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
UBR4	23352	broad.mit.edu	37	1	19454159	19454159	+	Silent	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:19454159G>A	uc001bbi.2	-	63	9190	c.9186C>T	c.(9184-9186)TTC>TTT	p.F3062F	UBR4_uc001bbk.1_Silent_p.F709F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3062					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGCGGGACATGAAGACACTCA	0.488000												
ARID1A	8289	broad.mit.edu	37	1	27101252	27101252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:27101252C>T	uc001bmv.1	+	18	4907	c.4534C>T	c.(4534-4536)CAG>TAG	p.Q1512*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1511*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q1129*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q358*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1512					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCCAACAGGCAGAGCACGGG	0.577000			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
SFRS4	6429	broad.mit.edu	37	1	29475721	29475721	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:29475721C>T	uc001bro.2	-	6	1059	c.686G>A	c.(685-687)CGG>CAG	p.R229Q	SFRS4_uc010ofy.1_Silent_p.P127P	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	229	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		gctcTTGCTCCGGGAGCGGGA	0.438000												
NCDN	23154	broad.mit.edu	37	1	36023804	36023804	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:36023804G>A	uc001bza.2	+	2	140	c.13G>A	c.(13-15)GAC>AAC	p.D5N	KIAA0319L_uc001byx.2_5'Flank|KIAA0319L_uc010ohw.1_5'Flank|KIAA0319L_uc001byz.2_5'Flank|KIAA0319L_uc010ohx.1_5'Flank|NCDN_uc001bzb.2_Missense_Mutation_p.D5N|NCDN_uc001bzc.2_Intron	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	5					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTCGTGTTGTGACCTGGCTGC	0.567000												
NT5C1A	84618	broad.mit.edu	37	1	40131295	40131295	+	Missense_Mutation	SNP	G	G	A	rs144180251		TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:40131295G>A	uc001cdq.1	-	3	331	c.331C>T	c.(331-333)CGG>TGG	p.R111W		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	111					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TACAGCTCCCGCAGCCGCCTG	0.557000												
SLC6A17	388662	broad.mit.edu	37	1	110737326	110737326	+	Silent	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:110737326C>T	uc009wfq.2	+	9	1886	c.1425C>T	c.(1423-1425)ATC>ATT	p.I475I	SLC6A17_uc001dze.1_Silent_p.I73I	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	475	Helical; Name=8; (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCAGCATGATCGGGACCATGG	0.592000												
IGSF3	3321	broad.mit.edu	37	1	117150568	117150568	+	Silent	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:117150568G>A	uc001egr.1	-	5	1923	c.1218C>T	c.(1216-1218)CCC>CCT	p.P406P	IGSF3_uc001egq.1_Silent_p.P406P|IGSF3_uc001egs.1_Silent_p.P79P	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	406	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACTTACTGAGGGGGAGGACTA	0.517000												
ATP8B2	57198	broad.mit.edu	37	1	154316667	154316667	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:154316667G>C	uc001fex.2	+	19	2071	c.2071G>C	c.(2071-2073)GAG>CAG	p.E691Q		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	677	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGGGTTCCAGAGACCATTGC	0.547000												
PEX19	5824	broad.mit.edu	37	1	160252825	160252825	+	Silent	SNP	C	C	T	rs150928521	byFrequency	TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:160252825C>T	uc001fvs.2	-	3	282	c.255G>A	c.(253-255)GCG>GCA	p.A85A	DCAF8_uc010pjc.1_5'UTR|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_5'UTR	NM_002857	NP_002848	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19 isoform a	85	Necessary for PEX19 function on peroxisome biogenesis.				peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding				0	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTCGAACTCCGCAGTGGCTT	0.552000												
HMCN1	83872	broad.mit.edu	37	1	186157143	186157143	+	Splice_Site	SNP	T	T	C			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:186157143T>C	uc001grq.1	+	106	16770	c.16541_splice	c.e106+2	p.G5514_splice	HMCN1_uc001grs.1_Splice_Site_p.G966_splice	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TGTTTCAGGGTATGTCTTGCC	0.478000												
