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
C1orf187	374946	broad.mit.edu	37	1	11766500	11766500	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:11766500C>T	uc001asr.1	+	2	325	c.185C>T	c.(184-186)CCG>CTG	p.P62L		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	chromosome 1 open reading frame 187 precursor	62					axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region					0	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		CGGCGGGGCCCGGGCAAGAAG	0.726000												
ARHGEF10L	55160	broad.mit.edu	37	1	17914087	17914087	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:17914087C>G	uc001ban.2	+	3	329	c.170C>G	c.(169-171)CCT>CGT	p.P57R	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P57R|ARHGEF10L_uc001bao.2_Missense_Mutation_p.P57R|ARHGEF10L_uc001bap.2_Missense_Mutation_p.P57R|ARHGEF10L_uc010ocr.1_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	57					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCCTTGCTCCTGAGAGGGAC	0.587000												
MATN1	4146	broad.mit.edu	37	1	31188062	31188062	+	Silent	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:31188062C>T	uc001brz.2	-	6	1336	c.1302G>A	c.(1300-1302)ACG>ACA	p.T434T	MATN1_uc001bsa.1_Silent_p.T352T	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	434	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGTCAGCCGTGTAGAAGT	0.532000												
NTNG1	22854	broad.mit.edu	37	1	107867165	107867165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:107867165C>T	uc001dvh.3	+	3	1226	c.508C>T	c.(508-510)CGA>TGA	p.R170*	NTNG1_uc001dvf.3_Nonsense_Mutation_p.R170*|NTNG1_uc010out.1_Nonsense_Mutation_p.R170*|NTNG1_uc001dvc.3_Nonsense_Mutation_p.R170*|NTNG1_uc001dvd.1_Nonsense_Mutation_p.R170*	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	170	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CGATTATGGACGAACATGGCA	0.433000												
PHGDH	26227	broad.mit.edu	37	1	120263849	120263849	+	Silent	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:120263849C>T	uc001ehz.2	+	2	422	c.195C>T	c.(193-195)AAC>AAT	p.N65N	PHGDH_uc009whl.2_Translation_Start_Site|PHGDH_uc009whm.2_Translation_Start_Site|PHGDH_uc001eia.2_Silent_p.N65N|PHGDH_uc009whn.2_Silent_p.N65N|PHGDH_uc001eib.2_Silent_p.N31N	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	65					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	ATGTCATCAACGCAGCTGAGA	0.517000												
PGLYRP3	114771	broad.mit.edu	37	1	153277444	153277444	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:153277444C>T	uc001fbn.1	-	3	408	c.355G>A	c.(355-357)GCC>ACC	p.A119T		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	119					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAAGAAGGCGATGCCCAGG	0.537000												
NTRK1	4914	broad.mit.edu	37	1	156841515	156841515	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:156841515G>A	uc001fqh.1	+	7	874	c.818G>A	c.(817-819)CGG>CAG	p.R273Q	NTRK1_uc001fqf.1_Missense_Mutation_p.R243Q|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Missense_Mutation_p.R273Q|NTRK1_uc009wsk.1_Missense_Mutation_p.R273Q	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	273	Ig-like C2-type 1.|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)	GATGTGGGCCGGGCAGAGGTC	0.582000			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)		
OR10K2	391107	broad.mit.edu	37	1	158390292	158390292	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:158390292C>T	uc010pii.1	-	1	365	c.365G>A	c.(364-366)CGT>CAT	p.R122H		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					GGCTATGTAACGATCATAACC	0.507000												
SPTA1	6708	broad.mit.edu	37	1	158624513	158624513	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:158624513C>T	uc001fst.1	-	21	3123	c.2924G>A	c.(2923-2925)GGA>GAA	p.G975E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	975					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TCCAGCAACTCCCTCCACTGG	0.512000												
ZNF648	127665	broad.mit.edu	37	1	182025649	182025649	+	Silent	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:182025649G>A	uc001goz.2	-	2	1705	c.1497C>T	c.(1495-1497)TCC>TCT	p.S499S		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCTTCTCCCCGGAGTGGATCT	0.627000												
IARS2	55699	broad.mit.edu	37	1	220320847	220320847	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:220320847G>T	uc001hmc.2	+	23	3013	c.2909G>T	c.(2908-2910)CGT>CTT	p.R970L	IARS2_uc001hmd.2_Missense_Mutation_p.R306L	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	970					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGTGATATTCGTGAAGAGTCT	0.378000												
TP53BP2	7159	broad.mit.edu	37	1	223990025	223990025	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:223990025G>A	uc010pvb.1	-	9	1310	c.1018C>T	c.(1018-1020)CCC>TCC	p.P340S	TP53BP2_uc001hod.2_Missense_Mutation_p.P211S|TP53BP2_uc010puz.1_5'Flank|TP53BP2_uc010pva.1_5'UTR	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	334	Interaction with APPBP1.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GCTTGCTGGGGAAGATTTCCA	0.473000												
