>T	uc010ljy.1	-	1	319	c.288G>A	c.(286-288)ACG>ACA	p.T96T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	96					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						GGAAAATGTCCGTCCCTAAGT	0.383												
MET	4233	broad.mit.edu	37	7	116435940	116435940	+	Splice_Site	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:116435940G>C	uc003vij.2	+	21	4123	c.3936_splice	c.e21-1	p.L1312_splice	MET_uc010lkh.2_Splice_Site_p.L1330_splice|MET_uc011knj.1_Splice_Site_p.L882_splice	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTTGGAACAGATATGAAGTA	0.423			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)			
DGKI	9162	broad.mit.edu	37	7	137092659	137092659	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr7:137092659G>A	uc003vtt.2	-	31	2907	c.2906C>T	c.(2905-2907)ACC>ATC	p.T969I	DGKI_uc003vtu.2_Missense_Mutation_p.T638I	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	969	ANK 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						CCCGTTGCCGGTTTTAGCTGC	0.433												
EFHA2	286097	broad.mit.edu	37	8	16973996	16973996	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr8:16973996T>C	uc003wxd.2	+	13	1453	c.1411T>C	c.(1411-1413)TCA>CCA	p.S471P		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	471	EF-hand 3.					integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		ACTCAAATTTTCACCACATTT	0.284												
PREX2	80243	broad.mit.edu	37	8	69050688	69050688	+	Silent	SNP	A	A	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr8:69050688A>C	uc003xxv.1	+	33	4050	c.4023A>C	c.(4021-4023)GCA>GCC	p.A1341A		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1341					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						CACTGGTTGCACTATTTGATT	0.259												
PSKH2	85481	broad.mit.edu	37	8	87060893	87060893	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr8:87060893C>G	uc011lfy.1	-	3	956	c.956G>C	c.(955-957)TGG>TCG	p.W319S		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	319	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			GGTGATCACCCAGGGATGGTC	0.552												
PKHD1L1	93035	broad.mit.edu	37	8	110478930	110478930	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr8:110478930G>A	uc003yne.2	+	50	8641	c.8537G>A	c.(8536-8538)CGT>CAT	p.R2846H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2846	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCTTTCACCGTTTAGCGTTC	0.438										HNSCC(38;0.096)		
TOPORS	10210	broad.mit.edu	37	9	32541411	32541411	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr9:32541411G>C	uc003zrb.2	-	3	3279	c.3112C>G	c.(3112-3114)CTT>GTT	p.L1038V	TOPORS_uc003zrc.2_Missense_Mutation_p.L971V	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	1038					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)		TCTCTACCAAGACATACTGAC	0.393												
ZNF462	58499	broad.mit.edu	37	9	109689843	109689843	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr9:109689843G>C	uc004bcz.2	+	3	3939	c.3650G>C	c.(3649-3651)CGA>CCA	p.R1217P	ZNF462_uc010mto.2_Missense_Mutation_p.R1065P|ZNF462_uc004bda.2_Missense_Mutation_p.R1065P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1217					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AAGAAGCACCGAGACTTCAAG	0.527												
PBX3	5090	broad.mit.edu	37	9	128725303	128725303	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr9:128725303C>T	uc004bqb.2	+	8	1251	c.1135C>T	c.(1135-1137)CGT>TGT	p.R379C	PBX3_uc004bqc.2_Missense_Mutation_p.R198C|PBX3_uc004bqd.2_Missense_Mutation_p.P160L|PBX3_uc011lzw.1_Missense_Mutation_p.R304C|PBX3_uc011lzx.1_Missense_Mutation_p.P252L|PBX3_uc004bqe.2_Missense_Mutation_p.R287C	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	379					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						GGATACCCTCCGTCATGTTAT	0.398												
WDR34	89891	broad.mit.edu	37	9	131396198	131396198	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr9:131396198G>A	uc004bvq.1	-	9	1560	c.1436C>T	c.(1435-1437)ACC>ATC	p.T479I	WDR34_uc004bvs.1_Missense_Mutation_p.T470I|WDR34_uc004bvr.1_Missense_Mutation_p.T451I	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	479						cytoplasm				central_nervous_system(2)|skin(1)	3						TTCATCCTGGGTTTGCTTGAT	0.527												