ACTN2	88	broad.mit.edu	37	1	236914816	236914816	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr1:236914816C>T	uc001hyf.2	+	15	1907	c.1703C>T	c.(1702-1704)GCG>GTG	p.A568V	ACTN2_uc001hyg.2_Missense_Mutation_p.A360V|ACTN2_uc009xgi.1_Missense_Mutation_p.A568V|ACTN2_uc010pxu.1_Missense_Mutation_p.A257V|ACTN2_uc001hyh.2_Missense_Mutation_p.A256V	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	568	Spectrin 3.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTGCCCGAGGCGGACGGAGAG	0.522000												
MUC5B	727897	broad.mit.edu	37	11	1267649	1267649	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr11:1267649C>T	uc009ycr.1	+	49	11414	c.11288C>T	c.(11287-11289)ACG>ATG	p.T3763M	MUC5B_uc001ltb.2_Missense_Mutation_p.T3183M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3180	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	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)		ACCGGATCCACGGCCACCGCC	0.687000												
CTR9	9646	broad.mit.edu	37	11	10777233	10777233	+	Silent	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr11:10777233G>A	uc001mja.2	+	4	542	c.393G>A	c.(391-393)TTG>TTA	p.L131L		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	131	TPR 2.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGAACCATTTGTTGGGAAGAG	0.383000												
ABCC8	6833	broad.mit.edu	37	11	17415246	17415246	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr11:17415246C>T	uc001mnc.2	-	38	4732	c.4606G>A	c.(4606-4608)GCG>ACG	p.A1536T		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	1536	Cytoplasmic (By similarity).|ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCCTTACCGCGATGGTGACC	0.622000												
PHOX2A	401	broad.mit.edu	37	11	71952253	71952253	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr11:71952253C>T	uc001osh.3	-	2	470	c.298G>A	c.(298-300)GCG>ACG	p.A100T		NM_005169	NP_005160	O14813	PHX2A_HUMAN	paired-like homeobox 2a	100	Homeobox.				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TTGAGCTGCGCGCTGGTGAAC	0.637000												
NINJ2	4815	broad.mit.edu	37	12	675332	675332	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:675332C>T	uc001qil.2	-	2	275	c.184G>A	c.(184-186)GAC>AAC	p.D62N	NINJ2_uc010sdr.1_5'UTR|NINJ2_uc010sds.1_Missense_Mutation_p.D62N	NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	ninjurin 2	16	Extracellular (Potential).				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				ovary(2)	2	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CTCCTGGGGTCGGAGCTTCCA	0.512000												
PRB3	5544	broad.mit.edu	37	12	11420936	11420936	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:11420936G>A	uc001qzs.2	-	3	285	c.247C>T	c.(247-249)CCA>TCA	p.P83S	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	83	2.|10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCTCCTTGTGGGGGTGGTCCT	0.627000												
SP7	121340	broad.mit.edu	37	12	53722327	53722327	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:53722327C>T	uc001sct.2	-	2	1006	c.899G>A	c.(898-900)GGC>GAC	p.G300D	SP7_uc001scu.2_Missense_Mutation_p.G282D|SP7_uc001scv.2_Missense_Mutation_p.G300D	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	300	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTGCCGCAGCCAGGGATGTG	0.647000												
MMP19	4327	broad.mit.edu	37	12	56231058	56231058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:56231058G>T	uc001sib.2	-	9	1410	c.1289C>A	c.(1288-1290)TCG>TAG	p.S430*	MMP19_uc001sia.2_Nonsense_Mutation_p.S144*|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_3'UTR	NM_002429	NP_002420	Q99542	MMP19_HUMAN	matrix metalloproteinase 19 isoform rasi-1	430	Hemopexin-like 4.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)	1						CATAGCAGCCGAGGGCTGGTT	0.557000												
SUOX	6821	broad.mit.edu	37	12	56397880	56397880	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:56397880G>T	uc001six.2	+	6	1033	c.707G>T	c.(706-708)GGA>GTA	p.G236V	SUOX_uc001siy.2_Missense_Mutation_p.G236V|SUOX_uc001siz.2_Missense_Mutation_p.G236V|SUOX_uc001sja.2_Missense_Mutation_p.G236V	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	236	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CACGTAGTAGGAGCACCTGGG	0.532000												
MYF5	4617	broad.mit.edu	37	12	81111120	81111120	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:81111120G>A	uc001szg.2	+	1	413	c.278G>A	c.(277-279)CGG>CAG	p.R93Q		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	93	Basic motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						ATGCGCGAGCGGAGGCGCCTG	0.607000												
CIT	11113	broad.mit.edu	37	12	120190007	120190007	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr12:120190007G>C	uc001txi.1	-	22	2679	c.2626C>G	c.(2626-2628)CTC>GTC	p.L876V	CIT_uc001txh.1_Missense_Mutation_p.L410V|CIT_uc001txj.1_Missense_Mutation_p.L918V	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	876	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGCTCTGTGAGCTGGCGCTTG	0.517000												
FLT1	2321	broad.mit.edu	37	13	28903858	28903858	+	Silent	SNP	G	G	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr13:28903858G>T	uc001usb.3	-	19	2886	c.2601C>A	c.(2599-2601)GCC>GCA	p.A867A	FLT1_uc010aaq.2_5'UTR|FLT1_uc001usa.3_Silent_p.A85A	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	867	Cytoplasmic (Potential).|Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGCTGGCCGTGGCCCCCTCTG	0.567000												
FREM2	341640	broad.mit.edu	37	13	39262281	39262281	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr13:39262281G>A	uc001uwv.2	+	1	1109	c.800G>A	c.(799-801)CGC>CAC	p.R267H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	267	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGCGCTATCGCCACACAGCC	0.632000												
NUFIP1	26747	broad.mit.edu	37	13	45517811	45517811	+	Splice_Site	SNP	T	T	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr13:45517811T>A	uc001uzp.2	-	9	1181	c.1139_splice	c.e9-1	p.E380_splice		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein						box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding				0		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TGGGAGTTTCTAAGTGTGATG	0.333000												
OR4K1	79544	broad.mit.edu	37	14	20404085	20404085	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr14:20404085T>C	uc001vwj.1	+	1	260	c.260T>C	c.(259-261)ATT>ACT	p.I87T		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GACTTTTTTATTGAGCGCAAG	0.408000												
MYH6	4624	broad.mit.edu	37	14	23851751	23851751	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr14:23851751G>T	uc001wjv.2	-	38	5749	c.5682C>A	c.(5680-5682)AAC>AAA	p.N1894K		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1894	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACTTGGACAGGTTGGTGTTGG	0.592000												
RPL10L	140801	broad.mit.edu	37	14	47120763	47120763	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr14:47120763C>A	uc001wwg.2	-	1	266	c.177G>T	c.(175-177)CAG>CAT	p.Q59H		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	59					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						CAGAAGACAGCTGCTCATATT	0.512000												
BCL11B	64919	broad.mit.edu	37	14	99723808	99723808	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr14:99723808C>A	uc001yga.2	-	2	694	c.427G>T	c.(427-429)GGG>TGG	p.G143W	BCL11B_uc001ygb.2_Missense_Mutation_p.G143C	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	143						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CATCCCATACCTGCAATGTTC	0.622000			T	TLX3	T-ALL							
AHNAK2	113146	broad.mit.edu	37	14	105413048	105413048	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr14:105413048G>A	uc010axc.1	-	7	8860	c.8740C>T	c.(8740-8742)CCC>TCC	p.P2914S	AHNAK2_uc001ypx.2_Missense_Mutation_p.P2814S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2914						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTATCTGGGGGCCCTTGAGA	0.647000												
PLK1	5347	broad.mit.edu	37	16	23691501	23691501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr16:23691501C>T	uc002dlz.1	+	2	558	c.505C>T	c.(505-507)CGA>TGA	p.R169*		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	169	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		GTACCTGCACCGAAACCGAGT	0.532000												
ZNF785	146540	broad.mit.edu	37	16	30594148	30594148	+	Silent	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr16:30594148G>A	uc002dyw.1	-	3	1029	c.951C>T	c.(949-951)TGC>TGT	p.C317C	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Silent_p.C302C|ZNF785_uc010vez.1_Silent_p.C282C	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	317	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGCGGCGGCCGCAGTCAGGAC	0.642000												
ZNF423	23090	broad.mit.edu	37	16	49669967	49669967	+	Silent	SNP	C	C	T	rs145829157		TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr16:49669967C>T	uc002efs.2	-	5	3394	c.3096G>A	c.(3094-3096)ACG>ACA	p.T1032T	ZNF423_uc010vgn.1_Silent_p.T915T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1032	C2H2-type 24.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TGAGCTCAAGCGTGGAAGTGA	0.597000												
POLR2C	5432	broad.mit.edu	37	16	57503165	57503165	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr16:57503165C>T	uc002elt.1	+	5	433	c.347C>T	c.(346-348)ACG>ATG	p.T116M	POLR2C_uc010vhq.1_Missense_Mutation_p.T116M	NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	116					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0						CGACATGTCACGTCTCGAGAC	0.577000												
SETD6	79918	broad.mit.edu	37	16	58550528	58550528	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr16:58550528G>A	uc002ens.2	+	4	682	c.623G>A	c.(622-624)CGC>CAC	p.R208H	SETD6_uc010cdl.2_Missense_Mutation_p.R208H|SETD6_uc002enr.2_Missense_Mutation_p.R184H|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Missense_Mutation_p.R132H	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	SET domain containing 6 isoform a	208	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			ovary(1)	1						CTCAGGGTTCGCTCCCTAGAA	0.572000												
CDH16	1014	broad.mit.edu	37	16	66948198	66948198	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr16:66948198A>G	uc002eql.2	-	7	774	c.701T>C	c.(700-702)ATA>ACA	p.I234T	CDH16_uc010cdy.2_Missense_Mutation_p.I234T|CDH16_uc002eqm.2_Missense_Mutation_p.I137T	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	234	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGTGCTCTCTATGATGGAGAC	0.587000												
WDR81	124997	broad.mit.edu	37	17	1635975	1635975	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr17:1635975C>T	uc002fti.2	+	6	919	c.658C>T	c.(658-660)CCT>TCT	p.P220S	WDR81_uc002fth.2_Missense_Mutation_p.P396S|WDR81_uc010vqp.1_Missense_Mutation_p.P244S|WDR81_uc002ftj.2_Missense_Mutation_p.P1447S|WDR81_uc010vqq.1_Missense_Mutation_p.P78S	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN	WD repeat domain 81 isoform 4	220										skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGCTGGACCCTGCGGGCCG	0.692000												
CHRNE	1145	broad.mit.edu	37	17	4805383	4805383	+	Splice_Site	SNP	C	C	G			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr17:4805383C>G	uc002fzk.1	-	5	356	c.345_splice	c.e5-1	p.N115_splice	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon						muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						GCCATCAATACTGTGGGCTCG	0.647000												
NLRP1	22861	broad.mit.edu	37	17	5442796	5442796	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr17:5442796C>T	uc002gci.2	-	7	3364	c.2809G>A	c.(2809-2811)GTT>ATT	p.V937I	NLRP1_uc002gcg.1_Missense_Mutation_p.V937I|NLRP1_uc002gck.2_Missense_Mutation_p.V937I|NLRP1_uc002gcj.2_Missense_Mutation_p.V937I|NLRP1_uc002gcl.2_Missense_Mutation_p.V937I|NLRP1_uc002gch.3_Missense_Mutation_p.V937I|NLRP1_uc010clh.2_Missense_Mutation_p.V937I	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	937	LRR 5.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				CGCACGCCAACGTCATCCAGG	0.622000												
MRM1	79922	broad.mit.edu	37	17	34958746	34958746	+	Silent	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr17:34958746C>T	uc002hne.2	+	1	722	c.507C>T	c.(505-507)CTC>CTT	p.L169L	MRM1_uc002hnf.2_Intron	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	169					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CACACTTCCTCGGAGTGGATA	0.602000												
DNAJC7	7266	broad.mit.edu	37	17	40140786	40140786	+	Silent	SNP	A	A	G			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr17:40140786A>G	uc002hyo.2	-	8	1119	c.882T>C	c.(880-882)GCT>GCC	p.A294A	DNAJC7_uc010cxu.2_Silent_p.A238A|DNAJC7_uc010cxv.2_Silent_p.A238A|DNAJC7_uc010wgb.1_Silent_p.A238A|DNAJC7_uc010wgc.1_Silent_p.A152A|DNAJC7_uc002hyp.2_Silent_p.A238A|DNAJC7_uc010cxw.2_RNA	NM_003315	NP_003306	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	294	TPR 8.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			ovary(1)	1		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				AGTAGAGTTTAGCATTTGTTT	0.383000												
STAT3	6774	broad.mit.edu	37	17	40475070	40475070	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr17:40475070T>G	uc002hzl.1	-	20	2080	c.1840A>C	c.(1840-1842)AGC>CGC	p.S614R	STAT3_uc002hzk.1_Missense_Mutation_p.S614R|STAT3_uc002hzm.1_Missense_Mutation_p.S614R|STAT3_uc010wgh.1_Missense_Mutation_p.S516R|STAT3_uc002hzn.1_Missense_Mutation_p.S614R	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	614	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCTTCTTTGCTGCTTTCACTG	0.572000									Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CDH7	1005	broad.mit.edu	37	18	63477064	63477064	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr18:63477064G>A	uc002ljz.2	+	3	660	c.335G>A	c.(334-336)CGT>CAT	p.R112H	CDH7_uc002lka.2_Missense_Mutation_p.R112H|CDH7_uc002lkb.2_Missense_Mutation_p.R112H	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	112	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				AGACTGGATCGTGAGGAGCAG	0.498000												
MCOLN1	57192	broad.mit.edu	37	19	7593841	7593841	+	Silent	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr19:7593841C>T	uc002mgo.2	+	9	1244	c.1119C>T	c.(1117-1119)ATC>ATT	p.I373I	MCOLN1_uc002mgp.2_Silent_p.I338I	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	373					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1						TCATGAAGATCGGCATCGAGG	0.627000												
GRIN2D	2906	broad.mit.edu	37	19	48908092	48908092	+	Silent	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr19:48908092C>T	uc002pjc.3	+	3	655	c.567C>T	c.(565-567)GCC>GCT	p.A189A		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	189	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCTTTGTAGCCGTGACCACTC	0.617000												
NLRP4	147945	broad.mit.edu	37	19	56369488	56369488	+	Silent	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr19:56369488C>T	uc002qmd.3	+	3	1151	c.729C>T	c.(727-729)CCC>CCT	p.P243P	NLRP4_uc002qmf.2_Silent_p.P168P|NLRP4_uc010etf.2_Silent_p.P74P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	243	NACHT.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAACGAACCCGATTCGGATC	0.567000												
BFSP1	631	broad.mit.edu	37	20	17475310	17475310	+	Silent	SNP	C	C	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr20:17475310C>A	uc002wpo.2	-	8	1446	c.1407G>T	c.(1405-1407)CGG>CGT	p.R469R	BFSP1_uc002wpp.2_Silent_p.R344R|BFSP1_uc010zrn.1_Silent_p.R330R|BFSP1_uc010zro.1_Silent_p.R330R	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	469	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1						CCAGCACGTGCCGCTCTTTGG	0.517000												
YWHAB	7529	broad.mit.edu	37	20	43530312	43530312	+	Silent	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr20:43530312C>T	uc002xmt.2	+	3	420	c.138C>T	c.(136-138)CTC>CTT	p.L46L	YWHAB_uc002xmu.2_Silent_p.L46L	NM_003404	NP_003395	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan	46					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			kidney(2)|ovary(1)|breast(1)	4		Myeloproliferative disorder(115;0.0122)				GAAATCTGCTCTCTGTTGCCT	0.522000												
CLTCL1	8218	broad.mit.edu	37	22	19222200	19222200	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr22:19222200G>T	uc002zpb.2	-	7	1074	c.999C>A	c.(997-999)AAC>AAA	p.N333K	CLTCL1_uc011agv.1_Missense_Mutation_p.N333K|CLTCL1_uc011agw.1_Missense_Mutation_p.N333K	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	333	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					AATTCACAATGTTATCTTCCT	0.498000			T	?	ALCL							
MYO18B	84700	broad.mit.edu	37	22	26222459	26222459	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr22:26222459A>T	uc003abz.1	+	14	3029	c.2779A>T	c.(2779-2781)ATC>TTC	p.I927F	MYO18B_uc003aca.1_Missense_Mutation_p.I808F|MYO18B_uc010guy.1_Missense_Mutation_p.I808F|MYO18B_uc010guz.1_Missense_Mutation_p.I808F|MYO18B_uc011aka.1_Missense_Mutation_p.I81F|MYO18B_uc011akb.1_Missense_Mutation_p.I440F	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	927	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						GGTCTCACTCATCAACAGGTA	0.507000												
LRRN1	57633	broad.mit.edu	37	3	3887403	3887403	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr3:3887403C>T	uc003bpt.3	+	2	1839	c.1078C>T	c.(1078-1080)CTC>TTC	p.L360F	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	360	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGTCGAATCCCTCCCCAATCT	0.478000												
CSPG5	10675	broad.mit.edu	37	3	47610613	47610613	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr3:47610613G>A	uc003crp.3	-	4	1663	c.1487C>T	c.(1486-1488)ACC>ATC	p.T496I	CSPG5_uc003crn.2_Intron|CSPG5_uc003cro.3_Intron|CSPG5_uc011bbb.1_Missense_Mutation_p.T358I	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	496	Cytoplasmic (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGGGAGGAGGTACGGGGAGT	0.512000												
KALRN	8997	broad.mit.edu	37	3	124174132	124174132	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr3:124174132C>G	uc003ehg.2	+	22	3782	c.3655C>G	c.(3655-3657)CAC>GAC	p.H1219D	KALRN_uc010hrv.1_Missense_Mutation_p.H1210D|KALRN_uc003ehf.1_Missense_Mutation_p.H1219D|KALRN_uc011bjy.1_Missense_Mutation_p.H1210D|KALRN_uc003ehh.1_Missense_Mutation_p.H565D	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1219	Spectrin 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGTGGACAAGCACTACAGAGA	0.512000												
ALDH1L1	10840	broad.mit.edu	37	3	125826018	125826018	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr3:125826018C>T	uc003eim.1	-	21	2609	c.2419G>A	c.(2419-2421)GGG>AGG	p.G807R	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.G706R|ALDH1L1_uc003ein.1_Missense_Mutation_p.G342R	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	807	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ATGACAGGCCCGAAGGACTCC	0.512000												
BCHE	590	broad.mit.edu	37	3	165548173	165548173	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr3:165548173G>C	uc003fem.3	-	2	809	c.649C>G	c.(649-651)CCT>GCT	p.P217A	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	217					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ACACTTTTAGGATTTCCACCA	0.443000												
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PPP3CA	5530	broad.mit.edu	37	4	102117123	102117123	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr4:102117123G>C	uc011cen.1	-	2	884	c.209C>G	c.(208-210)TCA>TGA	p.S70*	PPP3CA_uc003hvu.2_Nonsense_Mutation_p.S70*|PPP3CA_uc010ilj.2_Nonsense_Mutation_p.S70*|PPP3CA_uc003hvt.2_Nonsense_Mutation_p.S57*|PPP3CA_uc003hvs.2_Intron|PPP3CA_uc010ilk.2_Nonsense_Mutation_p.S70*	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	70	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TCGAAGAATTGATGCACCCTC	0.428000												
PCDH18	54510	broad.mit.edu	37	4	138451632	138451632	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr4:138451632T>G	uc003ihe.3	-	1	1998	c.1611A>C	c.(1609-1611)GAA>GAC	p.E537D	PCDH18_uc003ihf.3_Missense_Mutation_p.E530D|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E317D|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	537	Extracellular (Potential).|Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TCTGACTCACTTCTTCATGAT	0.418000												
FSTL5	56884	broad.mit.edu	37	4	162307248	162307248	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr4:162307248T>C	uc003iqh.2	-	16	2631	c.2195A>G	c.(2194-2196)GAT>GGT	p.D732G	FSTL5_uc003iqi.2_Missense_Mutation_p.D731G|FSTL5_uc010iqv.2_Missense_Mutation_p.D722G|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	732						extracellular region	calcium ion binding	p.D732N(1)		ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTGTAAATATCAAAAGCCTC	0.408000												
ADAMTS16	170690	broad.mit.edu	37	5	5232555	5232555	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr5:5232555G>C	uc003jdl.2	+	12	1914	c.1776G>C	c.(1774-1776)TGG>TGC	p.W592C	ADAMTS16_uc003jdk.1_Missense_Mutation_p.W592C|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	592	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GGTCGGACTGGTCTTCTTGGT	0.537000												
VCAN	1462	broad.mit.edu	37	5	82836373	82836373	+	Silent	SNP	C	C	T	rs77870162	byFrequency	TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr5:82836373C>T	uc003kii.3	+	8	7907	c.7551C>T	c.(7549-7551)GAC>GAT	p.D2517D	VCAN_uc003kij.3_Silent_p.D1530D|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.D1181D	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2517	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTCCACAGACGGTAGTTTCC	0.433000												
MEF2C	4208	broad.mit.edu	37	5	88047821	88047821	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr5:88047821G>T	uc003kjj.2	-	5	1115	c.442C>A	c.(442-444)CCA>ACA	p.P148T	MEF2C_uc003kji.2_Missense_Mutation_p.P148T|MEF2C_uc003kjk.2_Missense_Mutation_p.P148T|MEF2C_uc003kjm.2_Missense_Mutation_p.P146T|MEF2C_uc003kjl.2_Missense_Mutation_p.P166T	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	148	Ser-rich.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CTGGACACTGGGATGGAGACT	0.478000										HNSCC(66;0.2)		
AFF4	27125	broad.mit.edu	37	5	132227941	132227941	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr5:132227941G>A	uc003kyd.2	-	13	2960	c.2552C>T	c.(2551-2553)ACG>ATG	p.T851M	AFF4_uc011cxk.1_Missense_Mutation_p.T529M|AFF4_uc003kye.1_Missense_Mutation_p.T851M	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	851	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGCCACTCGTCTCCTTGTT	0.468000												
KIAA1191	57179	broad.mit.edu	37	5	175774949	175774949	+	Silent	SNP	C	C	T	rs138167765	byFrequency	TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr5:175774949C>T	uc003mdw.2	-	8	1056	c.684G>A	c.(682-684)CCG>CCA	p.P228P	KIAA1191_uc003mdx.2_Silent_p.P209P|KIAA1191_uc003mdy.2_Silent_p.P228P|KIAA1191_uc003mea.2_Silent_p.P21P|KIAA1191_uc003mdz.2_RNA	NM_020444	NP_065177	Q96A73	K1191_HUMAN	hypothetical protein LOC57179 isoform a	228							protein binding			ovary(1)	1	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GAAGGGATCTCGGTCCAAAGA	0.483000												
PRL	5617	broad.mit.edu	37	6	22294695	22294695	+	Silent	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr6:22294695G>A	uc003ndp.2	-	2	666	c.147C>T	c.(145-147)CGC>CGT	p.R49R	PRL_uc003ndo.2_Silent_p.R50R|PRL_uc003ndq.2_Silent_p.R49R|PRL_uc003ndr.1_RNA	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin precursor	49					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)					GGACGACGGCGCGGTCAAACA	0.592000												
TFAP2D	83741	broad.mit.edu	37	6	50682949	50682949	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr6:50682949G>A	uc003paf.2	+	2	672	c.160G>A	c.(160-162)GAG>AAG	p.E54K	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	54							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					CACCGGCACCGAGTTTGCGTC	0.572000												
COL19A1	1310	broad.mit.edu	37	6	70637880	70637880	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr6:70637880C>T	uc003pfc.1	+	5	463	c.346C>T	c.(346-348)CGG>TGG	p.R116W	COL19A1_uc010kam.1_Missense_Mutation_p.R12W	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	116	TSP N-terminal.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						CAAAAAGGAACGGTGGTTTCT	0.428000												
QKI	9444	broad.mit.edu	37	6	163836228	163836228	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr6:163836228G>A	uc003qui.2	+	1	554	c.3G>A	c.(1-3)ATG>ATA	p.M1I	QKI_uc003que.2_Missense_Mutation_p.M1I|QKI_uc003quf.2_Missense_Mutation_p.M1I|QKI_uc003qug.2_Missense_Mutation_p.M1I|QKI_uc003quh.2_Missense_Mutation_p.M1I|QKI_uc003quj.2_Missense_Mutation_p.M1I	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	quaking homolog, KH domain RNA binding isoform	1					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			large_intestine(1)|ovary(1)	2		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CCTGGAATATGGTCGGGGAAA	0.393000												
PDE10A	10846	broad.mit.edu	37	6	165808679	165808679	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr6:165808679C>T	uc003qun.2	-	16	1707	c.1466G>A	c.(1465-1467)GGG>GAG	p.G489E	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.G419E|PDE10A_uc003quo.2_Missense_Mutation_p.G499E	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	489					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CCAGGATGTCCCACAGGACCG	0.373000												
ZNF804B	219578	broad.mit.edu	37	7	88963200	88963200	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr7:88963200A>C	uc011khi.1	+	4	1442	c.904A>C	c.(904-906)ATT>CTT	p.I302L		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	302						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAACTCTAAAATTTTGCAAGA	0.343000										HNSCC(36;0.09)		
LMTK2	22853	broad.mit.edu	37	7	97821450	97821450	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr7:97821450A>G	uc003upd.1	+	11	1966	c.1673A>G	c.(1672-1674)AAA>AGA	p.K558R		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	558					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTAGAAGAAAAAAGTGGTAGT	0.517000												
ANK1	286	broad.mit.edu	37	8	41550270	41550270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr8:41550270G>A	uc003xok.2	-	31	3838	c.3754C>T	c.(3754-3756)CGA>TGA	p.R1252*	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Nonsense_Mutation_p.R568*|ANK1_uc003xoi.2_Nonsense_Mutation_p.R1252*|ANK1_uc003xoj.2_Nonsense_Mutation_p.R1252*|ANK1_uc003xol.2_Nonsense_Mutation_p.R1252*|ANK1_uc003xom.2_Nonsense_Mutation_p.R1293*	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1252					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGCCCCTCTCGGGGGTCATTC	0.557000												
ZNF251	90987	broad.mit.edu	37	8	145947781	145947781	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr8:145947781C>G	uc003zdv.3	-	5	1520	c.1264G>C	c.(1264-1266)GAA>CAA	p.E422Q		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	422	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTTACGTGTTCAGTAAGATGA	0.448000												
PTPRD	5789	broad.mit.edu	37	9	8485824	8485824	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr9:8485824G>A	uc003zkk.2	-	27	3704	c.2993C>T	c.(2992-2994)ACG>ATG	p.T998M	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.T989M|PTPRD_uc003zkm.2_Missense_Mutation_p.T985M|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	998	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCTTTGCTCGTATGAGCACG	0.498000										TSP Lung(15;0.13)		
GAPVD1	26130	broad.mit.edu	37	9	128092357	128092357	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr9:128092357G>A	uc010mwx.2	+	13	2359	c.2033G>A	c.(2032-2034)GGT>GAT	p.G678D	GAPVD1_uc011lzs.1_Missense_Mutation_p.G678D|GAPVD1_uc004bpp.2_Missense_Mutation_p.G678D|GAPVD1_uc004bpq.2_Missense_Mutation_p.G678D|GAPVD1_uc004bpr.2_Missense_Mutation_p.G657D|GAPVD1_uc004bps.2_Missense_Mutation_p.G678D|GAPVD1_uc010mwy.1_Missense_Mutation_p.G537D	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	678					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GGTTATACAGGTGCTGCAGCA	0.468000												
QSOX2	169714	broad.mit.edu	37	9	139113777	139113777	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chr9:139113777T>A	uc010nbi.2	-	6	724	c.686A>T	c.(685-687)GAC>GTC	p.D229V		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	229					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CGGGATCAGGTCTAAGATCAC	0.522000												
FAM123B	139285	broad.mit.edu	37	X	63412939	63412939	+	Silent	SNP	T	T	C			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chrX:63412939T>C	uc004dvo.2	-	2	501	c.228A>G	c.(226-228)GGA>GGG	p.G76G		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	76					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						CTTTGCTCCGTCCCCCTCCAA	0.537000												
IRS4	8471	broad.mit.edu	37	X	107977194	107977194	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chrX:107977194C>A	uc004eoc.2	-	1	2414	c.2381G>T	c.(2380-2382)AGA>ATA	p.R794I		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	794	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CTGAGGATTTCTGGGGTTTTT	0.473000												
SAGE1	55511	broad.mit.edu	37	X	134992203	134992203	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chrX:134992203C>A	uc004ezh.2	+	15	1905	c.1738C>A	c.(1738-1740)CAC>AAC	p.H580N	SAGE1_uc010nry.1_Missense_Mutation_p.H549N|SAGE1_uc011mvv.1_Missense_Mutation_p.H204N	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	580										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TACCGTCACTCACAATGTCCA	0.413000												
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-7998-01A-11D-2201-08	TCGA-FP-7998-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	172c9864-c26d-4e9b-947a-e8ce761e996d	1c38848b-b948-49d7-8c2f-bfdcbcddd43f	g.chrX:149639635A>T	uc004fee.1	+	3	1866	c.1790A>T	c.(1789-1791)CAG>CTG	p.Q597L	MAMLD1_uc011mxt.1_Missense_Mutation_p.Q559L|MAMLD1_uc011mxu.1_Missense_Mutation_p.Q572L|MAMLD1_uc011mxv.1_Missense_Mutation_p.Q572L|MAMLD1_uc011mxw.1_Missense_Mutation_p.Q524L	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.483000