WDR64	128025	broad.mit.edu	37	1	241959601	241959601	+	Missense_Mutation	SNP	G	G	A	rs139639842	by1000genomes	TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:241959601G>A	uc001hzf.1	+	16	1903	c.1750G>A	c.(1750-1752)GTA>ATA	p.V584I	WDR64_uc001hzg.1_Missense_Mutation_p.V497I	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1031										skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACTGATTGGCGTAGAAGCCCA	0.398000												
OR2T12	127064	broad.mit.edu	37	1	248458154	248458154	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:248458154C>A	uc010pzj.1	-	1	727	c.727G>T	c.(727-729)GTG>TTG	p.V243L		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(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;0.0201)			ACCACAGCCACATGTGAAGAG	0.512000												
MTPAP	55149	broad.mit.edu	37	10	30611466	30611466	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr10:30611466C>T	uc001iva.3	-	6	1136	c.1073G>A	c.(1072-1074)CGG>CAG	p.R358Q	MTPAP_uc001ivb.3_Missense_Mutation_p.R488Q	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	358					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1						AGCCCAGCACCGTACACTGAA	0.408000												
ADO	84890	broad.mit.edu	37	10	64565194	64565194	+	Silent	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr10:64565194C>T	uc001jmg.2	+	1	679	c.375C>T	c.(373-375)TAC>TAT	p.Y125Y		NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	125							cysteamine dioxygenase activity|metal ion binding				0	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGGTGCTGTACGGCACCGTGC	0.697000												
C11orf41	25758	broad.mit.edu	37	11	33689480	33689480	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:33689480C>A	uc001mup.3	+	20	5472	c.5348C>A	c.(5347-5349)TCC>TAC	p.S1783Y		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1777						integral to membrane				ovary(2)	2						AGCTCTCCCTCCAGGCTTCCT	0.687000												
CELF1	10658	broad.mit.edu	37	11	47498889	47498889	+	Silent	SNP	G	G	C			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:47498889G>C	uc001nfl.2	-	8	862	c.852C>G	c.(850-852)CTC>CTG	p.L284L	CELF1_uc001nfm.2_Silent_p.L280L|CELF1_uc001nfn.2_Silent_p.L280L|CELF1_uc001nfo.1_Silent_p.L310L|CELF1_uc010rhm.1_Silent_p.L283L|CELF1_uc001nfp.2_Silent_p.L311L|CELF1_uc001nfq.1_Silent_p.L284L|CELF1_uc001nfr.1_Silent_p.L284L	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	284					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3						TGGATGTAGTGAGAGCATTGG	0.488000												
OR5T1	390155	broad.mit.edu	37	11	56043465	56043465	+	Silent	SNP	T	T	C			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:56043465T>C	uc001nio.1	+	1	351	c.351T>C	c.(349-351)TGT>TGC	p.C117C		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TTCTTGCTTGTACTTTTGGAA	0.403000												
SERPING1	710	broad.mit.edu	37	11	57381834	57381834	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:57381834G>A	uc001nkp.1	+	8	1474	c.1283G>A	c.(1282-1284)TGT>TAT	p.C428Y	SERPING1_uc001nkq.1_Missense_Mutation_p.C391Y|SERPING1_uc010rju.1_Missense_Mutation_p.C376Y|SERPING1_uc010rjv.1_Missense_Mutation_p.C433Y|SERPING1_uc001nkr.1_Missense_Mutation_p.C428Y|SERPING1_uc009ymi.1_Missense_Mutation_p.C437Y|SERPING1_uc009ymj.1_Missense_Mutation_p.V355M|SERPING1_uc001nks.1_Missense_Mutation_p.C119Y	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	428					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						CTTAACCTGTGTGGGCTGACA	0.522000									Hereditary_Angioedema			
INTS5	80789	broad.mit.edu	37	11	62416322	62416322	+	Silent	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:62416322C>T	uc001nud.2	-	2	1283	c.1230G>A	c.(1228-1230)CTG>CTA	p.L410L	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	410					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CTGTGTCCACCAGGAACTGCA	0.617000												
DRAP1	10589	broad.mit.edu	37	11	65688066	65688066	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:65688066G>A	uc001ogj.1	+	5	601	c.356G>A	c.(355-357)CGG>CAG	p.R119Q	C11orf68_uc009yqv.2_5'Flank|C11orf68_uc001ogi.2_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	DR1-associated protein 1	119					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				READ - Rectum adenocarcinoma(159;0.166)		AGCGGCGGCCGGAAGAACGGT	0.652000												
PDE2A	5138	broad.mit.edu	37	11	72295692	72295692	+	Silent	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:72295692G>A	uc010rrc.1	-	18	1683	c.1440C>T	c.(1438-1440)GAC>GAT	p.D480D	PDE2A_uc001oso.2_Silent_p.D459D|PDE2A_uc010rra.1_Silent_p.D473D|PDE2A_uc001osn.2_Silent_p.D224D|PDE2A_uc010rrb.1_Silent_p.D471D|PDE2A_uc010rrd.1_Silent_p.D365D	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	480	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GGGCATATGCGTCAGGGATGT	0.627000												
GRAMD1B	57476	broad.mit.edu	37	11	123481039	123481039	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:123481039C>T	uc001pyx.2	+	13	1812	c.1483C>T	c.(1483-1485)CGA>TGA	p.R495*	GRAMD1B_uc001pyw.2_Nonsense_Mutation_p.R502*|GRAMD1B_uc010rzw.1_Nonsense_Mutation_p.R455*|GRAMD1B_uc010rzx.1_Nonsense_Mutation_p.R455*|GRAMD1B_uc001pyy.2_Nonsense_Mutation_p.R186*	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	495						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GAACAAGAGCCGACTCAGGTG	0.567000												
ADAMTS15	170689	broad.mit.edu	37	11	130341220	130341220	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:130341220G>C	uc010scd.1	+	7	2020	c.2020G>C	c.(2020-2022)GTG>CTG	p.V674L		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	674	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CAAGTGTGGGGTGTGTGGGGG	0.567000												
OPCML	4978	broad.mit.edu	37	11	133402180	133402180	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr11:133402180T>A	uc001qgu.2	-	1	224	c.40A>T	c.(40-42)ACT>TCT	p.T14S		NM_001012393	NP_001012393	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGCAGGGCAGTTGTCGCCGAG	0.517000												
TNFRSF1A	7132	broad.mit.edu	37	12	6442257	6442257	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr12:6442257T>C	uc001qnu.2	-	5	810	c.529A>G	c.(529-531)AAC>GAC	p.N177D	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.N69D|TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_Missense_Mutation_p.N69D|TNFRSF1A_uc009zek.2_Missense_Mutation_p.N134D|TNFRSF1A_uc010sfa.1_Missense_Mutation_p.N177D	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	177	TNFR-Cys 4.|Extracellular (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3						ACACACTCGTTTTCTCTTAGA	0.547000												
CD163L1	283316	broad.mit.edu	37	12	7585200	7585200	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr12:7585200C>A	uc001qsy.2	-	4	604	c.578G>T	c.(577-579)TGC>TTC	p.C193F	CD163L1_uc010sge.1_Missense_Mutation_p.C203F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	193	SRCR 2.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TAGTTGCCTGCACACCACGGC	0.473000												
GRIN2B	2904	broad.mit.edu	37	12	13716623	13716623	+	Silent	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr12:13716623C>T	uc001rbt.2	-	13	3728	c.3549G>A	c.(3547-3549)ACG>ACA	p.T1183T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1183	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTTGTCGCCCGTCCCGTGCT	0.617000												
E2F7	144455	broad.mit.edu	37	12	77417809	77417809	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr12:77417809C>T	uc001sym.3	-	13	2958	c.2722G>A	c.(2722-2724)GGC>AGC	p.G908S	E2F7_uc009zse.2_3'UTR	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	908					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						TCAGCGCCGCCGCTGGGGATT	0.612000												
RFC3	5983	broad.mit.edu	37	13	34409298	34409298	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr13:34409298C>T	uc001uuz.2	+	8	933	c.823C>T	c.(823-825)CGT>TGT	p.R275C	RFC3_uc001uva.2_Missense_Mutation_p.R275C|RFC3_uc010ted.1_Missense_Mutation_p.R275C	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	275					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding				0		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		CCTTGAAGTTCGTGGAAGGCT	0.313000												
STOML3	161003	broad.mit.edu	37	13	39544507	39544507	+	Missense_Mutation	SNP	C	C	T	rs34402894	byFrequency	TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr13:39544507C>T	uc001uwx.2	-	5	469	c.331G>A	c.(331-333)GTA>ATA	p.V111I	STOML3_uc010tez.1_Missense_Mutation_p.V102I	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	stomatin-like 3 isoform 1	111	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TGAGTAGTTACGGAGTCTCTG	0.453000												
PCDH8	5100	broad.mit.edu	37	13	53421999	53421999	+	Silent	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr13:53421999G>A	uc001vhi.2	-	1	776	c.573C>T	c.(571-573)GGC>GGT	p.G191G	PCDH8_uc001vhj.2_Silent_p.G191G	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	191	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGCACTGAGCGCCGTCCGCTC	0.746000												
PCDH9	5101	broad.mit.edu	37	13	67799808	67799808	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr13:67799808G>A	uc001vik.2	-	2	3457	c.2765C>T	c.(2764-2766)CCG>CTG	p.P922L	PCDH9_uc001vil.2_Missense_Mutation_p.P922L|PCDH9_uc010thl.1_Missense_Mutation_p.P922L|PCDH9_uc001vin.3_Missense_Mutation_p.P922L	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	922	Cytoplasmic (Potential).			P -> S (in Ref. 2; CAD97664).	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGGAGGTGCCGGGCCCCAGTC	0.502000												
TFDP1	7027	broad.mit.edu	37	13	114265370	114265370	+	Silent	SNP	C	C	T	rs144432965	byFrequency	TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr13:114265370C>T	uc001vtw.2	+	3	284	c.72C>T	c.(70-72)CCC>CCT	p.P24P	TFDP1_uc010tkd.1_5'UTR|TFDP1_uc010tke.1_5'UTR|TFDP1_uc001vty.3_Silent_p.P24P|TFDP1_uc010agx.2_Silent_p.P24P	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	24					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ACCTTAGTCCCGGGAAAGGTA	0.443000										TSP Lung(29;0.18)		
PCNX	22990	broad.mit.edu	37	14	71542925	71542925	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr14:71542925C>T	uc001xmo.2	+	28	5572	c.5126C>T	c.(5125-5127)ACG>ATG	p.T1709M	PCNX_uc010are.1_Missense_Mutation_p.T1598M|PCNX_uc010arf.1_Missense_Mutation_p.T497M	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1709						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TATTATGTTACGACCTCGTCT	0.358000												
SLC24A4	123041	broad.mit.edu	37	14	92908491	92908491	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr14:92908491C>T	uc001yak.2	+	5	425	c.401C>T	c.(400-402)ACG>ATG	p.T134M	SLC24A4_uc001yai.2_Missense_Mutation_p.T87M|SLC24A4_uc010twm.1_Missense_Mutation_p.T151M|SLC24A4_uc001yaj.2_Missense_Mutation_p.T134M|SLC24A4_uc010auj.2_Missense_Mutation_p.T42M|SLC24A4_uc010twn.1_5'Flank	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	151	Cytoplasmic (Potential).|Alpha-1.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GGAAGCTCAACGCCAGAGCTG	0.552000												
FBN1	2200	broad.mit.edu	37	15	48782211	48782211	+	Silent	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr15:48782211G>A	uc001zwx.1	-	25	3247	c.2919C>T	c.(2917-2919)GGC>GGT	p.G973G		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	973	TB 5.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCGGTGGCGGCCAGCAATAG	0.587000												
SLCO3A1	28232	broad.mit.edu	37	15	92459375	92459375	+	Silent	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr15:92459375C>T	uc002bqx.2	+	2	534	c.333C>T	c.(331-333)TGC>TGT	p.C111C	SLCO3A1_uc002bqy.2_Silent_p.C111C|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.C53C	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	111	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TGATCGGCTGCGGCGGCATCG	0.692000												
KCNG4	93107	broad.mit.edu	37	16	84256365	84256365	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr16:84256365G>A	uc010voc.1	-	3	1139	c.1018C>T	c.(1018-1020)CGA>TGA	p.R340*		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	340	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						CGCAGCGCTCGCAGCACACGC	0.697000												
USP22	23326	broad.mit.edu	37	17	20911279	20911279	+	Silent	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr17:20911279G>A	uc002gym.3	-	9	1338	c.1134C>T	c.(1132-1134)AGC>AGT	p.S378S	USP22_uc002gyn.3_Silent_p.S366S|USP22_uc002gyl.3_Silent_p.S273S	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	378					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						TGATCTTGGCGCTGCTGCCCA	0.488000												
DHX58	79132	broad.mit.edu	37	17	40263479	40263479	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr17:40263479G>A	uc002hyw.3	-	4	428	c.205C>T	c.(205-207)CGC>TGC	p.R69C	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.R62C	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	69	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCAGCATGCGCCTGAACTCT	0.622000												
RNF157	114804	broad.mit.edu	37	17	74169807	74169807	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr17:74169807C>T	uc002jqz.2	-	3	341	c.272G>A	c.(271-273)CGA>CAA	p.R91Q	RNF157_uc002jra.2_Missense_Mutation_p.R91Q	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	91							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			TGTGTCCTTTCGGATATTGAC	0.582000												
LAMA1	284217	broad.mit.edu	37	18	6975032	6975032	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr18:6975032C>G	uc002knm.2	-	46	6587	c.6493G>C	c.(6493-6495)GAT>CAT	p.D2165H	LAMA1_uc010wzj.1_Missense_Mutation_p.D1641H	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2165	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAAGGAAATCAGACTGGGGG	0.537000												
C18orf34	374864	broad.mit.edu	37	18	30672724	30672724	+	Splice_Site	SNP	C	C	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr18:30672724C>A	uc002kxn.2	-	20	2530	c.2388_splice	c.e20+1	p.Q796_splice	C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc010xbr.1_Splice_Site_p.Q796_splice|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Splice_Site_p.Q758_splice|C18orf34_uc002kxp.2_Splice_Site_p.Q796_splice	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1											ovary(1)	1						AAAACCAATACCTGTTTCTTA	0.299000												
RYR1	6261	broad.mit.edu	37	19	38985210	38985210	+	Silent	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr19:38985210C>T	uc002oit.2	+	39	6623	c.6493C>T	c.(6493-6495)CTG>TTG	p.L2165L	RYR1_uc002oiu.2_Silent_p.L2165L|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2165	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GATCCGCTCGCTGCTCATCGT	0.632000												
GALP	85569	broad.mit.edu	37	19	56693573	56693573	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr19:56693573G>A	uc002qmo.1	+	4	251	c.169G>A	c.(169-171)GGA>AGA	p.G57R	GALP_uc010eti.2_Silent_p.T40T	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	galanin-like peptide isoform 1 precursor	57					neuropeptide signaling pathway	extracellular region	hormone activity				0		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGACCAAGACGGAAAGAGGGA	0.567000												
KIF3C	3797	broad.mit.edu	37	2	26203456	26203456	+	Missense_Mutation	SNP	G	G	A	rs145081324		TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr2:26203456G>A	uc002rgu.2	-	1	1988	c.1331C>T	c.(1330-1332)CCG>CTG	p.P444L	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.P444L	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	444	Potential.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCTGGGGCGGGCGGTGGTT	0.607000												
OTOF	9381	broad.mit.edu	37	2	26781408	26781408	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr2:26781408G>A	uc002rhk.2	-	1	159	c.32C>T	c.(31-33)TCG>TTG	p.S11L		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	11	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGCTCCGAGACTGTCTT	0.662000												
IWS1	55677	broad.mit.edu	37	2	128263154	128263154	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr2:128263154C>G	uc002ton.2	-	3	628	c.325G>C	c.(325-327)GAA>CAA	p.E109Q	IWS1_uc010yzl.1_RNA|IWS1_uc010fma.2_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	109	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCCTCATTTTCAGAATCGCTT	0.463000												
CSRNP3	80034	broad.mit.edu	37	2	166535217	166535217	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr2:166535217C>T	uc002udf.2	+	7	1088	c.712C>T	c.(712-714)CGT>TGT	p.R238C	CSRNP3_uc002udg.2_Missense_Mutation_p.R238C	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	238	Cys-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						CAAGGTGGATCGTATGTCTTT	0.403000												
TGM3	7053	broad.mit.edu	37	20	2308983	2308983	+	Silent	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr20:2308983C>T	uc002wfx.3	+	9	1402	c.1305C>T	c.(1303-1305)GAC>GAT	p.D435D		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	435					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CTCGCATGGACGTCACGGACA	0.577000												
PRPF6	24148	broad.mit.edu	37	20	62642823	62642823	+	Silent	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr20:62642823C>T	uc002yho.2	+	11	1659	c.1491C>T	c.(1489-1491)AAC>AAT	p.N497N	PRPF6_uc002yhp.2_Silent_p.N497N	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	497					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TGCGGGCCAACGGTGTGGAGA	0.592000												
CLDN17	26285	broad.mit.edu	37	21	31538677	31538677	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr21:31538677C>T	uc011acv.1	-	1	259	c.259G>A	c.(259-261)GCT>ACT	p.A87T		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	87	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						AGAGCAACAGCCACACACATG	0.572000												
NEK10	152110	broad.mit.edu	37	3	27184958	27184958	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:27184958C>A	uc010hfk.2	-	11	1183	c.954G>T	c.(952-954)CAG>CAT	p.Q318H	NEK10_uc010hfj.2_Intron			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1006							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						ATGTGCCCATCTGTGGCCCTA	0.333000												
CTNNB1	1499	broad.mit.edu	37	3	41266599	41266599	+	Silent	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:41266599G>A	uc010hia.1	+	5	552	c.396G>A	c.(394-396)CTG>CTA	p.L132L	CTNNB1_uc003ckp.2_Silent_p.L132L|CTNNB1_uc003ckq.2_Silent_p.L132L|CTNNB1_uc003ckr.2_Silent_p.L132L|CTNNB1_uc011azf.1_Silent_p.L125L|CTNNB1_uc011azg.1_Silent_p.L60L|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	132					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.D6_K133del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.A5_D144>D(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CACAGATGCTGAAACATGCAG	0.458000		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of			
CTNNB1	1499	broad.mit.edu	37	3	41266671	41266671	+	Silent	SNP	G	G	C			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:41266671G>C	uc010hia.1	+	5	624	c.468G>C	c.(466-468)CTG>CTC	p.L156L	CTNNB1_uc003ckp.2_Silent_p.L156L|CTNNB1_uc003ckq.2_Silent_p.L156L|CTNNB1_uc003ckr.2_Silent_p.L156L|CTNNB1_uc011azf.1_Silent_p.L149L|CTNNB1_uc011azg.1_Silent_p.L84L|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	156	ARM 1.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.M1_V173del(1)|p.I35_K170del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCCCTGAACTGACAAAACTGC	0.418000		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of			
RNF123	63891	broad.mit.edu	37	3	49739039	49739039	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:49739039G>A	uc003cxh.2	+	16	1479	c.1393G>A	c.(1393-1395)GAG>AAG	p.E465K	RNF123_uc010hky.1_Missense_Mutation_p.E127K|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	465						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTCCAGTAGGGAGGTGAGTGC	0.632000											OREG0015570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CACNA1D	776	broad.mit.edu	37	3	53842763	53842763	+	Missense_Mutation	SNP	G	G	A	rs150366975		TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:53842763G>A	uc003dgv.3	+	46	6000	c.5837G>A	c.(5836-5838)CGC>CAC	p.R1946H	CACNA1D_uc003dgu.3_Missense_Mutation_p.R1966H|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1922H|CACNA1D_uc003dgw.3_Missense_Mutation_p.R1613H|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1946	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTCCCCCATCGCACGGCCCTG	0.632000												
CRYBG3	131544	broad.mit.edu	37	3	97655739	97655739	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:97655739G>A	uc003drx.2	+	16	2712	c.2648G>A	c.(2647-2649)CGT>CAT	p.R883H	CRYBG3_uc010hoz.1_RNA	NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						GGTTCCCTCCGTCCTATGAAG	0.398000												
TF	7018	broad.mit.edu	37	3	133467336	133467336	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:133467336C>T	uc003epu.1	+	7	1852	c.124C>T	c.(124-126)CGC>TGC	p.R42C	TF_uc011bls.1_Missense_Mutation_p.R42C|TF_uc011blt.1_Intron|TF_uc003epw.1_Intron|TF_uc010htv.1_RNA|TF_uc003epv.1_Missense_Mutation_p.R42C	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	42	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CCAGAGTTTCCGCGACCATAT	0.542000												
SI	6476	broad.mit.edu	37	3	164716350	164716350	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:164716350G>T	uc003fei.2	-	38	4580	c.4518C>A	c.(4516-4518)GAC>GAA	p.D1506E		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1506	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTCCATGTTGTCCCATCGTG	0.403000										HNSCC(35;0.089)		
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:178917478G>A	uc003fjk.2	+	3	510	c.353G>A	c.(352-354)GGT>GAT	p.G118D		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	118					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.G118D(6)		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)			TTTATTAAAGGTTTTGCTATC	0.338000		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
EVC2	132884	broad.mit.edu	37	4	5586352	5586352	+	Missense_Mutation	SNP	G	G	A	rs139610006		TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr4:5586352G>A	uc003gij.2	-	17	3109	c.3055C>T	c.(3055-3057)CGG>TGG	p.R1019W	EVC2_uc011bwb.1_Missense_Mutation_p.R459W|EVC2_uc003gik.2_Missense_Mutation_p.R939W	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1019	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						GCACTCACCCGGCTGTGCGAC	0.483000												
PARM1	25849	broad.mit.edu	37	4	75971375	75971375	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr4:75971375A>T	uc003hih.1	+	4	1091	c.851A>T	c.(850-852)CAT>CTT	p.H284L		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	prostatic androgen-repressed message-1	284	Cytoplasmic (Potential).				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				ovary(1)	1						TCCACCAGGCATTCCTCCTAT	0.507000												
WDFY3	23001	broad.mit.edu	37	4	85660241	85660241	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr4:85660241C>T	uc003hpd.2	-	40	6904	c.6496G>A	c.(6496-6498)GCC>ACC	p.A2166T		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2166						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTCATGCGGGCTTCTGCTTCC	0.418000												
PCDH10	57575	broad.mit.edu	37	4	134073082	134073082	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr4:134073082C>T	uc003iha.2	+	1	2613	c.1787C>T	c.(1786-1788)CCG>CTG	p.P596L	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P596L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	596	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TCGGCGGAGCCGGGTTACCTG	0.652000												
TRIO	7204	broad.mit.edu	37	5	14291165	14291165	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr5:14291165A>T	uc003jff.2	+	5	887	c.881A>T	c.(880-882)AAA>ATA	p.K294I	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.K245I|TRIO_uc003jfh.1_5'Flank	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	294					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGCTTTCCCAAAAAGAACTCA	0.552000												
CMYA5	202333	broad.mit.edu	37	5	79041267	79041267	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr5:79041267G>A	uc003kgc.2	+	4	11029	c.10957G>A	c.(10957-10959)GTC>ATC	p.V3653I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3653	B-box coiled-coil; BBC.|Potential.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGATGAGGCCGTCTTCCTGAC	0.483000												
CAST	831	broad.mit.edu	37	5	96066545	96066545	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr5:96066545C>T	uc003klz.1	+	7	524	c.362C>T	c.(361-363)TCT>TTT	p.S121F	CAST_uc003klt.2_Missense_Mutation_p.S121F|CAST_uc003klu.2_Missense_Mutation_p.S204F|CAST_uc003klv.2_Missense_Mutation_p.S182F|CAST_uc003klw.2_Missense_Mutation_p.S185F|CAST_uc003klx.2_Missense_Mutation_p.S163F|CAST_uc003kly.2_Missense_Mutation_p.S182F|CAST_uc011cuo.1_Missense_Mutation_p.S167F|CAST_uc011cup.1_Intron|CAST_uc011cuq.1_Intron|CAST_uc011cur.1_Missense_Mutation_p.S107F|CAST_uc011cus.1_Missense_Mutation_p.S121F|CAST_uc003kma.1_Missense_Mutation_p.S80F|CAST_uc011cut.1_Intron|CAST_uc003kmb.2_Missense_Mutation_p.S80F|CAST_uc003kmc.2_Missense_Mutation_p.S121F|CAST_uc003kmd.2_Missense_Mutation_p.S99F|CAST_uc003kme.2_Missense_Mutation_p.S80F|CAST_uc003kmf.2_Missense_Mutation_p.S99F	NM_001042443	NP_001035908	P20810	ICAL_HUMAN	calpastatin isoform i	121							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(3)|ovary(1)|kidney(1)	5		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		ACTGCAATATCTGGCAAGCCG	0.453000												
FAT2	2196	broad.mit.edu	37	5	150901482	150901482	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr5:150901482G>C	uc003lue.3	-	18	10685	c.10672C>G	c.(10672-10674)CGA>GGA	p.R3558G	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.R251G	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3558	Cadherin 32.|Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGGGTCTCGGTCTGTGGCA	0.582000												
TRIM41	90933	broad.mit.edu	37	5	180659794	180659794	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr5:180659794G>A	uc003mne.1	+	3	1739	c.1045G>A	c.(1045-1047)GCG>ACG	p.A349T	uc003mnb.1_5'Flank|TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Missense_Mutation_p.A349T|TRIM41_uc003mnf.1_RNA|TRIM41_uc010jlq.1_Missense_Mutation_p.A59T|TRIM41_uc003mng.1_5'Flank	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	349	Potential.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCGGGAGCCGCGGCTAGTCG	0.682000												
NOTCH4	4855	broad.mit.edu	37	6	32168694	32168694	+	Missense_Mutation	SNP	C	C	T	rs143040647	by1000genomes	TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr6:32168694C>T	uc003obb.2	-	23	4368	c.4229G>A	c.(4228-4230)CGC>CAC	p.R1410H	NOTCH4_uc003oba.2_Missense_Mutation_p.R73H|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1410	Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						AGCAAGGAAGCGGAGTAGAAG	0.647000												
THBS2	7058	broad.mit.edu	37	6	169648658	169648658	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr6:169648658G>T	uc003qwt.2	-	4	711	c.463C>A	c.(463-465)CAG>AAG	p.Q155K		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	155	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCAGCCACCTGCACGGTGACG	0.622000												
ABCB5	340273	broad.mit.edu	37	7	20668315	20668315	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr7:20668315G>A	uc010kuh.2	+	4	350	c.113G>A	c.(112-114)CGC>CAC	p.R38H		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						CCTCAGTTCCGCTTTGCTGAT	0.483000												
EPHB4	2050	broad.mit.edu	37	7	100403165	100403165	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr7:100403165C>T	uc003uwn.1	-	15	3127	c.2636G>A	c.(2635-2637)CGG>CAG	p.R879Q	EPHB4_uc003uwm.1_Missense_Mutation_p.R786Q|EPHB4_uc010lhj.1_Missense_Mutation_p.R879Q	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	879	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCGGGGTTCCGGATCATCTT	0.657000												
ARHGEF10	9639	broad.mit.edu	37	8	1900886	1900886	+	Missense_Mutation	SNP	C	C	T	rs145686019		TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr8:1900886C>T	uc003wpr.2	+	28	3591	c.3413C>T	c.(3412-3414)TCG>TTG	p.S1138L	ARHGEF10_uc003wps.2_Missense_Mutation_p.S1100L|ARHGEF10_uc010lre.2_Missense_Mutation_p.S789L	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1163					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAGCGGCTGTCGGTGACGAGC	0.642000												
CSMD1	64478	broad.mit.edu	37	8	2820838	2820838	+	Silent	SNP	A	A	G			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr8:2820838A>G	uc011kwk.1	-	60	9753	c.9363T>C	c.(9361-9363)AGT>AGC	p.S3121S	CSMD1_uc011kwj.1_Silent_p.S2450S|CSMD1_uc010lrg.2_Silent_p.S1012S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3121	Sushi 25.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCAGCTGTAACTTATGCTGG	0.562000												
PRSS55	203074	broad.mit.edu	37	8	10388948	10388948	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr8:10388948C>T	uc003wta.2	+	3	506	c.491C>T	c.(490-492)TCG>TTG	p.S164L	uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	164	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1						CTGCTGGCTTCGCCCATCAAG	0.577000												
BHLHE22	27319	broad.mit.edu	37	8	65494237	65494237	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr8:65494237C>T	uc003xvi.2	+	1	1424	c.890C>T	c.(889-891)GCG>GTG	p.A297V	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	297	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CTCATGCAGGCGCAGGCCCTG	0.682000												
INTS8	55656	broad.mit.edu	37	8	95892417	95892417	+	Silent	SNP	A	A	G			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr8:95892417A>G	uc003yhb.2	+	27	3069	c.2943A>G	c.(2941-2943)AGA>AGG	p.R981R	INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.R791R	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	981					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					CAGCGCAGAGAAGGAAAAAAA	0.338000												
NCALD	83988	broad.mit.edu	37	8	102705079	102705079	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr8:102705079C>T	uc003yke.2	-	3	793	c.424G>A	c.(424-426)GAG>AAG	p.E142K	NCALD_uc003ykf.2_Missense_Mutation_p.E142K|NCALD_uc003ykg.2_Missense_Mutation_p.E142K|NCALD_uc003ykh.2_Missense_Mutation_p.E142K|NCALD_uc003yki.2_Missense_Mutation_p.E142K|NCALD_uc003ykj.2_Missense_Mutation_p.E142K|NCALD_uc003ykk.2_Missense_Mutation_p.E142K|NCALD_uc003ykl.2_Missense_Mutation_p.E142K	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	142					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding				0	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			GGGGTTGACTCATCTTCAGGC	0.483000												
TAF1L	138474	broad.mit.edu	37	9	32633111	32633111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr9:32633111G>A	uc003zrg.1	-	1	2557	c.2467C>T	c.(2467-2469)CGA>TGA	p.R823*	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	823					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGAAAGTCTCGAATATGCATA	0.423000												
ADAMTS13	11093	broad.mit.edu	37	9	136310894	136310894	+	Silent	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr9:136310894C>T	uc004cdv.3	+	21	3129	c.2685C>T	c.(2683-2685)CAC>CAT	p.H895H	ADAMTS13_uc004cdp.3_Silent_p.H122H|ADAMTS13_uc004cdt.1_Silent_p.H895H|ADAMTS13_uc004cdu.1_Silent_p.H864H|ADAMTS13_uc004cdw.3_Silent_p.H895H|ADAMTS13_uc004cdx.3_Silent_p.H864H|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Silent_p.H565H|ADAMTS13_uc004cds.1_Silent_p.H420H|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	895					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AAGCTGCACACGTGTGGACCC	0.652000												
FIGF	2277	broad.mit.edu	37	X	15402066	15402066	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chrX:15402066C>T	uc004cwt.1	-	1	512	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_004469	NP_004460	O43915	VEGFD_HUMAN	vascular endothelial growth factor D	1					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					ACTCTCTGTACATTTTGAATA	0.418000												
SHROOM4	57477	broad.mit.edu	37	X	50350385	50350385	+	Missense_Mutation	SNP	C	C	T	rs143812034		TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chrX:50350385C>T	uc004dpe.2	-	6	3783	c.3757G>A	c.(3757-3759)GCC>ACC	p.A1253T	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1253	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					ACTTACTTGGCGGATTCAGTG	0.313000												
WDR44	54521	broad.mit.edu	37	X	117575479	117575479	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chrX:117575479T>C	uc004eqn.2	+	15	2548	c.2123T>C	c.(2122-2124)GTG>GCG	p.V708A	WDR44_uc004eqo.2_Missense_Mutation_p.V708A|WDR44_uc011mtr.1_Intron|WDR44_uc010nqi.2_Missense_Mutation_p.V418A	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	708	WD 4.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						AAATATGCAGTGATTGGGACA	0.323000												
ARID1A	8289	broad.mit.edu	37	1	27101189	27101196	+	Frame_Shift_Del	DEL	GTTGCTCA	GTTGCTCA	-			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr1:27101189_27101196delGTTGCTCA	uc001bmv.1	+	18	4844_4851	c.4471_4478delGTTGCTCA	c.(4471-4479)GTTGCTCAGfs	p.V1491fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.V1490fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.V1108fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.V337fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1491_1493					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)		ATCAGCTGAGGTTGCTCAGCAAGGCACC	0.601			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
SELV	348303	broad.mit.edu	37	19	40006439	40006439	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr19:40006439delC	uc010xvc.1	+	1	687	c.587delC	c.(586-588)ACCfs	p.T196fs		NM_182704	NP_874363	P59797	SELV_HUMAN	selenoprotein V	196					cell redox homeostasis		selenium binding				0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCACGCGCACCCCGCTGGCC	0.617												
GATA2	2624	broad.mit.edu	37	3	128200036	128200038	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr3:128200036_128200038delCTC	uc003ekm.3	-	7	1702_1704	c.1267_1269delGAG	c.(1267-1269)GAGdel	p.E423del	GATA2_uc003ekn.3_In_Frame_Del_p.E409del|GATA2_uc003eko.2_In_Frame_Del_p.E423del	NM_001145661	NP_001139133	P23769	GATA2_HUMAN	GATA binding protein 2 isoform 1	423					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15				GBM - Glioblastoma multiforme(114;0.173)		GGGATGACTTCTCCTGCATGCAC	0.596			Mis		AML(CML blast transformation)							
MACC1	346389	broad.mit.edu	37	7	20198552	20198553	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-D7-A4YX-01A-11D-A25D-08	TCGA-D7-A4YX-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c838df-6ac4-455a-8096-8ec680064374	d03406dc-fafb-4b9d-b8f0-b3d683e67273	g.chr7:20198551_20198552CTG>C	uc003sus.4	-	4	1741_1742	c.1432_1433CAG>G	c.(1432-1434)agafs	p.R478fs	MACC1_uc010kug.3_Frame_Shift_Del_p.R478fs	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	478					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTGCATCTCTCTGTGCTCAACT	0.391