PRDX4	10549	broad.mit.edu	37	X	23697385	23697385	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chrX:23697385G>A	uc004dam.2	+	4	623	c.580G>A	c.(580-582)GAC>AAC	p.D194N		NM_006406	NP_006397	Q13162	PRDX4_HUMAN	peroxiredoxin 4	194	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			upper_aerodigestive_tract(1)	1						ATACCTAGAGGACTCAGGCCA	0.393												
MED12	9968	broad.mit.edu	37	X	70344686	70344686	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chrX:70344686G>C	uc004dyy.2	+	14	2246	c.2047G>C	c.(2047-2049)GAT>CAT	p.D683H	MED12_uc011mpq.1_Missense_Mutation_p.D683H|MED12_uc004dyz.2_Missense_Mutation_p.D683H|MED12_uc004dza.2_Missense_Mutation_p.D530H	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	683					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GGAGAAGCCTGATTTCTCAGT	0.468												
ATP7A	538	broad.mit.edu	37	X	77243797	77243797	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chrX:77243797G>C	uc004ecx.3	+	3	340	c.180G>C	c.(178-180)AAG>AAC	p.K60N	ATP7A_uc004ecw.2_Missense_Mutation_p.K60N	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	60	HMA 1.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						AGACTCCAAAGACCCTACAGG	0.378												
DACH2	117154	broad.mit.edu	37	X	86069699	86069699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chrX:86069699C>T	uc004eew.2	+	10	1716	c.1546C>T	c.(1546-1548)CAA>TAA	p.Q516*	DACH2_uc004eex.2_Nonsense_Mutation_p.Q503*|DACH2_uc010nmq.2_Nonsense_Mutation_p.Q382*|DACH2_uc011mra.1_Nonsense_Mutation_p.Q349*|DACH2_uc010nmr.2_Nonsense_Mutation_p.Q297*|DACH2_uc004eey.2_Nonsense_Mutation_p.Q209*|DACH2_uc004eez.2_Nonsense_Mutation_p.Q199*	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	516	Potential.|DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						AGCTACTATGCAAAAGCGCCT	0.398												
KIAA0754	643314	broad.mit.edu	37	1	39878360	39878360	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr1:39878360delT	uc009vvt.1	+	1	3185	c.2423delT	c.(2422-2424)ATTfs	p.I808fs	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	672											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			TTCCTAAATATTTTTCCAGAG	0.463												
PITPNM1	9600	broad.mit.edu	37	11	67266131	67266139	+	In_Frame_Del	DEL	GGCCCAAGG	GGCCCAAGG	-			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr11:67266130_67266138TGGCCCAAGG>T	uc001olx.3	-	8	1602_1610	c.1413_1421CCTTGGGCCA>A	c.(1411-1422)gccttgggccac>gcAc	p.LGH472del	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_In_Frame_Del_p.LGH472del|PITPNM1_uc001olz.3_In_Frame_Del_p.LGH472del	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	472					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CAGCGCCACGTGGCCCAAGGCCTCAGGGA	0.660												
KCNA1	3736	broad.mit.edu	37	12	5021353	5021368	+	Frame_Shift_Del	DEL	GCACCGAGATAGCTGA	GCACCGAGATAGCTGA	-			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:5021352_5021367GGCACCGAGATAGCTGA>G	uc001qnh.3	+	1	1913_1928	c.808_823GGCACCGAGATAGCTGA>G	c.(808-825)ggcaccgagatagctgagfs	p.G270fs	KCNA1_uc021qts.1_Frame_Shift_Del_p.G270fs	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	270					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.T271T(2)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATCACGCTGGGCACCGAGATAGCTGAGCAGGAAGG	0.532												
WSCD2	9671	broad.mit.edu	37	12	108600093	108600094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4438-01A-01D-1158-08	TCGA-CG-4438-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0865b5f7-872c-4a12-9c56-920b1a0e9507	cd292dea-13b3-44d2-a0bd-dc31297be244	g.chr12:108600092_108600093G>GT	uc001tms.3	+	2	1153_1154	c.409_410G>GT	c.(409-411)gacfs	p.D137fs	WSCD2_uc001tmt.3_Frame_Shift_Ins_p.D137fs	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	137	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTACCTGGATGACACCCAGAGT	0.535