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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MED24	9862	broad.mit.edu	37	17	38183255	38183255	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:38183255C>G	ENST00000394126.1	-	16	2056	c.1638G>C	c.(1636-1638)gaG>gaC	p.E546D	MED24_ENST00000394127.2_Missense_Mutation_p.E508D|MED24_ENST00000356271.3_Missense_Mutation_p.E508D|MED24_ENST00000394128.2_Missense_Mutation_p.E521D|MED24_ENST00000501516.3_Missense_Mutation_p.E540D			O75448	MED24_HUMAN	mediator complex subunit 24	521					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.E521D(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					AGAAGGGCACCTCAGCTCCTG	0.667000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	16					0	0	0.307466	0	0
NCAM1	4684	broad.mit.edu	37	11	113102911	113102911	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:113102911C>A	ENST00000316851.7	+	10	1230	c.1230C>A	c.(1228-1230)ggC>ggA	p.G410G	NCAM1_ENST00000533760.1_Silent_p.G292G|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G419G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	420	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.G419G(2)|p.G410G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCTACAGGGCCCTGTGGCTG	0.537000													3	11					6.4e-05	8.96198e-05	0.115264	1	0
CLCA4	22802	broad.mit.edu	37	1	87041270	87041270	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:87041270G>C	ENST00000370563.3	+	11	1981	c.1939G>C	c.(1939-1941)Gat>Cat	p.D647H	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	647						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.D647H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GGAACTTTTGGATAATGGTGC	0.393000													6	98					0	0	0.278610	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111523	142111523	+	RNA	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:142111523T>C	ENST00000390378.1	-	0	212																											CTCTCTCTTCTTTCTCATAAT	0.498000													7	48					0	0	0.278610	0	0
SECISBP2	79048	broad.mit.edu	37	9	91943769	91943769	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:91943769G>C	ENST00000375807.3	+	5	840	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	SECISBP2_ENST00000339901.4_Missense_Mutation_p.E184Q|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Missense_Mutation_p.E189Q	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	257					translation	nucleus	mRNA 3'-UTR binding	p.E257Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TCTTCTAAGAGAAGTAGTAAA	0.408000													4	31					0	0	0.184627	0	0
CDC27	996	broad.mit.edu	37	17	45232085	45232085	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:45232085T>A	ENST00000066544.3	-	8	1003	c.910A>T	c.(910-912)Aca>Tca	p.T304S	CDC27_ENST00000527547.1_Missense_Mutation_p.T304S|CDC27_ENST00000446365.2_Missense_Mutation_p.T243S|CDC27_ENST00000531206.1_Missense_Mutation_p.T304S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	304					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACAGGAGGTGTATTAGTGTAG	0.383000													7	16					0	0	0.307466	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630361	51630361	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:51630361G>C	ENST00000440804.3	+	4	890	c.823G>C	c.(823-825)Gat>Cat	p.D275H	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.D275H	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	275	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.D275H(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTGTGCAGTTGATGCAGTTGA	0.597000													12	66					0	0	0.411799	0	0
AMELX	265	broad.mit.edu	37	X	11316810	11316810	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:11316810C>T	ENST00000380712.3	+	6	397	c.329C>T	c.(328-330)cCc>cTc	p.P110L	AMELX_ENST00000348912.4_Missense_Mutation_p.P80L|AMELX_ENST00000380714.3_Missense_Mutation_p.P96L|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	96					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	p.P110L(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CCCGTGATCCCCCAGCAACCA	0.632000													3	53					0	0	0.150653	0	0
LRP1	4035	broad.mit.edu	37	12	57548038	57548038	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:57548038G>T	ENST00000243077.3	+	7	1355	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	LRP1_ENST00000554174.1_Missense_Mutation_p.V297L	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	297					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.V297L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTTCTACTTTGTGGATGACAT	0.512000													8	90					0.00307968	0.00368986	0.278610	1	0
TRBV4-2	28616	broad.mit.edu	37	7	142045769	142045769	+	RNA	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:142045769C>A	ENST00000390392.3	+	0	408																											ACCTACACACCCTGCAGCCAG	0.512000													18	200					1.33834e-09	2.42285e-09	0.557998	1	0
EIF1AX	1964	broad.mit.edu	37	X	20156717	20156717	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:20156717T>A	ENST00000379607.5	-	2	243	c.40A>T	c.(40-42)Agg>Tgg	p.R14W	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	14						cytosol	translation initiation factor activity	p.R14W(1)		endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTCTTACCCCTGCGTCTGTTT	0.303000													8	34					0	0	0.307466	0	0
DCBLD1	285761	broad.mit.edu	37	6	117825053	117825053	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:117825053G>T	ENST00000338728.5	+	2	356	c.236G>T	c.(235-237)aGa>aTa	p.R79I	DCBLD1_ENST00000368503.4_Missense_Mutation_p.R79I|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.R79I			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	79	CUB.				cell adhesion	integral to membrane		p.R79I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AAGGGGAAAAGACTGATTCTG	0.423000													16	58					3.41278e-10	6.29675e-10	0.520397	1	0
GPR149	344758	broad.mit.edu	37	3	154147322	154147322	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:154147322G>T	ENST00000389740.2	-	1	182	c.83C>A	c.(82-84)cCg>cAg	p.P28Q		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	28						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P28Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGTTCCTGGCGGATTTAAAAG	0.378000													6	54					0.0215528	0.0235957	0.217242	1	0
OR52A1	23538	broad.mit.edu	37	11	5173072	5173072	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:5173072G>T	ENST00000380367.1	-	2	945	c.528C>A	c.(526-528)gtC>gtA	p.V176V	OR52A1_ENST00000328942.1_Silent_p.V176V			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	176					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.V176V(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGGGAGATGACTGTTGTGT	0.433000													4	53					0.00024832	0.000328157	0.150653	1	0
ZNF616	90317	broad.mit.edu	37	19	52618394	52618394	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:52618394T>A	ENST00000600228.1	-	4	2284	c.2023A>T	c.(2023-2025)Aac>Tac	p.N675Y	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N675Y(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GCAGTGAGGTTTGAGCTCCGT	0.403000													11	140					0	0	0.361761	0	0
RYR2	6262	broad.mit.edu	37	1	237811774	237811774	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237811774C>T	ENST00000366574.2	+	49	7690	c.7373C>T	c.(7372-7374)gCg>gTg	p.A2458V	RYR2_ENST00000542537.1_Missense_Mutation_p.A2442V|RYR2_ENST00000360064.6_Missense_Mutation_p.A2456V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2458	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A2456V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATGTCTGCGGGGTTTTGC	0.458000													3	11					0	0	0.150653	0	0
CPT1C	126129	broad.mit.edu	37	19	50216267	50216267	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:50216267G>T	ENST00000392518.4	+	19	2544	c.2172G>T	c.(2170-2172)atG>atT	p.M724I	CPT1C_ENST00000354199.5_Missense_Mutation_p.M635I|CPT1C_ENST00000598293.1_Missense_Mutation_p.M724I|CPT1C_ENST00000405931.2_Missense_Mutation_p.M713I|CPT1C_ENST00000323446.5_Missense_Mutation_p.M724I	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	724					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.M724I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATATCTTCATGGGGGATGGCA	0.488000													15	188					0.006122	0.00717859	0.539581	1	0
ARIH1	25820	broad.mit.edu	37	15	72873191	72873191	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:72873191G>T	ENST00000379887.4	+	12	1649	c.1335G>T	c.(1333-1335)atG>atT	p.M445I	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	445					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.M445I(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TGGAGGAGATGCAGCAGCACA	0.478000													10	55					2.17888e-05	3.19366e-05	0.335167	1	0
FAT1	2195	broad.mit.edu	37	4	187629033	187629033	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:187629033C>A	ENST00000441802.2	-	2	2158	c.1949G>T	c.(1948-1950)gGa>gTa	p.G650V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	650	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.G650V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAAATTTTCTCCATCTGTAGC	0.443000										HNSCC(5;0.00058)			4	67					0.150653	0.156761	0.150653	1	0
CHRM3	1131	broad.mit.edu	37	1	240071400	240071400	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:240071400C>A	ENST00000255380.4	+	5	1428	c.649C>A	c.(649-651)Cct>Act	p.P217T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	217					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.P217T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GAGAACTGTGCCTCCGGGAGA	0.488000													22	121					8.04996e-18	1.61981e-17	0.608945	1	0
GPR158	57512	broad.mit.edu	37	10	25887285	25887285	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:25887285G>A	ENST00000376351.3	+	11	3089	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	910						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.K910K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAAGCGCCAAGGAGAAGACTC	0.473000													15	95					0	0	0.479597	0	0
ALPK1	80216	broad.mit.edu	37	4	113351864	113351864	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:113351864G>T	ENST00000458497.1	+	11	1440	c.1161G>T	c.(1159-1161)ggG>ggT	p.G387G	ALPK1_ENST00000177648.9_Silent_p.G387G|ALPK1_ENST00000504176.2_Silent_p.G309G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	387							ATP binding|protein serine/threonine kinase activity	p.G387G(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AAGCAATGGGGAAGCTGTACA	0.498000													6	21					0.0215528	0.0235957	0.217242	1	0
ZNF320	162967	broad.mit.edu	37	19	53383932	53383932	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:53383932G>T	ENST00000595635.1	-	8	1948	c.1447C>A	c.(1447-1449)Ctc>Atc	p.L483I	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.L483I|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L483I(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTGCAAGGAGTGACCTCAGA	0.383000													12	54					0.000978159	0.00122006	0.387290	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55330026	55330026	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:55330026C>A	ENST00000391728.4	+	3	360	c.327C>A	c.(325-327)ccC>ccA	p.P109P	KIR3DL1_ENST00000538269.1_Silent_p.P109P|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000541392.1_Silent_p.P109P|KIR3DL1_ENST00000402254.2_Silent_p.P109P|KIR3DL1_ENST00000326542.7_Silent_p.P109P	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.P109P(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGTCGGCACCCAGCAACCCCG	0.602000													16	99					3.32936e-07	5.43905e-07	0.539581	1	0
TNS1	7145	broad.mit.edu	37	2	218700935	218700935	+	Splice_Site	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:218700935C>G	ENST00000171887.4	-	18	3085		c.e18-1		TNS1_ENST00000430930.1_Splice_Site|TNS1_ENST00000419504.1_Splice_Site	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1							cytoplasm|cytoskeleton|focal adhesion	actin binding	p.?(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCCTGTACCCCTGGGAGGAAA	0.572000													5	35					0	0	0.184627	0	0
BMP10	27302	broad.mit.edu	37	2	69098246	69098246	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:69098246G>T	ENST00000295379.1	-	1	403	c.245C>A	c.(244-246)cCa>cAa	p.P82Q		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	82					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	p.P82Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CATGTACTCTGGTGGGTCCAC	0.458000													9	69					0.00448238	0.00532629	0.307466	1	0
OR8K5	219453	broad.mit.edu	37	11	55927529	55927529	+	Silent	SNP	G	G	T	rs147577134		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:55927529G>T	ENST00000313447.1	-	1	264	c.265C>A	c.(265-267)Cga>Aga	p.R89R		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89R(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATAGTATTTCGATCCACAACA	0.393000													8	68					7.48243e-07	1.20365e-06	0.335167	1	0
ZNF611	81856	broad.mit.edu	37	19	53208789	53208789	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:53208789C>T	ENST00000543227.1	-	6	1793	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	ZNF611_ENST00000602162.1_Missense_Mutation_p.E438K|ZNF611_ENST00000319783.1_Missense_Mutation_p.E507K|ZNF611_ENST00000595798.1_Missense_Mutation_p.E438K|ZNF611_ENST00000453741.2_Missense_Mutation_p.E438K|ZNF611_ENST00000540744.1_Missense_Mutation_p.E507K	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E507K(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TAAGGTTGCTCCCCAGTATGA	0.358000													36	113					0	0	0.779181	0	0
PRELP	5549	broad.mit.edu	37	1	203452913	203452913	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:203452913G>T	ENST00000343110.2	+	2	728	c.601G>T	c.(601-603)Gat>Tat	p.D201Y		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	201	Poly-Leu.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.D201Y(3)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTGCTCCTGGATCTCCAGCA	0.607000													16	97					6.72482e-11	1.26501e-10	0.479597	1	0
DOK1	1796	broad.mit.edu	37	2	74782721	74782721	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:74782721C>T	ENST00000233668.5	+	3	1049	c.380C>T	c.(379-381)gCg>gTg	p.A127V	DOK1_ENST00000340004.6_Missense_Mutation_p.A127V|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_5'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	127					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	p.A127V(1)		endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGGACTCTGGCGCCTACCGAT	0.592000													4	36					0	0	0.150653	0	0
SPESP1	246777	broad.mit.edu	37	15	69238614	69238614	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:69238614C>G	ENST00000310673.3	+	2	895	c.741C>G	c.(739-741)aaC>aaG	p.N247K	NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	247					multicellular organismal development	acrosomal vesicle		p.N247K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						ACACCAGCAACCCAGCATATA	0.363000													5	44					0	0	0.217242	0	0
TRPS1	7227	broad.mit.edu	37	8	116427108	116427108	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:116427108G>T	ENST00000395715.3	-	7	3605	c.3028C>A	c.(3028-3030)Cca>Aca	p.P1010T	TRPS1_ENST00000520276.1_Missense_Mutation_p.P1001T|TRPS1_ENST00000220888.5_Missense_Mutation_p.P997T|TRPS1_ENST00000519076.1_Missense_Mutation_p.P751T	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	997	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P997T(1)|p.P1010T(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGGGGAGTGGAATTTCTCTC	0.483000									Langer-Giedion syndrome				10	120					0.0931896	0.099846	0.411799	1	0
EPHA7	2045	broad.mit.edu	37	6	94120574	94120574	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:94120574G>T	ENST00000369303.4	-	3	661	c.477C>A	c.(475-477)gaC>gaA	p.D159E	EPHA7_ENST00000369297.1_Missense_Mutation_p.D159E	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	159						integral to plasma membrane	ATP binding|ephrin receptor activity	p.D159_L160>EI(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTCACCAAGGTCACCTTGGG	0.403000													5	80					3.59834e-05	5.15003e-05	0.217242	1	0
PAX5	5079	broad.mit.edu	37	9	36966657	36966657	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:36966657C>A	ENST00000358127.4	-	6	743	c.669G>T	c.(667-669)caG>caT	p.Q223H	PAX5_ENST00000522003.1_Missense_Mutation_p.Q115H|PAX5_ENST00000446742.1_Missense_Mutation_p.Q157H|PAX5_ENST00000520281.1_Missense_Mutation_p.Q180H|PAX5_ENST00000377852.2_Missense_Mutation_p.Q223H|PAX5_ENST00000414447.1_Missense_Mutation_p.Q180H|PAX5_ENST00000377853.2_Missense_Mutation_p.Q223H|PAX5_ENST00000377847.2_Missense_Mutation_p.Q223H|PAX5_ENST00000520154.1_Missense_Mutation_p.Q223H|PAX5_ENST00000523145.1_Missense_Mutation_p.Q115H|PAX5_ENST00000523241.1_Missense_Mutation_p.Q223H	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	223					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)|p.Q223H(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CTCCCCGCATCTGCTTCCGGA	0.587000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								3	38					0.00024832	0.000328157	0.150653	1	0
PER2	8864	broad.mit.edu	37	2	239161618	239161618	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:239161618C>T	ENST00000254657.3	-	19	3325	c.3046G>A	c.(3046-3048)Gca>Aca	p.A1016T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1016					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.A1016T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCTACAGCTGCTGTCTCTGTG	0.637000													13	73					0	0	0.457914	0	0
KALRN	8997	broad.mit.edu	37	3	124281868	124281868	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:124281868G>A	ENST00000360013.3	+	34	5235	c.5108G>A	c.(5107-5109)aGc>aAc	p.S1703N	KALRN_ENST00000393496.1_Missense_Mutation_p.S76N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1703	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.S1703N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTGGTCCCCAGCAGCGCCCTG	0.652000													11	41					0	0	0.361761	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660267	77660267	+	Missense_Mutation	SNP	G	G	T	rs140762344	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:77660267G>T	ENST00000296043.6	+	5	1894	c.941G>T	c.(940-942)cGg>cTg	p.R314L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	314					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.R313L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TATGACACCCGGAGGGGAGTC	0.547000													9	49					1.76689e-08	3.09206e-08	0.335167	1	0
ZBED1	9189	broad.mit.edu	37	X	2407023	2407023	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:2407023C>A	ENST00000381223.4	-	2	1941	c.1738G>T	c.(1738-1740)Gtg>Ttg	p.V580L	ZBED1_ENST00000381222.2_Missense_Mutation_p.V580L|ZBED1_ENST00000381218.3_Missense_Mutation_p.V580L|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	580						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.V580L(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGCCAAGCACCTTCTGGGAC	0.627000													5	45					0.0215528	0.0235957	0.217242	1	0
HK3	3101	broad.mit.edu	37	5	176314464	176314464	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:176314464G>T	ENST00000292432.5	-	11	1679	c.1588C>A	c.(1588-1590)Cct>Act	p.P530T		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	530	Catalytic.			PD -> LT (in Ref. 4; AAC50422).	glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.P530T(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCGTCAGGGGTGGCCCGG	0.672000													5	32					1.23904e-05	1.83473e-05	0.184627	1	0
RBM44	375316	broad.mit.edu	37	2	238726448	238726448	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:238726448G>T	ENST00000316997.4	+	3	1021	c.889G>T	c.(889-891)Ggc>Tgc	p.G297C	RBM44_ENST00000409864.1_Missense_Mutation_p.G297C|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	296							nucleotide binding|RNA binding	p.G297C(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTATTTGATGGCAGTGTACT	0.333000													3	30					0.00909568	0.0104325	0.150653	1	0
SLC1A3	6507	broad.mit.edu	37	5	36608588	36608588	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:36608588A>T	ENST00000265113.4	+	2	539	c.63A>T	c.(61-63)ggA>ggT	p.G21G	SLC1A3_ENST00000381918.3_Silent_p.G21G|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	21					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.G21G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TCCAGCAGGGAGTCCGTAAAC	0.448000													17	66					0	0	0.520397	0	0
ADCK3	56997	broad.mit.edu	37	1	227152708	227152708	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:227152708A>T	ENST00000366779.1	+	8	2956	c.185A>T	c.(184-186)gAt>gTt	p.D62V	ADCK3_ENST00000366775.1_Intron|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.D62V|ADCK3_ENST00000366776.1_Intron|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366778.1_Missense_Mutation_p.D10V			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	62					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	p.D62V(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CAGGGTCAGGATAAACATGAA	0.582000													5	24					0	0	0.184627	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477060	110477060	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:110477060G>T	ENST00000378402.5	+	49	8103	c.7999G>T	c.(7999-8001)Gcc>Tcc	p.A2667S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2667					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.A2669S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAATGGAGGTGCCCTTCAGTT	0.448000										HNSCC(38;0.096)			9	77					7.48243e-07	1.20365e-06	0.335167	1	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280335	39280335	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:39280335C>A	ENST00000394014.1	-	1	84	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	14	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament		p.G14C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGCCACAGCCCTGGTCAGAG	0.617000													11	63					0.0135373	0.0154349	0.411799	1	0
HYAL3	8372	broad.mit.edu	37	3	50332756	50332756	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:50332756C>A	ENST00000336307.1	-	2	550	c.278G>T	c.(277-279)gGg>gTg	p.G93V	HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Missense_Mutation_p.G93V|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000450982.1_Missense_Mutation_p.G93V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	93					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	p.G93V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGGATGCCCCCATTGTGAGC	0.587000													17	82					1.67942e-08	2.9569e-08	0.539581	1	0
OR6X1	390260	broad.mit.edu	37	11	123624810	123624810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:123624810G>T	ENST00000327930.2	-	1	443	c.417C>A	c.(415-417)tgC>tgA	p.C139*		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C139*(2)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCAGCTGCAGGCAGAGTTTGC	0.522000													3	39					0.00024832	0.000328157	0.150653	1	0
WSCD2	9671	broad.mit.edu	37	12	108603991	108603991	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:108603991G>C	ENST00000332082.4	+	5	1409	c.591G>C	c.(589-591)atG>atC	p.M197I	WSCD2_ENST00000549903.1_Missense_Mutation_p.M197I|WSCD2_ENST00000547525.1_Missense_Mutation_p.M197I|WSCD2_ENST00000261400.3_Missense_Mutation_p.M197I			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	197	WSC 1.					integral to membrane		p.M197I(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGTGCGACATGGAGTGCAAGG	0.682000													7	25					0	0	0.248553	0	0
PSG2	5670	broad.mit.edu	37	19	43579540	43579540	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:43579540G>A	ENST00000406487.1	-	3	773	c.675C>T	c.(673-675)gcC>gcT	p.A225A		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	225	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region		p.A225A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CACTGCGGCTGGCACTCCCTG	0.527000													29	263					0	0	0.740014	0	0
SRCAP	10847	broad.mit.edu	37	16	30750714	30750714	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:30750714G>T	ENST00000262518.4	+	34	9738	c.9353G>T	c.(9352-9354)cGc>cTc	p.R3118L	SRCAP_ENST00000395059.2_Missense_Mutation_p.R3056L|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2960L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3118					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.R3118L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAAAACTGCGCTCGACCCGG	0.597000													4	40					2.56e-06	3.96886e-06	0.150653	1	0
TRIM22	10346	broad.mit.edu	37	11	5729478	5729478	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:5729478G>T	ENST00000379965.3	+	6	1126	c.849G>T	c.(847-849)ctG>ctT	p.L283L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	283	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.L283L(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TACCAGATCTGAGTGGGATGC	0.423000													5	26					0.000602214	0.000761004	0.184627	1	0
PPP1R13L	10848	broad.mit.edu	37	19	45901276	45901276	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:45901276C>A	ENST00000418234.2	-	3	263	c.185G>T	c.(184-186)gGa>gTa	p.G62V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G62V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	62	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	p.G62V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGAAGGGGGTCCGGCCTGCGG	0.627000													6	33					0.00116845	0.00143417	0.217242	1	0
BTN1A1	696	broad.mit.edu	37	6	26502093	26502093	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:26502093G>T	ENST00000244513.6	+	2	421	c.355G>T	c.(355-357)Gac>Tac	p.D119Y		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	119	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity	p.D119Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGTCTCTGACGACGGGGAGTA	0.622000													5	23					0.014758	0.0164057	0.184627	1	0
PHF20L1	51105	broad.mit.edu	37	8	133829707	133829707	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:133829707G>T	ENST00000395386.2	+	12	1795	c.1496G>T	c.(1495-1497)aGg>aTg	p.R499M	PHF20L1_ENST00000315808.10_Missense_Mutation_p.R499M|PHF20L1_ENST00000395383.1_Missense_Mutation_p.R503M|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_Missense_Mutation_p.R369M|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R474M	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	499							nucleic acid binding|zinc ion binding	p.R499M(1)|p.R473M(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAATGTCCCAGGGCAGAAAAA	0.463000													8	32					1.12685e-05	1.68808e-05	0.307466	1	0
ARID5A	10865	broad.mit.edu	37	2	97217799	97217799	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:97217799A>T	ENST00000454558.2	+	7	2507	c.1330A>T	c.(1330-1332)Act>Tct	p.T444S	ARID5A_ENST00000357485.3_Missense_Mutation_p.T512S			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	512					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.T512S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCTGAACTTCACTGGCACCCC	0.716000													6	58					0	0	0.248553	0	0
FLG	2312	broad.mit.edu	37	1	152278945	152278945	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:152278945A>G	ENST00000368799.1	-	3	8452	c.8417T>C	c.(8416-8418)gTa>gCa	p.V2806A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2806	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.V2806A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGCTATCTACCGAATGCTC	0.597000									Ichthyosis				20	318					0	0	0.847076	0	0
COL11A1	1301	broad.mit.edu	37	1	103352510	103352510	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:103352510C>A	ENST00000358392.2	-	63	5064	c.4747G>T	c.(4747-4749)Gat>Tat	p.D1583Y	COL11A1_ENST00000370096.3_Missense_Mutation_p.D1571Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.D1455Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D1532Y	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1571	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.D1571Y(1)|p.D1583Y(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCGAGTAATCAAGAATATTA	0.408000													5	97					0.217242	0.22264	0.217242	1	0
KRT73	319101	broad.mit.edu	37	12	53012247	53012247	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:53012247G>C	ENST00000305748.3	-	1	96	c.62C>G	c.(61-63)tCc>tGc	p.S21C		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	21	Gly-rich.|Head.					keratin filament	structural molecule activity	p.S21C(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGCACAGCGGAGCAGCCGCT	0.637000													4	46					0	0	0.184627	0	0
PCF11	51585	broad.mit.edu	37	11	82882867	82882867	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:82882867G>T	ENST00000298281.4	+	9	4120	c.3668G>T	c.(3667-3669)aGt>aTt	p.S1223I		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1223					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.S1223I(1)|p.S1322I(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAGGTTCTGAGTGGTGTTGCT	0.323000													7	55					8.12818e-05	0.000111763	0.248553	1	0
ADAM19	8728	broad.mit.edu	37	5	156915444	156915444	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:156915444G>T	ENST00000257527.4	-	21	2457	c.2379C>A	c.(2377-2379)ccC>ccA	p.P793P	ADAM19_ENST00000517905.1_Silent_p.P793P|ADAM19_ENST00000430702.2_Silent_p.P526P|ADAM19_ENST00000394020.1_Silent_p.P795P	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	793					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.P793P(1)|p.P794P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATCTGGAGGGGGCCGGGGAG	0.602000													6	32					0.00198382	0.00240179	0.248553	1	0
ABCC9	10060	broad.mit.edu	37	12	22086820	22086820	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:22086820G>T	ENST00000261200.4	-	2	179	c.180C>A	c.(178-180)caC>caA	p.H60Q	ABCC9_ENST00000345162.2_Missense_Mutation_p.H60Q|ABCC9_ENST00000326684.4_Missense_Mutation_p.H60Q|ABCC9_ENST00000538350.1_Missense_Mutation_p.H60Q|ABCC9_ENST00000261201.4_Missense_Mutation_p.H60Q	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	60					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.H60Q(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCCATGTGTTGTGGTGAATTT	0.403000													6	53					0.217242	0.22264	0.217242	1	0
GRB7	2886	broad.mit.edu	37	17	37900435	37900435	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:37900435A>G	ENST00000309156.4	+	7	1033	c.776A>G	c.(775-777)tAt>tGt	p.Y259C	GRB7_ENST00000309185.3_Missense_Mutation_p.Y259C|GRB7_ENST00000394211.3_Missense_Mutation_p.Y259C|GRB7_ENST00000394204.1_Missense_Mutation_p.Y259C|GRB7_ENST00000445327.2_Missense_Mutation_p.Y282C|GRB7_ENST00000394209.2_Missense_Mutation_p.Y259C	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	259	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	p.Y259C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTGGCCTCTATTACTCCACC	0.562000													6	216					0	0	0.217242	0	0
TRPS1	7227	broad.mit.edu	37	8	116616676	116616676	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:116616676G>A	ENST00000395715.3	-	4	2097	c.1520C>T	c.(1519-1521)aCa>aTa	p.T507I	TRPS1_ENST00000520276.1_Missense_Mutation_p.T498I|TRPS1_ENST00000220888.5_Missense_Mutation_p.T494I|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.T494I	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	494					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T494I(1)|p.T507I(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTGGTCATTGTCTCTCCTTC	0.458000									Langer-Giedion syndrome				4	110					0	0	0.150653	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451742	37451742	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:37451742C>G	ENST00000374660.1	+	17	1899	c.1800C>G	c.(1798-1800)gcC>gcG	p.A600A	ANKRD30A_ENST00000602533.1_Silent_p.A600A|ANKRD30A_ENST00000361713.1_Silent_p.A600A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	656						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A600A(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CAAATAAAGCCTTGGAATTGA	0.318000													12	57					0	0	0.435327	0	0
ZNF346	23567	broad.mit.edu	37	5	176489059	176489059	+	Splice_Site	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:176489059C>T	ENST00000503039.1	+	7	783	c.778_splice	c.e7-1	p.A260_splice	ZNF346_ENST00000503425.1_Splice_Site_p.A203_splice|ZNF346_ENST00000358149.3_Splice_Site_p.A235_splice|ZNF346_ENST00000511834.1_Splice_Site_p.A251_splice|ZNF346_ENST00000506693.1_Splice_Site_p.A137_splice|ZNF346_ENST00000261948.4_Splice_Site_p.A260_splice|ZNF346_ENST00000512315.1_Splice_Site_p.A59_splice			Q9UL40	ZN346_HUMAN	zinc finger protein 346	235						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	p.A235V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGTTTCAGCTGGAAAGGGC	0.438000													5	100					0	0	0.217242	0	0
SORL1	6653	broad.mit.edu	37	11	121429299	121429299	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:121429299G>T	ENST00000260197.7	+	20	2792		c.e20-1			NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.?(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATTTTCGCTAGGGTGATGTTC	0.473000													11	71					0.000219431	0.000296425	0.457914	1	0
OR6Y1	391112	broad.mit.edu	37	1	158517516	158517516	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:158517516C>A	ENST00000302617.3	-	1	379	c.380G>T	c.(379-381)cGc>cTc	p.R127L		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R127L(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCTACATAGCGGTCAAAGGC	0.468000													5	40					1.06961e-07	1.8141e-07	0.278610	1	0
RBP2	5948	broad.mit.edu	37	3	139172010	139172010	+	Splice_Site	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:139172010T>A	ENST00000232217.2	-	4	411		c.e4-2		RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular						epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	p.?(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	GGTCAGCTCCTGCAACGTCAG	0.572000													5	20					0	0	0.184627	0	0
SPTAN1	6709	broad.mit.edu	37	9	131369914	131369914	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:131369914G>T	ENST00000372739.3	+	32	4188	c.4078G>T	c.(4078-4080)Ggg>Tgg	p.G1360W	SPTAN1_ENST00000372731.4_Missense_Mutation_p.G1360W|SPTAN1_ENST00000358161.5_Missense_Mutation_p.G1360W	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1360					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.G1360W(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGAATACGGGGGTTGGTGTC	0.522000													11	92					6.40141e-05	8.96198e-05	0.387290	1	0
GPR87	53836	broad.mit.edu	37	3	151012145	151012145	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:151012145C>G	ENST00000260843.4	-	3	1353	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	297						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.E297*(1)|p.E297Q(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGTAATTTCTTTGCAGTAA	0.333000													5	73					0	0	0.217242	0	0
ITGAL	3683	broad.mit.edu	37	16	30532894	30532894	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:30532894G>A	ENST00000356798.6	+	31	3601	c.3421G>A	c.(3421-3423)Gag>Aag	p.E1141K	ITGAL_ENST00000433423.2_Missense_Mutation_p.E375K|ITGAL_ENST00000358164.5_Missense_Mutation_p.E1057K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1141					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.E1141K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGAAGACTCTGAGCAGCTGGC	0.552000													5	55					0	0	0.217242	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254257	39254257	+	Missense_Mutation	SNP	G	G	T	rs142487897	by1000genomes	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:39254257G>T	ENST00000333822.4	-	1	136	c.80C>A	c.(79-81)cCc>cAc	p.P27H		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	27	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ACAGCAGCTGGGGCAGCAGCA	0.622000													3	32					0.115264	0.121914	0.115264	1	0
NOTCH4	4855	broad.mit.edu	37	6	32188027	32188027	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:32188027G>T	ENST00000375023.3	-	7	1332	c.1194C>A	c.(1192-1194)agC>agA	p.S398R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	398	EGF-like 10.				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	p.S398R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCACGGCTGGCTCAGACACA	0.622000													12	33					2.27111e-07	3.77429e-07	0.411799	1	0
HGF	3082	broad.mit.edu	37	7	81334976	81334976	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:81334976C>A	ENST00000222390.5	-	16	2077	c.1851G>T	c.(1849-1851)tgG>tgT	p.W617C	HGF_ENST00000457544.2_Missense_Mutation_p.W612C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	617	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.W617C(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CAGTGTAGCCCCAGCCATAAA	0.353000													4	56					0.00024832	0.000328157	0.150653	1	0
RGS4	5999	broad.mit.edu	37	1	163044417	163044417	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:163044417T>A	ENST00000531057.1	+	5	463	c.339T>A	c.(337-339)taT>taA	p.Y113*	RGS4_ENST00000367909.6_3'UTR|RGS4_ENST00000367906.3_3'UTR|RGS4_ENST00000421743.2_3'UTR|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000527809.1_3'UTR			P49798	RGS4_HUMAN	regulator of G-protein signaling 4	0	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AGGCCAAATATTGATCTGTAT	0.448000													7	15					0	0	0.278610	0	0
PXDNL	137902	broad.mit.edu	37	8	52384864	52384864	+	Splice_Site	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:52384864T>C	ENST00000356297.4	-	8	795	c.694_splice	c.e8-1	p.Q232_splice	PXDNL_ENST00000543296.1_Splice_Site_p.Q232_splice	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	232	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.Q232R(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCGGGGGCTCTCTGCAACAAA	0.413000													3	40					0	0	0.115264	0	0
KMO	8564	broad.mit.edu	37	1	241725627	241725627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:241725627G>T	ENST00000366559.4	+	7	921	c.610G>T	c.(610-612)Gga>Tga	p.G204*	KMO_ENST00000366557.4_Nonsense_Mutation_p.G204*|KMO_ENST00000366558.3_Nonsense_Mutation_p.G204*	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	204					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	p.G204*(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ACCTAAGAACGGAGATGTAAG	0.473000													17	127					8.34094e-07	1.33063e-06	0.575678	1	0
ZBTB22	9278	broad.mit.edu	37	6	33283189	33283189	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:33283189C>G	ENST00000431845.2	-	2	1656	c.1505G>C	c.(1504-1506)cGg>cCg	p.R502P	ZBTB22_ENST00000418724.1_Missense_Mutation_p.R502P	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R502P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GTTCACGTGCCGGTCCCGCAT	0.562000													12	96					0	0	0.411799	0	0
CHRNB1	1140	broad.mit.edu	37	17	7350393	7350393	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:7350393A>G	ENST00000306071.2	+	5	452	c.385A>G	c.(385-387)Att>Gtt	p.I129V	CHRNB1_ENST00000536404.2_Missense_Mutation_p.I57V|CHRNB1_ENST00000576360.1_Missense_Mutation_p.I57V	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	129					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	p.I129V(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GGCTCTGGACATTAGCGTCGT	0.652000													5	46					0	0	0.217242	0	0
TRPC5	7224	broad.mit.edu	37	X	111155830	111155830	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:111155830G>A	ENST00000262839.2	-	3	1507	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	197					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.L197L(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGATGTTCAGTCGGGAGCGA	0.567000													18	50					0	0	0.520397	0	0
CD109	135228	broad.mit.edu	37	6	74497100	74497100	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:74497100G>T	ENST00000437994.2	+	21	2912	c.2481G>T	c.(2479-2481)ctG>ctT	p.L827L	CD109_ENST00000287097.5_Silent_p.L827L|CD109_ENST00000422508.2_Silent_p.L750L	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	827						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.L827L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAACACATCTGGGAGAAATTC	0.448000													7	42					0.00307968	0.00368986	0.278610	1	0
GBP4	115361	broad.mit.edu	37	1	89662871	89662871	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:89662871C>A	ENST00000355754.6	-	2	254	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	53	Poly-Val.					cytoplasm	GTP binding|GTPase activity	p.V53L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ACCACCACCACGGGCTGAGAA	0.488000													12	29					0.010729	0.0122815	0.387290	1	0
FKBP1B	2281	broad.mit.edu	37	2	24276809	24276809	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:24276809G>A	ENST00000380991.4	+	2	224	c.75G>A	c.(73-75)gtG>gtA	p.V25V	FKBP1B_ENST00000380986.4_Silent_p.V25V|FKBP1B_ENST00000452109.1_5'UTR			P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa	25	PPIase FKBP-type.				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding	p.V25V(2)		lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGTGTGGTGCACTACACAG	0.567000													4	47					0	0	0.150653	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6089666	6089666	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:6089666C>G	ENST00000199389.6	-	3	434	c.288G>C	c.(286-288)caG>caC	p.Q96H	EIF2AK1_ENST00000536084.1_Intron	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	96					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	p.Q96H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TGATAAACGTCTGGCAAAGTA	0.318000													6	41					0	0	0.248553	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28306945	28306945	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:28306945C>A	ENST00000284987.5	-	4	1650	c.1529G>T	c.(1528-1530)gGc>gTc	p.G510V	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	510	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G510V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GACATCCATGCCGGGACACAC	0.612000													8	32					0.000157383	0.000213354	0.278610	1	0
KIF5A	3798	broad.mit.edu	37	12	57975705	57975705	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:57975705G>T	ENST00000455537.2	+	26	3236	c.2962G>T	c.(2962-2964)Gct>Tct	p.A988S	KIF5A_ENST00000286452.5_Missense_Mutation_p.A899S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	988	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.A988S(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGGCCCCTTGGCTTCCTACCA	0.537000													7	33					1.06961e-07	1.8141e-07	0.278610	1	0
HPS5	11234	broad.mit.edu	37	11	18313051	18313051	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:18313051C>A	ENST00000396253.3	-	15	2498	c.2036G>T	c.(2035-2037)aGt>aTt	p.S679I	HPS5_ENST00000438420.2_Missense_Mutation_p.S679I|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.S793I	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	793						cytosol		p.S793I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AAGCTTGATACTCTCCTTCGC	0.388000									Hermansky-Pudlak syndrome				5	27					0.000602214	0.000761004	0.184627	1	0
NPHS1	4868	broad.mit.edu	37	19	36340177	36340177	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36340177G>T	ENST00000378910.5	-	7	800	c.801C>A	c.(799-801)gcC>gcA	p.A267A	NPHS1_ENST00000353632.6_Silent_p.A267A	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	267	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.A267A(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACCCCCTCGGGCCACGCACG	0.662000													5	37					0.000602214	0.000761004	0.184627	1	0
UQCRC1	7384	broad.mit.edu	37	3	48637934	48637934	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:48637934G>A	ENST00000203407.5	-	10	1610	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	398					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	p.A398A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GAGATACCAGGGCATTTCTGA	0.562000													3	37					0	0	0.150653	0	0
TMEM67	91147	broad.mit.edu	37	8	94798502	94798502	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:94798502C>T	ENST00000453321.3	+	13	1398	c.1340C>T	c.(1339-1341)gCa>gTa	p.A447V	TMEM67_ENST00000409623.3_Missense_Mutation_p.A366V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	447					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	p.A437V(1)|p.A447V(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTAGTGGATGCAGTAAGTGGA	0.338000													4	97					0	0	0.184627	0	0
ACVR1B	91	broad.mit.edu	37	12	52380697	52380697	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:52380697G>T	ENST00000257963.4	+	7	1309	c.1232G>T	c.(1231-1233)tGg>tTg	p.W411L	ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000415850.2_Missense_Mutation_p.W411L|ACVR1B_ENST00000542485.1_Missense_Mutation_p.W359L|ACVR1B_ENST00000541224.1_Missense_Mutation_p.W452L|ACVR1B_ENST00000426655.2_Missense_Mutation_p.W411L	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	411	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.W411L(1)|p.W452L(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTTGTATATTGGGAGATTGCT	0.428000													11	83					2.80697e-09	5.05781e-09	0.387290	1	0
OR2C3	81472	broad.mit.edu	37	1	247694964	247694964	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:247694964G>T	ENST00000366487.3	-	2	1211	c.850C>A	c.(850-852)Cct>Act	p.P284T	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P283T(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TTCAGCGCAGGAGTGACTACG	0.532000													5	41					3.59834e-05	5.15003e-05	0.217242	1	0
LRP1B	53353	broad.mit.edu	37	2	141625694	141625694	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:141625694C>A	ENST00000389484.3	-	26	5279	c.4308G>T	c.(4306-4308)gaG>gaT	p.E1436D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1436					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E1436D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTATCCTTTTCTCAAAGTGGT	0.373000										TSP Lung(27;0.18)			9	56					7.48243e-07	1.20365e-06	0.335167	1	0
DZIP1	22873	broad.mit.edu	37	13	96272154	96272154	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:96272154C>A	ENST00000347108.3	-	8	1590	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	DZIP1_ENST00000361396.2_Missense_Mutation_p.K386N|DZIP1_ENST00000361156.3_Missense_Mutation_p.K386N|DZIP1_ENST00000376829.2_Missense_Mutation_p.K386N			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	386					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.K386N(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CCTTCTCTTTCTTGTGTTCTT	0.333000													25	96					2.41591e-17	4.8444e-17	0.681144	1	0
TFEC	22797	broad.mit.edu	37	7	115580691	115580691	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:115580691G>T	ENST00000265440.7	-	8	1138	c.958C>A	c.(958-960)Cct>Act	p.P320T	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.P291T|TFEC_ENST00000457268.1_Missense_Mutation_p.P253T	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	320	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.P320T(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GATAGCAGAGGATCTGTTCCA	0.403000													14	77					0.00185496	0.00227198	0.435327	1	0
CDH11	1009	broad.mit.edu	37	16	64981755	64981755	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:64981755G>C	ENST00000268603.4	-	13	2757	c.2142C>G	c.(2140-2142)agC>agG	p.S714R	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.S588R	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	714					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S714R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGACATCCACGCTGTTGGGCG	0.502000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			5	80					0	0	0.184627	0	0
SCP2	6342	broad.mit.edu	37	1	53480639	53480639	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:53480639G>T	ENST00000371514.3	+	12	1327	c.1159G>T	c.(1159-1161)Gct>Tct	p.A387S	SCP2_ENST00000408941.3_5'UTR|SCP2_ENST00000371509.4_Missense_Mutation_p.A343S|SCP2_ENST00000435345.2_Intron|SCP2_ENST00000430330.2_5'UTR|SCP2_ENST00000528311.1_Missense_Mutation_p.A306S|SCP2_ENST00000407246.2_Missense_Mutation_p.A363S	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	387					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	p.A387S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TGCAAAGGTGGCTCTGCAGCA	0.512000													10	37					3.86212e-05	5.48003e-05	0.361761	1	0
MFAP1	4236	broad.mit.edu	37	15	44102041	44102041	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:44102041C>A	ENST00000267812.3	-	7	1191	c.959G>T	c.(958-960)cGg>cTg	p.R320L		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	320						microfibril		p.R320L(1)		breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCCGTTTGCCCGAAGTTCAGC	0.443000													9	131					2.80697e-09	5.05781e-09	0.387290	1	0
ATP8A2	51761	broad.mit.edu	37	13	26128042	26128042	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:26128042C>A	ENST00000381655.2	+	12	1311	c.1169C>A	c.(1168-1170)gCc>gAc	p.A390D	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A350D	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	350					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A390D(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TATACTCAAGCCCTTTTCATA	0.363000													15	67					2.31682e-05	3.3787e-05	0.479597	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416310	105416310	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:105416310G>C	ENST00000333244.5	-	7	5597	c.5478C>G	c.(5476-5478)ccC>ccG	p.P1826P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1826						nucleus		p.P1826P(2)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTGAACTTGGGCATTTTGA	0.612000													19	320					0	0	0.575678	0	0
SPDYE1	285955	broad.mit.edu	37	7	44046939	44046939	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:44046939G>A	ENST00000258704.3	+	5	842	c.705G>A	c.(703-705)aaG>aaA	p.K235K	POLR2J4_ENST00000427076.1_RNA|AC004951.6_ENST00000447643.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	235								p.K235K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TGTATGGGAAGAACCGCTCTC	0.542000													24	158					0	0	0.654019	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801697	185801697	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:185801697C>A	ENST00000302277.6	+	4	2168	c.1574C>A	c.(1573-1575)cCt>cAt	p.P525H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	525						intracellular	zinc ion binding	p.P525H(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAAGTCACTCCTCTTTTGGCT	0.373000													21	44					8.10497e-08	1.39097e-07	0.592651	1	0
UGT3A2	167127	broad.mit.edu	37	5	36037999	36037999	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:36037999C>A	ENST00000282507.3	-	6	1296	c.1195G>T	c.(1195-1197)Gtc>Ttc	p.V399F	UGT3A2_ENST00000545528.1_Missense_Mutation_p.V97F|UGT3A2_ENST00000513300.1_Missense_Mutation_p.V365F	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	399						integral to membrane	glucuronosyltransferase activity	p.V399F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTACTCGGACCATGTTTTCA	0.478000													12	86					0.000219431	0.000296425	0.457914	1	0
VWA8	23078	broad.mit.edu	37	13	42263517	42263517	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:42263517T>A	ENST00000379310.3	-	34	4172	c.4104A>T	c.(4102-4104)acA>acT	p.T1368T		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8									p.T1368T(1)									CAACAACTATTGTAGCATAAT	0.358000													5	28					0	0	0.184627	0	0
GABRG1	2565	broad.mit.edu	37	4	46099313	46099313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:46099313C>T	ENST00000295452.4	-	2	325	c.158G>A	c.(157-159)tGg>tAg	p.W53*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	53					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.W53*(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GGCCAAGACCCAGGTTTTGTT	0.358000													6	106					0	0	0.248553	0	0
USP31	57478	broad.mit.edu	37	16	23085137	23085137	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:23085137C>G	ENST00000219689.7	-	14	2240	c.2241G>C	c.(2239-2241)ctG>ctC	p.L747L		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	747					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.L747L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CATCTTCTGACAGCTGCTGCA	0.587000													4	27					0	0	0.150653	0	0
DDX41	51428	broad.mit.edu	37	5	176940389	176940389	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:176940389C>A	ENST00000507955.1	-	11	1718	c.1195G>T	c.(1195-1197)Ggg>Tgg	p.G399W		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	399					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	p.G399W(1)				all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAGCGCGCCCCACATTGATG	0.592000													22	108					3.28513e-13	6.42017e-13	0.667858	1	0
RSPO2	340419	broad.mit.edu	37	8	109094816	109094816	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:109094816A>T	ENST00000276659.5	-	2	671	c.51T>A	c.(49-51)gaT>gaA	p.D17E	RSPO2_ENST00000517781.1_Missense_Mutation_p.D17E|RSPO2_ENST00000378439.2_Missense_Mutation_p.D17E	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	17					Wnt receptor signaling pathway	extracellular region	heparin binding	p.D17E(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AGTGGCTGTAATCCATGCAGT	0.597000													8	29					0	0	0.307466	0	0
ZNF569	148266	broad.mit.edu	37	19	37904988	37904988	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:37904988C>G	ENST00000316950.6	-	6	1129	c.572G>C	c.(571-573)tGt>tCt	p.C191S	ZNF569_ENST00000392150.2_Missense_Mutation_p.C32S|ZNF569_ENST00000392149.2_Missense_Mutation_p.C191S	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C191S(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTTTTCCACAATGATTACA	0.383000													10	52					0	0	0.361761	0	0
VPS13B	157680	broad.mit.edu	37	8	100832257	100832257	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:100832257C>A	ENST00000358544.2	+	49	9087	c.8976C>A	c.(8974-8976)atC>atA	p.I2992I	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.I2967I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2992					protein transport			p.I2992I(1)|p.I2967I(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCTGCTTATCAATGAATCCA	0.423000													9	154					3.09899e-07	5.07706e-07	0.307466	1	0
UBBP4	23666	broad.mit.edu	37	17	21731573	21731573	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:21731573G>T	ENST00000578713.1	+	2	652	c.648G>T	c.(646-648)gaG>gaT	p.E216D	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR														p.E216D(2)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TCCAGAAAGAGTCGACCCTGC	0.527000													4	14					0.150653	0.156761	0.150653	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209049	140209049	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140209049C>A	ENST00000529310.1	+	1	1487	c.1373C>A	c.(1372-1374)cCc>cAc	p.P458H	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P458H|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.P458H(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGCGCAGCCCGAGTACACA	0.662000													10	45					9.70103e-10	1.77289e-09	0.361761	1	0
RYR2	6262	broad.mit.edu	37	1	237659966	237659966	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237659966A>G	ENST00000366574.2	+	20	2434	c.2117A>G	c.(2116-2118)tAc>tGc	p.Y706C	RYR2_ENST00000542537.1_Missense_Mutation_p.Y690C|RYR2_ENST00000360064.6_Missense_Mutation_p.Y704C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	706	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.Y704C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATTCTCCCTACCCTGGAGGG	0.517000													6	61					0	0	0.217242	0	0
ZNF354C	30832	broad.mit.edu	37	5	178505705	178505705	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:178505705C>G	ENST00000315475.6	+	5	578	c.272C>G	c.(271-273)aCa>aGa	p.T91R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T91R(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TGGCTTGAAACAGAAGCATTG	0.373000													4	37					0	0	0.217242	0	0
RYR2	6262	broad.mit.edu	37	1	237730037	237730037	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237730037G>T	ENST00000366574.2	+	28	3702	c.3385G>T	c.(3385-3387)Ggc>Tgc	p.G1129C	RYR2_ENST00000542537.1_Missense_Mutation_p.G1113C|RYR2_ENST00000360064.6_Missense_Mutation_p.G1127C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1129	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1127F(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGGAGCTTGGCTCAGATGA	0.532000													20	103					1.96895e-08	3.43525e-08	0.639603	1	0
ELOVL2	54898	broad.mit.edu	37	6	10989959	10989959	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:10989959G>T	ENST00000354666.3	-	7	825	c.742C>A	c.(742-744)Ctc>Atc	p.L248I		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	248					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.L248I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TTTAAGAAGAGGATGACTAAC	0.418000													9	36					1.12685e-05	1.68808e-05	0.307466	1	0
PRAMEF4	400735	broad.mit.edu	37	1	12942103	12942103	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:12942103C>A	ENST00000235349.5	-	3	517	c.447G>T	c.(445-447)ttG>ttT	p.L149F		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	149								p.L149F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGAACACAGTCAAGGGCTGCC	0.498000													38	137					5.13769e-22	1.04841e-21	0.870114	1	0
LILRB3	11025	broad.mit.edu	37	19	54721091	54721091	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:54721091G>C	ENST00000391750.1	-	14	1903	c.1767C>G	c.(1765-1767)gcC>gcG	p.A589A	LILRB3_ENST00000346401.6_Silent_p.A601A|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000424807.1_Silent_p.A589A|LILRA6_ENST00000419410.2_Silent_p.A590A|LILRB3_ENST00000407860.2_Silent_p.A606A|LILRA6_ENST00000270464.5_Silent_p.A590A|LILRA6_ENST00000440558.2_Silent_p.A589A|LILRB3_ENST00000245620.9_Silent_p.A590A			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	589					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.A589A(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CATCCTGGGAGGCTTCAGATG	0.632000													9	26					0	0	0.307466	0	0
FNDC3B	64778	broad.mit.edu	37	3	172028669	172028669	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:172028669G>C	ENST00000336824.4	+	11	1351	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E418Q|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E418Q	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	418	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane		p.E418Q(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGAGTGGGATGAGGTAAGCTT	0.313000													14	71					0	0	0.479597	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2022194	2022194	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:2022194C>T	ENST00000382722.5	-	3	783	c.421G>A	c.(421-423)Gtc>Atc	p.V141I	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.V77I|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.V141I|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.V77I|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.V141I|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.V141I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	141						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.V141I(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGTACCTGGACCGCCTCGACT	0.602000													3	10					0	0	0.115264	0	0
HAUS3	79441	broad.mit.edu	37	4	2238063	2238063	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:2238063T>A	ENST00000243706.4	-	4	1699	c.1470A>T	c.(1468-1470)gcA>gcT	p.A490A	HAUS3_ENST00000506763.1_Intron|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Silent_p.A490A	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	490					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.A490A(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAGCAGATACTGCCAACTGAT	0.358000													6	50					0	0	0.248553	0	0
FBLN5	10516	broad.mit.edu	37	14	92353602	92353602	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:92353602T>A	ENST00000267620.10	-	8	966	c.797A>T	c.(796-798)tAc>tTc	p.Y266F	FBLN5_ENST00000342058.4_Missense_Mutation_p.Y225F|FBLN5_ENST00000556154.1_Missense_Mutation_p.Y230F			Q9UBX5	FBLN5_HUMAN	fibulin 5	225	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.Y225F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GAAAGAGCCGTAGGTGTTGAC	0.522000													8	85					0	0	0.335167	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774114	140774114	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140774114G>T	ENST00000398604.2	+	1	1734	c.1734G>T	c.(1732-1734)gcG>gcT	p.A578A	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1												p.A578A(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGCCCCGCTCCG	0.657000													17	80					2.48551e-13	4.86569e-13	0.520397	1	0
NECAB1	64168	broad.mit.edu	37	8	91963393	91963393	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:91963393T>C	ENST00000417640.2	+	12	1328	c.991T>C	c.(991-993)Ttg>Ctg	p.L331L	NECAB1_ENST00000521366.1_Silent_p.L80L|NECAB1_ENST00000522820.1_Silent_p.L80L	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	331					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	p.L331L(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TGTGGATTTCTTGGAAACTCC	0.338000													5	36					0	0	0.217242	0	0
BRDT	676	broad.mit.edu	37	1	92446675	92446675	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:92446675C>A	ENST00000370389.2	+	10	2395	c.1471C>A	c.(1471-1473)Cta>Ata	p.L491I	BRDT_ENST00000399546.2_Missense_Mutation_p.L564I|BRDT_ENST00000402388.1_Missense_Mutation_p.L564I|BRDT_ENST00000362005.3_Missense_Mutation_p.L564I|BRDT_ENST00000394530.3_Missense_Mutation_p.L518I	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.L564I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGCATCAACACTAAGAGAATT	0.358000													3	62					0.004672	0.0054839	0.115264	1	0
KCNN1	3780	broad.mit.edu	37	19	18085084	18085084	+	RNA	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:18085084G>T	ENST00000601725.1	+	0	22																		p.W146C(2)									AGCTGTCCTGGGGGGTGTACA	0.632000													4	13					0.00909568	0.0104325	0.150653	1	0
PML	5371	broad.mit.edu	37	15	74337270	74337270	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:74337270C>T	ENST00000565898.1	+	8	2510	c.2426C>T	c.(2425-2427)cCg>cTg	p.P809L	PML_ENST00000268058.3_Missense_Mutation_p.P857L			P29590	PML_HUMAN	promyelocytic leukemia	857					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.P857L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TTGGAGGGTCCGGCGCTGGCA	0.647000			T	"""RARA, PAX5"""	"""APL, ALL"""								10	60					0	0	0.411799	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229634	140229634	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140229634C>A	ENST00000378122.3	+	1	2278	c.1554C>A	c.(1552-1554)taC>taA	p.Y518*	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Nonsense_Mutation_p.Y518*|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1												p.Y518*(2)|p.Y518Y(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGGTGTACGCGCTGCAGC	0.687000													14	71					9.31168e-06	1.41886e-05	0.435327	1	0
ZACN	353174	broad.mit.edu	37	17	74077485	74077485	+	Splice_Site	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:74077485T>A	ENST00000334586.5	+	6	752		c.e6+2		EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel						response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.?(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CAGGTGACGGTGAGTCAAGTC	0.622000													6	97					0	0	0.248553	0	0
NRP1	8829	broad.mit.edu	37	10	33496628	33496628	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:33496628T>C	ENST00000265371.4	-	11	2156	c.1631A>G	c.(1630-1632)aAc>aGc	p.N544S	NRP1_ENST00000374816.3_Missense_Mutation_p.N544S|NRP1_ENST00000395995.1_Missense_Mutation_p.N544S|NRP1_ENST00000374867.2_Missense_Mutation_p.N544S|NRP1_ENST00000466932.1_Intron|NRP1_ENST00000374822.4_Missense_Mutation_p.N544S|NRP1_ENST00000374821.5_Missense_Mutation_p.N544S|NRP1_ENST00000374823.5_Missense_Mutation_p.N544S			O14786	NRP1_HUMAN	neuropilin 1	544	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	p.N544S(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	ATCATAGTTGTTGTTGCCCTC	0.488000													10	83					0	0	0.411799	0	0
PALB2	79728	broad.mit.edu	37	16	23640575	23640575	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:23640575C>A	ENST00000261584.4	-	6	2688	c.2536G>T	c.(2536-2538)Gct>Tct	p.A846S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	846					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.A846S(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTATCAGAAGCAGGAAGCTCT	0.383000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					5	58					0.0215528	0.0235957	0.217242	1	0
SRBD1	55133	broad.mit.edu	37	2	45646961	45646961	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:45646961C>G	ENST00000263736.4	-	17	2184	c.2122G>C	c.(2122-2124)Gtg>Ctg	p.V708L	SRBD1_ENST00000535761.1_Missense_Mutation_p.V227L|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	708					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	p.V708L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTAATATCCACTCCCACAAAG	0.398000													5	62					0	0	0.184627	0	0
ABCG1	9619	broad.mit.edu	37	21	43645891	43645891	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:43645891A>T	ENST00000398457.2	+	3	419	c.159A>T	c.(157-159)ggA>ggT	p.G53G	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.G51G|ABCG1_ENST00000347800.2_Silent_p.G48G|ABCG1_ENST00000361802.2_Silent_p.G51G|ABCG1_ENST00000343687.3_Silent_p.G62G	NM_207627.1|NM_207628.1	NP_997510.1|NP_997511.1	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	51					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.G51G(1)|p.G53G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGCTGAATGGACATCTGAAAA	0.527000													9	64					0	0	0.307466	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19127126	19127126	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:19127126G>T	ENST00000381440.3	+	1	1873	c.1343G>T	c.(1342-1344)cGc>cTc	p.R448L	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	448						integral to membrane		p.R448L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTGCTGCGACGCCATACGCTC	0.677000													12	94					0.0167234	0.0185726	0.435327	1	0
ZC3H13	23091	broad.mit.edu	37	13	46542960	46542960	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:46542960C>G	ENST00000242848.4	-	14	4067	c.3719G>C	c.(3718-3720)aGc>aCc	p.S1240T	ZC3H13_ENST00000378921.2_Missense_Mutation_p.S196T|ZC3H13_ENST00000282007.3_Missense_Mutation_p.S1240T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1240	Ser-rich.						nucleic acid binding|zinc ion binding	p.S1240T(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GATTTCCAGGCTTTTTGTTTT	0.428000													15	118					0	0	0.479597	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056105	48056105	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:48056105T>C	ENST00000316364.5	+	10	1245	c.806T>C	c.(805-807)gTc>gCc	p.V269A	SEMA6D_ENST00000558014.1_Missense_Mutation_p.V269A|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V269A|SEMA6D_ENST00000389425.3_Missense_Mutation_p.V269A|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V269A|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V269A|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V269A|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V269A|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V269A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V269A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V269A|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V269A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	269	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.V269A(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCCCAGCGGGTCCTGGAGAAA	0.493000													12	72					0	0	0.387290	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													4	122					0.00116845	0.00143417	0.217242	1	0
FSHR	2492	broad.mit.edu	37	2	49247236	49247236	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:49247236T>A	ENST00000406846.2	-	3	407	c.288A>T	c.(286-288)aaA>aaT	p.K96N	FSHR_ENST00000304421.4_Missense_Mutation_p.K96N|FSHR_ENST00000346173.3_Missense_Mutation_p.K96N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	96					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.K96N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTTCATGTAATTTGGGAAGGT	0.418000									Gonadal Dysgenesis, 46 XX				80	236					0	0	0.870114	0	0
DLGAP4	22839	broad.mit.edu	37	20	35061089	35061089	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:35061089C>G	ENST00000373913.3	+	3	1449	c.969C>G	c.(967-969)tgC>tgG	p.C323W	DLGAP4_ENST00000339266.5_Missense_Mutation_p.C323W|DLGAP4_ENST00000373907.2_Missense_Mutation_p.C323W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.C323W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	323					cell-cell signaling	membrane	protein binding	p.C323W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAAATCCTGCCACCAGGGTC	0.612000													4	14					0	0	0.150653	0	0
ITGAE	3682	broad.mit.edu	37	17	3656700	3656700	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:3656700G>T	ENST00000263087.4	-	14	1650	c.1552C>A	c.(1552-1554)Ctg>Atg	p.L518M		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	518					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.L518M(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACAGGGCACAGCTCAGAGCCA	0.582000													5	39					0.014758	0.0164057	0.184627	1	0
ASPM	259266	broad.mit.edu	37	1	197073483	197073483	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:197073483C>G	ENST00000367409.4	-	18	5154	c.4898G>C	c.(4897-4899)cGc>cCc	p.R1633P	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1633	IQ 4.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R1633P(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GACAGCAGAGCGTGTTTTCTG	0.363000													10	73					0	0	0.361761	0	0
TMEM145	284339	broad.mit.edu	37	19	42824590	42824590	+	Splice_Site	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:42824590G>C	ENST00000598766.1	+	13	1266		c.e13+1		TMEM145_ENST00000301204.3_Splice_Site			Q8NBT3	TM145_HUMAN	transmembrane protein 145							integral to membrane		p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGTGTTTCTGGTGAGGATGGG	0.592000													3	72					0	0	0.150653	0	0
DTX3L	151636	broad.mit.edu	37	3	122287986	122287986	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:122287986T>A	ENST00000296161.4	+	3	1239	c.1050T>A	c.(1048-1050)atT>atA	p.I350I	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	350					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.I350I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AAGATGACATTTCAGCTGCCA	0.383000													17	81					0	0	0.520397	0	0
CNGB3	54714	broad.mit.edu	37	8	87588160	87588160	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:87588160G>A	ENST00000320005.5	-	18	2349	c.2302C>T	c.(2302-2304)Cac>Tac	p.H768Y		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	768					signal transduction|visual perception	integral to membrane	cGMP binding	p.H768Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTAACTGAGTGGGGTTCTTCC	0.453000													8	81					0	0	0.335167	0	0
FBLN1	2192	broad.mit.edu	37	22	45929024	45929024	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:45929024C>G	ENST00000348697.2	+	6	773	c.626C>G	c.(625-627)tCt>tGt	p.S209C	FBLN1_ENST00000442170.2_Missense_Mutation_p.S209C|FBLN1_ENST00000340923.5_Missense_Mutation_p.S209C|FBLN1_ENST00000327858.6_Missense_Mutation_p.S209C|FBLN1_ENST00000402984.3_Missense_Mutation_p.S247C|FBLN1_ENST00000262722.7_Missense_Mutation_p.S209C			P23142	FBLN1_HUMAN	fibulin 1	209	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.S209C(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGCTGCTGTCTGATGGTGTC	0.627000													3	46					0	0	0.115264	0	0
RNF157	114804	broad.mit.edu	37	17	74157643	74157643	+	Silent	SNP	G	G	T	rs139660847		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:74157643G>T	ENST00000269391.6	-	11	1170	c.1038C>A	c.(1036-1038)tcC>tcA	p.S346S	RNF157_ENST00000319945.6_Silent_p.S346S	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	346							zinc ion binding	p.S949S(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CAGATGTCTGGGATGAGATGA	0.498000													5	52					1.23904e-05	1.83473e-05	0.184627	1	0
SLIT3	6586	broad.mit.edu	37	5	168114017	168114017	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:168114017T>A	ENST00000519560.1	-	30	3700	c.3281A>T	c.(3280-3282)aAt>aTt	p.N1094I	SLIT3_ENST00000332966.8_Missense_Mutation_p.N1101I|SLIT3_ENST00000404867.3_Missense_Mutation_p.N1094I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1094	EGF-like 5.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.N1094I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTGTAGCCATTGATTGTGTC	0.632000													9	34					0	0	0.307466	0	0
C5AR1	728	broad.mit.edu	37	19	47823415	47823415	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:47823415G>T	ENST00000355085.3	+	2	403	c.381G>T	c.(379-381)ctG>ctT	p.L127L		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	127					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	p.L127L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCCTGCTCCTGGCCACCATCA	0.622000													17	66					1.99824e-07	3.3546e-07	0.520397	1	0
PIK3AP1	118788	broad.mit.edu	37	10	98408476	98408476	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:98408476G>A	ENST00000339364.5	-	7	1244	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	PIK3AP1_ENST00000371110.2_Silent_p.P197P|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	375						cytoplasm|plasma membrane		p.P375P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CGATGGTGTTGGGGTAGTGGC	0.577000													3	27					0	0	0.115264	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983192	140983192	+	Translation_Start_Site	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:140983192A>T	ENST00000544766.1	+	0	287				MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101H|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000298296.1_Splice_Site_p.Q349_splice	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3									p.Q349L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCAATCCTCAAGGTAAGGGCC	0.582000													9	35					0	0	0.387290	0	0
BNC1	646	broad.mit.edu	37	15	83931874	83931874	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:83931874G>C	ENST00000345382.2	-	4	2214	c.2129C>G	c.(2128-2130)gCa>gGa	p.A710G	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.A703G	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	710					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A710G(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CCTTGCTAATGCATGCTGACC	0.448000													6	65					0	0	0.217242	0	0
LVRN	206338	broad.mit.edu	37	5	115338596	115338596	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:115338596G>T	ENST00000357872.4	+	11	2009	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	AQPEP_ENST00000395528.2_Missense_Mutation_p.D146Y	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		629					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.D629Y(1)									AGTCTGGCTAGATCAAAGCAG	0.294000													4	30					5.9392e-07	9.621e-07	0.217242	1	0
TRIP12	9320	broad.mit.edu	37	2	230657800	230657800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:230657800G>A	ENST00000283943.5	-	26	3983	c.3805C>T	c.(3805-3807)Cag>Tag	p.Q1269*	TRIP12_ENST00000389045.3_Nonsense_Mutation_p.Q999*|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.Q1317*	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1269					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.Q1269*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTTTGTAACTGGCATTTTAAT	0.388000													4	48					0	0	0.184627	0	0
APBA2	321	broad.mit.edu	37	15	29346661	29346661	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:29346661G>T	ENST00000558402.1	+	5	1173	c.574G>T	c.(574-576)Ggc>Tgc	p.G192C	APBA2_ENST00000558330.1_Missense_Mutation_p.G192C|APBA2_ENST00000411764.1_Missense_Mutation_p.G192C|APBA2_ENST00000561069.1_Missense_Mutation_p.G192C|APBA2_ENST00000558259.1_Missense_Mutation_p.G192C			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	192	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding	p.G192C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CAGCAAAGAGGGCTACCAGGA	0.642000													7	17					5.18039e-06	7.95659e-06	0.278610	1	0
KIF4A	24137	broad.mit.edu	37	X	69623846	69623846	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:69623846G>T	ENST00000374403.3	+	24	2834	c.2752G>T	c.(2752-2754)Gct>Tct	p.A918S	KIF4A_ENST00000374388.3_Missense_Mutation_p.A918S	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	918	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	p.A918S(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AGAGTTACAAGCTGAGCTGGT	0.433000													4	8					0.150653	0.156761	0.150653	1	0
DAB1	1600	broad.mit.edu	37	1	57476878	57476878	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:57476878G>T	ENST00000371236.2	-	13	1775	c.1512C>A	c.(1510-1512)acC>acA	p.T504T	DAB1_ENST00000439789.2_Silent_p.T418T|DAB1_ENST00000371231.1_Silent_p.T537T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Silent_p.T486T|DAB1_ENST00000371234.4_Silent_p.T504T|DAB1_ENST00000420954.2_Silent_p.T502T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	537					cell differentiation|nervous system development			p.T504T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGTCATCTGTGGTAGGATCAC	0.448000													7	89					8.12818e-05	0.000111763	0.248553	1	0
BARHL1	56751	broad.mit.edu	37	9	135464640	135464640	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:135464640G>A	ENST00000263610.2	+	3	1328	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	BARHL1_ENST00000542090.1_Missense_Mutation_p.V239I	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	239						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V239I(1)		cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		ACAGACGGCCGTCGGGTTGGA	0.612000													18	97					0	0	0.592651	0	0
VPS13B	157680	broad.mit.edu	37	8	100148980	100148980	+	Splice_Site	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:100148980G>C	ENST00000395996.1	+	12	1762	c.1651_splice	c.e12+1	p.G551_splice	VPS13B_ENST00000355155.1_Splice_Site_p.G551_splice|VPS13B_ENST00000358544.2_Splice_Site_p.G551_splice|VPS13B_ENST00000357162.2_Splice_Site_p.G551_splice			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	551					protein transport			p.G551R(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAGTGGCAAAGGTATTGGCTT	0.418000													4	99					0	0	0.150653	0	0
TAF1L	138474	broad.mit.edu	37	9	32633177	32633177	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:32633177C>A	ENST00000242310.4	-	1	2490	c.2401G>T	c.(2401-2403)Gtt>Ttt	p.V801F		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	801					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	p.V801F(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGCTGGCCAACCACAAAAATA	0.423000													7	74					0.000227799	0.000307369	0.729181	1	0
ZNF189	7743	broad.mit.edu	37	9	104170866	104170866	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:104170866A>G	ENST00000374861.3	+	3	1058	c.774A>G	c.(772-774)aaA>aaG	p.K258K	ZNF189_ENST00000339664.2_Silent_p.K272K|ZNF189_ENST00000259395.4_Silent_p.K230K	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	272					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K272K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TCAGTTGGAAATCACACCTTA	0.413000													19	111					0	0	0.592651	0	0
AMER2	219287	broad.mit.edu	37	13	25745110	25745110	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:25745110C>A	ENST00000357816.2	-	2	1123	c.648G>T	c.(646-648)gaG>gaT	p.E216D	AMER2_ENST00000515384.1_Missense_Mutation_p.E216D|AMER2_ENST00000381853.3_Missense_Mutation_p.E216D					APC membrane recruitment protein 2									p.E216D(2)									gcgcgcgcccctccgcggccT	0.736000													4	11					0.150653	0.156761	0.150653	1	0
CYP20A1	57404	broad.mit.edu	37	2	204111546	204111546	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:204111546G>T	ENST00000356079.4	+	3	314	c.191G>T	c.(190-192)aGa>aTa	p.R64I	CYP20A1_ENST00000461371.1_Intron|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R64I	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	64						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R64I(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TTGCATGAGAGATATGGGCCT	0.428000													8	168					0.000274275	0.000358763	0.307466	1	0
ZNF85	7639	broad.mit.edu	37	19	21131981	21131981	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:21131981A>T	ENST00000601023.1	+	2	1130	c.484A>T	c.(484-486)Aag>Tag	p.K162*	ZNF85_ENST00000345030.6_Nonsense_Mutation_p.K188*|ZNF85_ENST00000328178.8_Nonsense_Mutation_p.K221*			Q03923	ZNF85_HUMAN	zinc finger protein 85	221						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.K221*(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TACTAAACATAAGAGAATTCA	0.348000													8	34					0	0	0.307466	0	0
CHL1	10752	broad.mit.edu	37	3	424236	424236	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:424236C>T	ENST00000256509.2	+	18	2700	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Silent_p.T670T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	670	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.T686T(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAAAGAAAACCACAGTTATCT	0.458000													6	58					0	0	0.217242	0	0
TUBAL3	79861	broad.mit.edu	37	10	5436254	5436254	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:5436254T>A	ENST00000380419.3	-	4	604	c.567A>T	c.(565-567)gtA>gtT	p.V189V	TUBAL3_ENST00000479328.1_Silent_p.V149V	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	189					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.V189V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TATAAGGCTCTACCACAGCAG	0.512000													13	30					0	0	0.411799	0	0
MMRN1	22915	broad.mit.edu	37	4	90857932	90857932	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:90857932A>G	ENST00000394980.1	+	7	3420	c.3101A>G	c.(3100-3102)gAc>gGc	p.D1034G	MMRN1_ENST00000508372.1_Missense_Mutation_p.D776G|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.D1034G			Q13201	MMRN1_HUMAN	multimerin 1	1034					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.D1034G(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGAAACACGGACAACATAATA	0.348000													6	27					0	0	0.217242	0	0
RYR2	6262	broad.mit.edu	37	1	237711850	237711850	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237711850G>T	ENST00000366574.2	+	26	3343	c.3026G>T	c.(3025-3027)cGg>cTg	p.R1009L	RYR2_ENST00000542537.1_Missense_Mutation_p.R993L|RYR2_ENST00000360064.6_Missense_Mutation_p.R1007L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1009	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R1007L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGTGGGCGCGGGATCGAATC	0.468000													4	22					0.00024832	0.000328157	0.150653	1	0
KDM1B	221656	broad.mit.edu	37	6	18208362	18208362	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:18208362G>T	ENST00000388870.2	+	17	2035	c.1794G>T	c.(1792-1794)caG>caT	p.Q598H	KDM1B_ENST00000397244.1_Missense_Mutation_p.Q366H|KDM1B_ENST00000297792.5_Splice_Site|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	597					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	p.?(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTTTTGAGCAGGTGCAGTGTA	0.423000													12	52					1.08611e-07	1.83668e-07	0.387290	1	0
FAM21C	253725	broad.mit.edu	37	10	46254832	46254832	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:46254832G>T	ENST00000336378.4	+	17	1736	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y	FAM21C_ENST00000374362.2_Missense_Mutation_p.D540Y|FAM21C_ENST00000540872.1_Missense_Mutation_p.D540Y|FAM21C_ENST00000537517.1_Missense_Mutation_p.D516Y|FAM21C_ENST00000359860.4_Missense_Mutation_p.D484Y	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	540								p.D539Y(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTTATTTTCAGATGAGGAGGA	0.408000													6	41					0.00621372	0.00727137	0.335167	1	0
ZNF343	79175	broad.mit.edu	37	20	2464827	2464827	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:2464827C>A	ENST00000278772.4	-	6	1267	c.780G>T	c.(778-780)ccG>ccT	p.P260P	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P260P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AGAGGGTCCTCGGGTTTGTAA	0.433000													5	61					0.00116845	0.00143417	0.217242	1	0
TSC22D1	8848	broad.mit.edu	37	13	45148670	45148670	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:45148670C>A	ENST00000458659.2	-	1	2031	c.1541G>T	c.(1540-1542)gGt>gTt	p.G514V	TSC22D1_ENST00000501704.2_Missense_Mutation_p.G514V	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	514	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.G514V(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GAGGGTCACACCTTGGAGAGC	0.498000													13	83					4.3838e-07	7.14145e-07	0.435327	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141461087	141461087	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:141461087C>A	ENST00000389328.4	-	2	694	c.680G>T	c.(679-681)cGc>cTc	p.R227L	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R129L|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.R129L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	129					cell differentiation	endoplasmic reticulum|Golgi apparatus		p.R227L(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CACGTCGGTGCGCGGCTGCTC	0.567000													5	41					0.014758	0.0164057	0.184627	1	0
FBXO30	84085	broad.mit.edu	37	6	146126130	146126130	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:146126130C>G	ENST00000237281.4	-	2	1578	c.1412G>C	c.(1411-1413)aGt>aCt	p.S471T		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	471							ubiquitin-protein ligase activity|zinc ion binding	p.S471T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AACCATTGTACTTGTAGCTAA	0.448000													12	93					0	0	0.435327	0	0
PER1	5187	broad.mit.edu	37	17	8051528	8051528	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:8051528G>T	ENST00000317276.4	-	9	1335	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	PER1_ENST00000354903.5_Silent_p.P350P|PER1_ENST00000581082.1_Silent_p.P346P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	366	PAS 2.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.P366P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGAGGCAGCTGGGTGTGTGCC	0.597000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					7	42					0.00448238	0.00532629	0.307466	1	0
TRIML1	339976	broad.mit.edu	37	4	189060757	189060757	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:189060757C>A	ENST00000332517.3	+	1	185	c.45C>A	c.(43-45)acC>acA	p.T15T		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	15					multicellular organismal development		ligase activity|zinc ion binding	p.T15T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGAACTCACCTGTTTCATCT	0.507000													9	112					3.86212e-05	5.48003e-05	0.361761	1	0
TRPC1	7220	broad.mit.edu	37	3	142523341	142523341	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:142523341A>G	ENST00000273482.6	+	11	2312	c.1921A>G	c.(1921-1923)Aaa>Gaa	p.K641E	TRPC1_ENST00000476941.1_Missense_Mutation_p.K675E	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	675					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.K641E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CTTTGATGACAAATGTACGTT	0.348000													6	42					0	0	0.248553	0	0
ZFP90	146198	broad.mit.edu	37	16	68598507	68598507	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:68598507A>G	ENST00000570495.1	+	5	2109	c.1817A>G	c.(1816-1818)gAa>gGa	p.E606G	ZFP90_ENST00000398253.2_Missense_Mutation_p.E606G|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Missense_Mutation_p.E606G			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	606					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E606G(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CATACTGGAGAAAAACCCTAT	0.403000													8	69					0	0	0.278610	0	0
FAM154A	158297	broad.mit.edu	37	9	18928669	18928669	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:18928669C>A	ENST00000380534.4	-	4	1085	c.806G>T	c.(805-807)tGt>tTt	p.C269F	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.C77F	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	269								p.C269F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AGTGGTGTTACAGAAAGGCAT	0.542000													7	42					2.0095e-06	3.14069e-06	0.248553	1	0
PLOD3	8985	broad.mit.edu	37	7	100850973	100850973	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:100850973C>A	ENST00000223127.3	-	17	2219	c.1821G>T	c.(1819-1821)gtG>gtT	p.V607V		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	607					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.V607V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCACGGTGGGCACATTCTCGT	0.672000													4	31					2.56e-06	3.96886e-06	0.150653	1	0
RIMS2	9699	broad.mit.edu	37	8	104987593	104987593	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:104987593G>A	ENST00000507740.1	+	13	2398	c.2162G>A	c.(2161-2163)gGt>gAt	p.G721D	RIMS2_ENST00000406091.3_Missense_Mutation_p.G929D|RIMS2_ENST00000436393.2_Missense_Mutation_p.G707D|RIMS2_ENST00000262231.10_Missense_Mutation_p.G768D	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	991	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G721D(2)|p.G929D(1)|p.G707D(1)|p.G996D(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGACATGATGGTCGAGATCTT	0.348000										HNSCC(12;0.0054)			4	27					0	0	0.184627	0	0
KRT38	8687	broad.mit.edu	37	17	39594757	39594757	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:39594757C>A	ENST00000246646.3	-	5	1005	c.1006G>T	c.(1006-1008)Gcc>Tcc	p.A336S		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	336	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.A336S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GTGTGCTGGGCTTGGCGCTCC	0.577000													5	47					0.0293803	0.0318333	0.248553	1	0
GPR1	2825	broad.mit.edu	37	2	207041555	207041555	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:207041555C>A	ENST00000407325.2	-	3	779	c.417G>T	c.(415-417)ttG>ttT	p.L139F	GPR1_ENST00000437420.1_Missense_Mutation_p.L139F	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	139						integral to plasma membrane	G-protein coupled receptor activity	p.L139F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CAGGATGGATCAAGTGGATAT	0.468000													4	47					0.00909568	0.0104325	0.150653	1	0
ABCB8	11194	broad.mit.edu	37	7	150731593	150731593	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:150731593G>T	ENST00000358849.4	+	4	659	c.564_splice	c.e4-1	p.G189_splice	ABCB8_ENST00000356058.4_Splice_Site_p.G226_splice|ABCB8_ENST00000297504.6_Splice_Site_p.G206_splice|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000477719.1_Splice_Site_p.G189_splice|ABCB8_ENST00000477092.1_Splice_Site_p.G189_splice|ABCB8_ENST00000542328.1_Splice_Site_p.G101_splice|ABCB8_ENST00000498578.1_Splice_Site_p.G189_splice	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	206	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G189V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTTCGCAGGGACTGCTGACC	0.652000													13	96					1.05317e-09	1.91561e-09	0.457914	1	0
RP1	6101	broad.mit.edu	37	8	55542651	55542651	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:55542651A>G	ENST00000220676.1	+	4	6357	c.6209A>G	c.(6208-6210)aAc>aGc	p.N2070S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2070					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.N2070S(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGAATAACAACTTATTAAAT	0.358000													6	29					0	0	0.248553	0	0
NFAM1	150372	broad.mit.edu	37	22	42783046	42783046	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:42783046G>C	ENST00000329021.5	-	5	739	c.702C>G	c.(700-702)atC>atG	p.I234M		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	234	ITAM.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.I234M(1)		large_intestine(1)|lung(3)	4						CCTCATTCTCGATGCAGGCAT	0.647000													8	61					0	0	0.307466	0	0
NYX	60506	broad.mit.edu	37	X	41333679	41333679	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:41333679G>T	ENST00000342595.2	+	2	1429	c.973G>T	c.(973-975)Ggc>Tgc	p.G325C	NYX_ENST00000378220.1_Missense_Mutation_p.G325C	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	325					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		p.G325C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTTCCAGCCCGGCTTCTTCCT	0.677000													3	18					1.23904e-05	1.83473e-05	0.184627	1	0
REG1A	5967	broad.mit.edu	37	2	79348008	79348008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:79348008C>A	ENST00000233735.1	+	2	124	c.21C>A	c.(19-21)taC>taA	p.Y7*		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	7				SSY -> NSF (in Ref. 3; AAA60546/ AAA60545).	positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.Y7*(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCAGCTCATACTTCATGCTGA	0.463000													8	42					0.000157383	0.000213354	0.278610	1	0
FLT1	2321	broad.mit.edu	37	13	28880861	28880861	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:28880861G>T	ENST00000282397.4	-	29	4020	c.3769C>A	c.(3769-3771)Cgc>Agc	p.R1257S	FLT1_ENST00000540678.1_Missense_Mutation_p.R475S|FLT1_ENST00000543394.1_Missense_Mutation_p.R280S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1257					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.R1257S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CAGGTGAAGCGCTTCAGCATG	0.552000													8	34					0.307466	0.312608	0.307466	1	0
NTN4	59277	broad.mit.edu	37	12	96180796	96180796	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:96180796C>T	ENST00000343702.4	-	2	954	c.506G>A	c.(505-507)gGc>gAc	p.G169D	NTN4_ENST00000538383.1_Missense_Mutation_p.G132D|NTN4_ENST00000344911.4_Missense_Mutation_p.G132D|NTN4_ENST00000553059.1_Missense_Mutation_p.G169D	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	169	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane		p.G169D(1)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ATCTTCCAGGCCAAATGTAGC	0.507000													4	48					0	0	0.150653	0	0
ABCA10	10349	broad.mit.edu	37	17	67161197	67161197	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:67161197C>A	ENST00000269081.4	-	27	4099	c.3190G>T	c.(3190-3192)Gta>Tta	p.V1064L	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1064					transport	integral to membrane	ATP binding|ATPase activity	p.M1063_V1064>IL(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGAGTTGATACCATAATTGTG	0.299000													5	25					0.184627	0.190397	0.184627	1	0
ZNF804B	219578	broad.mit.edu	37	7	88965207	88965207	+	Missense_Mutation	SNP	G	G	C	rs141578416		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:88965207G>C	ENST00000333190.4	+	4	3520	c.2911G>C	c.(2911-2913)Ggc>Cgc	p.G971R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	971						intracellular	zinc ion binding	p.G971R(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGCACCATCAGGCTGTAACAG	0.403000										HNSCC(36;0.09)			4	92					0	0	0.150653	0	0
COL24A1	255631	broad.mit.edu	37	1	86591502	86591502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:86591502G>A	ENST00000370571.2	-	3	883	c.517C>T	c.(517-519)Caa>Taa	p.Q173*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.Q173*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	173	Laminin G-like.|TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent	p.Q173*(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GAGACACTTTGGTTTCTAATA	0.353000													6	33					0	0	0.248553	0	0
IFNA6	3443	broad.mit.edu	37	9	21350457	21350457	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:21350457T>C	ENST00000380210.1	-	1	920	c.430A>G	c.(430-432)Aga>Gga	p.R144G		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	144					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.R144G(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AAGTATTTTCTCACAGCCAGG	0.498000													10	172					0	0	0.361761	0	0
DOCK2	1794	broad.mit.edu	37	5	169116287	169116287	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:169116287G>T	ENST00000256935.8	+	9	873	c.793G>T	c.(793-795)Ggc>Tgc	p.G265C		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	265					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.G265C(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCAGCCGGGGCTTCCCTAA	0.522000													6	53					0.0215528	0.0235957	0.217242	1	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212233	90212233	+	RNA	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:90212233C>A	ENST00000390277.2	+	0	422																											TTATTACTGTCAGCAGCGTAG	0.483000													12	40					4.36969e-10	8.03661e-10	0.435327	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254037	39254037	+	Silent	SNP	G	G	A	rs141299737	by1000genomes	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:39254037G>A	ENST00000333822.4	-	1	356	c.300C>T	c.(298-300)tgC>tgT	p.C100C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	100	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						agctggggcggcagcagctgg	0.662000													3	23					0	0	0.248553	0	0
NLRP13	126204	broad.mit.edu	37	19	56436008	56436008	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:56436008C>A	ENST00000588751.1	-	3	429	c.405G>T	c.(403-405)caG>caT	p.Q135H	NLRP13_ENST00000342929.3_Missense_Mutation_p.Q135H			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	135							ATP binding	p.Q135_G136>H*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTTGGCATCCCTGGGTCTGCA	0.428000													9	55					1.12685e-05	1.68808e-05	0.307466	1	0
TTN	7273	broad.mit.edu	37	2	179577161	179577161	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:179577161G>T	ENST00000589042.1	-	95	27712	c.27488C>A	c.(27487-27489)aCt>aAt	p.T9163N	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T8846N|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T7919N|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8846	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T7919N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGATTTTTCAGTCGTAGTTAT	0.413000													5	77					0.000602214	0.000761004	0.184627	1	0
SI	6476	broad.mit.edu	37	3	164709192	164709192	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:164709192C>A	ENST00000264382.3	-	44	5119	c.5057G>T	c.(5056-5058)cGt>cTt	p.R1686L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1686	Sucrase.				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	p.R1686H(1)|p.R1686L(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTGACCACCACGGACATGTAG	0.388000										HNSCC(35;0.089)			9	47					3.09899e-07	5.07706e-07	0.307466	1	0
ETS1	2113	broad.mit.edu	37	11	128356001	128356001	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:128356001G>C	ENST00000392668.3	-	6	644	c.576C>G	c.(574-576)gcC>gcG	p.A192A	ETS1_ENST00000345075.4_Silent_p.A148A|ETS1_ENST00000526145.1_Silent_p.A148A|ETS1_ENST00000531611.1_Silent_p.A148A|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000319397.5_Silent_p.A148A	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	148					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A148A(1)|p.A192A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		ATTCTGGATAGGCTGGGTTGA	0.408000													6	57					0	0	0.217242	0	0
EGFL6	25975	broad.mit.edu	37	X	13641992	13641992	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:13641992G>T	ENST00000361306.1	+	10	1490	c.1233G>T	c.(1231-1233)tgG>tgT	p.W411C	EGFL6_ENST00000473826.1_3'UTR|EGFL6_ENST00000380602.3_Missense_Mutation_p.W412C	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	411	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	p.W412C(1)|p.W411C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TCTGTGACTGGAAACAGGATA	0.368000													4	28					0.000602214	0.000761004	0.184627	1	0
PDZD8	118987	broad.mit.edu	37	10	119043175	119043175	+	Silent	SNP	C	C	A	rs147188948		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:119043175C>A	ENST00000334464.5	-	5	3308	c.3069G>T	c.(3067-3069)ctG>ctT	p.L1023L		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1023					intracellular signal transduction		metal ion binding	p.L1023L(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AGCCCCTGTACAGATCACGAC	0.418000													9	118					1.12685e-05	1.68808e-05	0.307466	1	0
KIAA2018	205717	broad.mit.edu	37	3	113376009	113376009	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:113376009T>C	ENST00000316407.4	-	7	4930	c.4520A>G	c.(4519-4521)cAt>cGt	p.H1507R	KIAA2018_ENST00000478658.1_Missense_Mutation_p.H1507R|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1507	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.H1507R(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTGGACATTATGGGGCTGAGA	0.478000													6	49					0	0	0.248553	0	0
COL7A1	1294	broad.mit.edu	37	3	48619147	48619147	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:48619147C>A	ENST00000328333.8	-	48	4821	c.4714G>T	c.(4714-4716)Ggg>Tgg	p.G1572W	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1572W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1572	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G1572W(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCCGTTCCCCTTGGACTCCG	0.587000													7	90					0.00198382	0.00240179	0.248553	1	0
CSPG4	1464	broad.mit.edu	37	15	75981912	75981912	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:75981912G>T	ENST00000308508.5	-	3	1586	c.1494C>A	c.(1492-1494)gaC>gaA	p.D498E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	498	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.D498E(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGTTCACCACGTCCAGGAGGG	0.647000													6	63					0.00116845	0.00143417	0.217242	1	0
PDE3A	5139	broad.mit.edu	37	12	20766475	20766475	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:20766475G>T	ENST00000359062.3	+	3	1150	c.1110G>T	c.(1108-1110)gtG>gtT	p.V370V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	370				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.V370V(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CACCAAACGTGTGCACATCCT	0.557000													6	47					0.00116845	0.00143417	0.217242	1	0
OR56B1	387748	broad.mit.edu	37	11	5758676	5758676	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:5758676C>A	ENST00000317121.3	+	1	996	c.930C>A	c.(928-930)gcC>gcA	p.A310A	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A310A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TTAGGGCAGCCTTCCAAAAGG	0.418000													21	139					5.26018e-13	1.02627e-12	0.608945	1	0
AOX1	316	broad.mit.edu	37	2	201468757	201468757	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:201468757C>A	ENST00000374700.2	+	8	847	c.606C>A	c.(604-606)ttC>ttA	p.F202L		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	202					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.F202L(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CAAAACTCTTCGCAGAAGAGG	0.373000													4	43					0.150653	0.156761	0.150653	1	0
NUFIP2	57532	broad.mit.edu	37	17	27613955	27613955	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:27613955C>G	ENST00000225388.4	-	2	1115	c.1057G>C	c.(1057-1059)Gtt>Ctt	p.V353L	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	353						nucleus|polysomal ribosome	protein binding|RNA binding	p.V353L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATTTTAGGAACTATTTTAGCA	0.403000													17	87					0	0	0.539581	0	0
SYNE2	23224	broad.mit.edu	37	14	64421515	64421515	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:64421515G>T	ENST00000358025.3	+	8	899	c.669G>T	c.(667-669)ttG>ttT	p.L223F	SYNE2_ENST00000554584.1_Missense_Mutation_p.L223F|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Missense_Mutation_p.L223F|SYNE2_ENST00000344113.4_Missense_Mutation_p.L223F|SYNE2_ENST00000341472.5_Missense_Mutation_p.L223F	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	223	Actin-binding.|CH 2.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.L223F(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCATGCCTTGCGACCAGACC	0.393000													4	49					2.56e-06	3.96886e-06	0.150653	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643105	1643105	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:1643105G>T	ENST00000399682.1	-	1	263	c.219C>A	c.(217-219)tcC>tcA	p.S73S		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	73	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.S73S(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCCCCACAGGAGCCACAGC	0.667000													6	76					6.5536e-12	1.25738e-11	0.278610	1	0
SI	6476	broad.mit.edu	37	3	164714347	164714347	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:164714347C>A	ENST00000264382.3	-	40	4730	c.4668G>T	c.(4666-4668)agG>agT	p.R1556S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1556	Sucrase.				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	p.R1556S(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTTGTGATTCCTTGAGTATG	0.353000										HNSCC(35;0.089)			5	67					1.024e-07	1.75218e-07	0.184627	1	0
NAV3	89795	broad.mit.edu	37	12	78400781	78400781	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:78400781A>T	ENST00000397909.2	+	8	1636	c.1463A>T	c.(1462-1464)aAg>aTg	p.K488M	NAV3_ENST00000228327.6_Missense_Mutation_p.K488M|NAV3_ENST00000266692.7_Missense_Mutation_p.K488M|NAV3_ENST00000536525.2_Missense_Mutation_p.K488M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	488						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.K488M(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAGAAGAGAAGGATCAGGTG	0.393000										HNSCC(70;0.22)			8	34					0	0	0.307466	0	0
CETP	1071	broad.mit.edu	37	16	57015098	57015098	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:57015098A>T	ENST00000200676.3	+	12	1305	c.1175A>T	c.(1174-1176)tAt>tTt	p.Y392F	CETP_ENST00000379780.2_Missense_Mutation_p.Y332F|CETP_ENST00000566128.1_Missense_Mutation_p.Y327F	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	392					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	p.Y392F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CAGGCCTCCTATTCTAAGAAA	0.542000													8	87					0	0	0.335167	0	0
MXRA5	25878	broad.mit.edu	37	X	3239784	3239784	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:3239784T>A	ENST00000217939.6	-	5	4096	c.3942A>T	c.(3940-3942)ccA>ccT	p.P1314P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1314						extracellular region		p.P1314P(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TATATGTGACTGGAAGTGTCT	0.363000													11	41					0	0	0.435327	0	0
CNGB3	54714	broad.mit.edu	37	8	87588161	87588161	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:87588161G>T	ENST00000320005.5	-	18	2348	c.2301C>A	c.(2299-2301)ccC>ccA	p.P767P		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	767					signal transduction|visual perception	integral to membrane	cGMP binding	p.H768Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TAACTGAGTGGGGTTCTTCCT	0.458000													8	78					3.86212e-05	5.48003e-05	0.361761	1	0
PCDH11X	27328	broad.mit.edu	37	X	91134011	91134011	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:91134011A>T	ENST00000373094.1	+	2	3617	c.2772A>T	c.(2770-2772)acA>acT	p.T924T	PCDH11X_ENST00000395337.2_Silent_p.T924T|PCDH11X_ENST00000373097.1_Silent_p.T924T|PCDH11X_ENST00000361724.1_Silent_p.T924T|PCDH11X_ENST00000504220.1_Silent_p.T924T|PCDH11X_ENST00000361655.2_Silent_p.T924T|PCDH11X_ENST00000406881.1_Silent_p.T924T|PCDH11X_ENST00000298274.8_Silent_p.T924T|PCDH11X_ENST00000373088.1_Silent_p.T924T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	924					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.T924T(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGGTAACTACACCTACTACTT	0.463000													20	47					0	0	0.575678	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37529274	37529274	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:37529274T>A	ENST00000299824.1	+	5	707	c.518T>A	c.(517-519)cTc>cAc	p.L173H	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.L173H	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	173					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.L173H(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCATATGACCTCTGCGAGGAT	0.572000													5	38					0	0	0.217242	0	0
SLIT3	6586	broad.mit.edu	37	5	168135007	168135007	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:168135007G>A	ENST00000519560.1	-	26	3237	c.2818C>T	c.(2818-2820)Cgc>Tgc	p.R940C	CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.R947C|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.R940C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	940	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.R940C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGCACAGCGGTACAGCTCC	0.617000													5	26					0	0	0.278610	0	0
METTL6	131965	broad.mit.edu	37	3	15457374	15457374	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:15457374C>A	ENST00000443029.1	-	4	676	c.436G>T	c.(436-438)Gta>Tta	p.V146L	METTL6_ENST00000383789.5_Missense_Mutation_p.V146L|METTL6_ENST00000450816.2_Missense_Mutation_p.V101L|METTL6_ENST00000383790.3_Missense_Mutation_p.V146L			Q8TCB7	METL6_HUMAN	methyltransferase like 6	146							methyltransferase activity	p.V146L(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TCTGGCGGTACATGATCCAGA	0.383000													4	61					0.00024832	0.000328157	0.150653	1	0
MYH2	4620	broad.mit.edu	37	17	10433048	10433048	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:10433048G>T	ENST00000245503.5	-	24	3334	c.2950C>A	c.(2950-2952)Ctc>Atc	p.L984I	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L984I|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	984					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L984I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTCTGTGAGGTTTTTCACC	0.468000													21	213					1.96292e-10	3.63329e-10	0.592651	1	0
CLCN1	1180	broad.mit.edu	37	7	143016969	143016969	+	Splice_Site	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:143016969G>C	ENST00000343257.2	+	2	388		c.e2+1			NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1						muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.?(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AAATGTCAAGGTGATGGGGAC	0.488000													20	74					0	0	0.624587	0	0
TPK1	27010	broad.mit.edu	37	7	144245644	144245644	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:144245644G>T	ENST00000549981.1	-	10	925	c.202C>A	c.(202-204)Ctt>Att	p.L68I	TPK1_ENST00000538212.2_Missense_Mutation_p.L131I|TPK1_ENST00000378099.3_Missense_Mutation_p.L136I|TPK1_ENST00000360057.3_Missense_Mutation_p.L185I|TPK1_ENST00000547966.1_5'UTR			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	185					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	p.L185I(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACAGGAATAAGGCCACACCAA	0.428000													14	76					1.99824e-07	3.3546e-07	0.520397	1	0
ADAM19	8728	broad.mit.edu	37	5	156997941	156997941	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:156997941G>A	ENST00000257527.4	-	2	220	c.142C>T	c.(142-144)Cct>Tct	p.P48S	ADAM19_ENST00000517905.1_Missense_Mutation_p.P48S|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.P50S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	48					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.P49S(1)|p.P48S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCACTGAGGTATGATAAGT	0.483000													7	38					0	0	0.278610	0	0
CACNA2D1	781	broad.mit.edu	37	7	81588610	81588610	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:81588610C>A	ENST00000356860.3	-	38	3478	c.3140G>T	c.(3139-3141)tGc>tTc	p.C1047F	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C259F|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.C1059F	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1059						voltage-gated calcium channel complex	metal ion binding	p.C1047F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTTATCAAAGCAGACATCAGG	0.373000													6	60					8.12818e-05	0.000111763	0.248553	1	0
LCMT2	9836	broad.mit.edu	37	15	43621883	43621883	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:43621883C>A	ENST00000305641.5	-	1	920	c.805G>T	c.(805-807)Gtg>Ttg	p.V269L	LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	269					tRNA processing		methyltransferase activity|protein binding	p.V269L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TTCATGTCCACGGCACCGCAG	0.572000													6	51					0.0215528	0.0235957	0.217242	1	0
FRAS1	80144	broad.mit.edu	37	4	79460460	79460460	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:79460460C>T	ENST00000264895.6	+	73	11751	c.11311C>T	c.(11311-11313)Cca>Tca	p.P3771S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3766					cell communication	integral to membrane|plasma membrane	metal ion binding	p.P3772S(1)|p.P3771S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCGCAATCAGCCAGAGGTAAC	0.443000													6	62					0	0	0.217242	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748988	36748988	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:36748988G>A	ENST00000379881.3	-	7	748	c.660C>T	c.(658-660)tgC>tgT	p.C220C	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.C297C|SOHLH2_ENST00000554962.1_Silent_p.C297C	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2									p.C220C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GCTGCTCACAGCAATATTTGA	0.403000													9	42					0	0	0.335167	0	0
RPN2	6185	broad.mit.edu	37	20	35832307	35832307	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:35832307A>G	ENST00000237530.6	+	5	810	c.499A>G	c.(499-501)Aca>Gca	p.T167A	RPN2_ENST00000373622.5_Missense_Mutation_p.T135A	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	167					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.T167A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GGCTCTGCAGACAGCATCCCA	0.512000													6	24					0	0	0.278610	0	0
AHCY	191	broad.mit.edu	37	20	32873372	32873372	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:32873372C>T	ENST00000538132.1	-	9	1343	c.957G>A	c.(955-957)ctG>ctA	p.L319L	AHCY_ENST00000217426.2_Silent_p.L347L	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	347					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	p.L347L(1)		endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGCACAACCCAGGTTGACCA	0.612000													12	38					0	0	0.457914	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42866307	42866307	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:42866307C>T	ENST00000455697.1	-	2	297	c.12G>A	c.(10-12)gaG>gaA	p.E4E	PRICKLE1_ENST00000552240.1_Silent_p.E4E|PRICKLE1_ENST00000345127.3_Silent_p.E4E|PRICKLE1_ENST00000548696.1_Silent_p.E4E|PRICKLE1_ENST00000445766.2_Silent_p.E4E	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	4					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.E4E(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TGGGCTCCATCTCCAAAGGCA	0.463000													4	41					0	0	0.217242	0	0
FAP	2191	broad.mit.edu	37	2	163030285	163030285	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:163030285G>A	ENST00000188790.4	-	23	2189	c.1982C>T	c.(1981-1983)aCa>aTa	p.T661I	FAP_ENST00000443424.1_Missense_Mutation_p.T636I	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	661					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.T661I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GAATCTCTCTGTGTAGACAGA	0.313000													17	111					0	0	0.575678	0	0
DSG4	147409	broad.mit.edu	37	18	28983423	28983423	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:28983423C>A	ENST00000359747.4	+	11	1491	c.1462C>A	c.(1462-1464)Cct>Act	p.P488T	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P488T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	488	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.P488T(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATTGAGGTTCCTGATATCAA	0.383000													7	11					0.00307968	0.00368986	0.278610	1	0
PCDH18	54510	broad.mit.edu	37	4	138451556	138451556	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:138451556C>G	ENST00000344876.4	-	1	2073	c.1687G>C	c.(1687-1689)Gtg>Ctg	p.V563L	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.V343L|PCDH18_ENST00000412923.2_Missense_Mutation_p.V563L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	563	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V563L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATGGTGAGCACAACTGTGGTA	0.453000													23	115					0	0	0.639603	0	0
APLP1	333	broad.mit.edu	37	19	36369812	36369812	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36369812G>T	ENST00000221891.4	+	15	1863	c.1671G>T	c.(1669-1671)agG>agT	p.R557S	APLP1_ENST00000537454.2_Missense_Mutation_p.R517S|APLP1_ENST00000586861.1_Missense_Mutation_p.R550S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	556					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	p.R557S(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTTCCAAGGGGTTTCCCTT	0.602000													13	62					1.05317e-09	1.91561e-09	0.457914	1	0
SHD	56961	broad.mit.edu	37	19	4290477	4290477	+	Silent	SNP	G	G	T	rs143192359		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:4290477G>T	ENST00000543264.2	+	6	2333	c.870G>T	c.(868-870)gcG>gcT	p.A290A	SHD_ENST00000599689.1_Silent_p.A250A	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	290	SH2.							p.A290A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGTTCGCGCGGACCCGTG	0.652000													3	57					0.115264	0.121914	0.115264	1	0
PTPRC	5788	broad.mit.edu	37	1	198682150	198682150	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:198682150C>A	ENST00000367376.2	+	12	1405	c.1234C>A	c.(1234-1236)Ccc>Acc	p.P412T	PTPRC_ENST00000442510.2_Missense_Mutation_p.P414T|PTPRC_ENST00000348564.6_Missense_Mutation_p.P253T|PTPRC_ENST00000594404.1_Missense_Mutation_p.P251T|PTPRC_ENST00000352140.3_Missense_Mutation_p.P364T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	412	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.P412T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TACCTGGAATCCCCCTCAAAG	0.318000													8	82					5.4927e-09	9.80537e-09	0.307466	1	0
DDR2	4921	broad.mit.edu	37	1	162745481	162745481	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:162745481C>A	ENST00000367922.2	+	16	2334	c.1896C>A	c.(1894-1896)ctC>ctA	p.L632L	DDR2_ENST00000367921.3_Silent_p.L632L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	632	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L632L(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			TGTCTCGGCTCAAGGACCCAA	0.408000													14	93					1.05317e-09	1.91561e-09	0.457914	1	0
PARD3B	117583	broad.mit.edu	37	2	206480373	206480373	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:206480373A>T	ENST00000406610.2	+	23	3661	c.3454A>T	c.(3454-3456)Aaa>Taa	p.K1152*	PARD3B_ENST00000358768.2_Nonsense_Mutation_p.K1090*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.K1083*|PARD3B_ENST00000349953.3_Nonsense_Mutation_p.K1051*|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1152					cell cycle|cell division	endomembrane system|tight junction		p.K1090*(1)|p.K1091*(1)|p.K1083*(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCCCCAGCACAAAGGACCCTT	0.637000													6	48					0	0	0.248553	0	0
CPS1	1373	broad.mit.edu	37	2	211525277	211525277	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:211525277C>T	ENST00000233072.5	+	32	4021	c.3825C>T	c.(3823-3825)ttC>ttT	p.F1275F	CPS1_ENST00000430249.2_Silent_p.F1281F|CPS1_ENST00000451903.2_Silent_p.F824F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1275	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.F1275F(1)|p.F1281F(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGGTTGACTTCATTGATGTGG	0.413000													7	137					0	0	0.248553	0	0
KCNK18	338567	broad.mit.edu	37	10	118969481	118969481	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:118969481G>T	ENST00000334549.1	+	3	826	c.826G>T	c.(826-828)Gtg>Ttg	p.V276L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	276						integral to membrane|plasma membrane		p.V276L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TGGACAGCAGGTGGAGAGGTT	0.537000													8	55					0.0477658	0.0513204	0.307466	1	0
BRSK1	84446	broad.mit.edu	37	19	55817713	55817713	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:55817713C>T	ENST00000309383.1	+	17	2261	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	BRSK1_ENST00000590333.1_Missense_Mutation_p.R678C|BRSK1_ENST00000326848.7_Missense_Mutation_p.R357C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	662					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.R662C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AAAGCCCGTCCGCTTCCAGGT	0.637000													13	51					0	0	0.411799	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046123	42046123	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:42046123C>A	ENST00000372584.1	-	3	5360	c.4346G>T	c.(4345-4347)aGa>aTa	p.R1449I	HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1449I|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1449I|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1449I	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1449					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R1449I(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCCTTCACTCTTTTTTGCTG	0.527000													35	71					2.05212e-20	4.16555e-20	0.812448	1	0
MYH7	4625	broad.mit.edu	37	14	23887531	23887531	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:23887531C>T	ENST00000355349.3	-	30	4219	c.4057G>A	c.(4057-4059)Gcc>Acc	p.A1353T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1353					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1353T(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCGGCCTTGGCCTCCGTCTCC	0.672000													5	60					0	0	0.184627	0	0
AGBL2	79841	broad.mit.edu	37	11	47689131	47689131	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:47689131C>A	ENST00000525123.1	-	16	2617	c.2332G>T	c.(2332-2334)Gat>Tat	p.D778Y	AGBL2_ENST00000528244.1_Missense_Mutation_p.D740Y|AGBL2_ENST00000298861.4_Missense_Mutation_p.D778Y|AGBL2_ENST00000357610.3_Missense_Mutation_p.D780Y	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	778					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	p.D778Y(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACTGAGGTATCTTCTGTTAAC	0.353000													6	71					0.0293803	0.0318333	0.248553	1	0
NT5C3B	115024	broad.mit.edu	37	17	39985171	39985171	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:39985171G>A	ENST00000269534.8	-	7	515	c.414C>T	c.(412-414)taC>taT	p.Y138Y	NT5C3B_ENST00000435506.2_Silent_p.Y146Y|NT5C3B_ENST00000521789.1_Silent_p.Y113Y	NM_052935.4	NP_443167.4			5'-nucleotidase, cytosolic IIIB									p.Y138Y(1)									TGTTGTTATGGTAGAGTGTGT	0.438000													12	63					0	0	0.411799	0	0
ITGAD	3681	broad.mit.edu	37	16	31409184	31409184	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:31409184G>T	ENST00000389202.2	+	5	430	c.381G>T	c.(379-381)ctG>ctT	p.L127L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	127					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCTCCTGCTGGGCTCGCGCT	0.642000													4	22					0.014758	0.0164057	0.184627	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559505	140559505	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140559505G>A	ENST00000239444.2	+	1	2135	c.1890G>A	c.(1888-1890)ctG>ctA	p.L630L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		630	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L630L(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCCAGGCTGCTGAGCGAGC	0.697000													9	51					0	0	0.335167	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872417	51872417	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:51872417C>T	ENST00000371497.5	+	2	3307	c.2420C>T	c.(2419-2421)aCc>aTc	p.T807I	TSHZ2_ENST00000603338.2_Missense_Mutation_p.T804I|TSHZ2_ENST00000329613.6_Missense_Mutation_p.T804I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	807					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T807I(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGCCACCACCCCAAAGCCA	0.547000													19	50					0	0	0.539581	0	0
RYR1	6261	broad.mit.edu	37	19	38997149	38997149	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:38997149G>T	ENST00000355481.4	+	56	8786	c.8655G>T	c.(8653-8655)acG>acT	p.T2885T	RYR1_ENST00000360985.3_Silent_p.T2885T|RYR1_ENST00000359596.3_Silent_p.T2885T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2885	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	p.T2885T(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCACAACACGTGGGGACGGA	0.587000													7	44					0.0477658	0.0513204	0.307466	1	0
ABCA7	10347	broad.mit.edu	37	19	1056364	1056364	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:1056364G>T	ENST00000263094.6	+	33	4683	c.4452G>T	c.(4450-4452)gtG>gtT	p.V1484V	ABCA7_ENST00000435683.2_Silent_p.V1346V|ABCA7_ENST00000433129.1_Silent_p.V1484V	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1484					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.V1484V(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCCATGGTGGCCTTTGTCA	0.617000													8	33					3.09899e-07	5.07706e-07	0.307466	1	0
JMJD1C	221037	broad.mit.edu	37	10	64975022	64975022	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:64975022C>A	ENST00000399262.2	-	7	1234		c.e7+1		JMJD1C_ENST00000399251.1_Splice_Site|JMJD1C_ENST00000542921.1_Splice_Site|JMJD1C_ENST00000402544.1_Splice_Site	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C						blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.?(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTGGGTCCTACCTCCTCGTGA	0.308000													9	67					1.12685e-05	1.68808e-05	0.307466	1	0
SDHA	6389	broad.mit.edu	37	5	240507	240507	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:240507G>T	ENST00000264932.6	+	11	1582	c.1467G>T	c.(1465-1467)ggG>ggT	p.G489G	SDHA_ENST00000510361.1_Silent_p.G441G|SDHA_ENST00000504309.1_Silent_p.G489G	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	489					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.G489G(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CAAACGCTGGGGAAGAATCTG	0.373000									Familial Paragangliomas				8	30					0.000157383	0.000213354	0.278610	1	0
ANLN	54443	broad.mit.edu	37	7	36463494	36463494	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:36463494G>C	ENST00000265748.2	+	15	2766	c.2545G>C	c.(2545-2547)Gca>Cca	p.A849P	ANLN_ENST00000396068.2_Missense_Mutation_p.A812P	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	849	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.A849P(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CACACCATTAGCAAGTACTTC	0.333000													12	59					0	0	0.387290	0	0
COL3A1	1281	broad.mit.edu	37	2	189875573	189875573	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:189875573G>A	ENST00000304636.3	+	50	4381	c.4211G>A	c.(4210-4212)gGa>gAa	p.G1404E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G1101E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1404	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G1404E(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAGGCTGAAGGAAATAGCAAA	0.408000													9	65					0	0	0.335167	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871053	51871053	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:51871053G>T	ENST00000371497.5	+	2	1943	c.1056G>T	c.(1054-1056)ttG>ttT	p.L352F	TSHZ2_ENST00000603338.2_Missense_Mutation_p.L349F|TSHZ2_ENST00000329613.6_Missense_Mutation_p.L349F	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	352					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L352F(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACGCCAACTTGCAGTTGTCCT	0.493000													3	91					3.59834e-05	5.15003e-05	0.217242	1	0
BRINP3	339479	broad.mit.edu	37	1	190234075	190234075	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:190234075G>C	ENST00000367462.3	-	4	769	c.538C>G	c.(538-540)Cta>Gta	p.L180V	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L78V	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		180						extracellular region		p.L180V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAAGCGGCTAGCTGATGTAGC	0.463000													7	46					0	0	0.278610	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123253727	123253727	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:123253727C>G	ENST00000349780.4	-	13	1519	c.1340G>C	c.(1339-1341)cGc>cCc	p.R447P	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R447P|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R447P|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R447P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	447					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.R447P(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CACTTCATTGCGTAATTTTTC	0.308000													3	35					0	0	0.150653	0	0
MIR519A1	574496	broad.mit.edu	37	19	54255706	54255706	+	RNA	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:54255706G>T	ENST00000385257.1	+	0	56					NR_030218.1																						AGAAAGGAAAGTGCATCCTTT	0.413000													18	108					8.28177e-16	1.64921e-15	0.557998	1	0
SLC32A1	140679	broad.mit.edu	37	20	37356650	37356650	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:37356650A>T	ENST00000217420.1	+	2	1209	c.946A>T	c.(946-948)Agc>Tgc	p.S316C		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	316					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.S316C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CATCGTGTTCAGCTACACGTC	0.567000													4	32					0	0	0.217242	0	0
VCAN	1462	broad.mit.edu	37	5	82815784	82815784	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:82815784A>T	ENST00000265077.3	+	7	2224	c.1659A>T	c.(1657-1659)ggA>ggT	p.G553G	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Silent_p.G553G|VCAN_ENST00000512590.2_Silent_p.G505G|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	553	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.G553G(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCACCTTGGGAGAAGAGGATG	0.413000													7	83					0	0	0.248553	0	0
SATB2	23314	broad.mit.edu	37	2	200137222	200137222	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:200137222C>A	ENST00000443023.1	-	10	3202	c.1737G>T	c.(1735-1737)ctG>ctT	p.L579L	SATB2_ENST00000260926.5_Silent_p.L638L|SATB2_ENST00000417098.1_Silent_p.L638L|SATB2_ENST00000457245.1_Silent_p.L638L|SATB2_ENST00000428695.1_Silent_p.L520L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	638						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.L638L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTCTGGGTACAGGCCTACAT	0.527000													3	49					0.000602214	0.000761004	0.184627	1	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144292	35144292	+	RNA	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:35144292G>T	ENST00000436258.1	-	0	1774																											TAACACACATGTGCAGCGTCA	0.363000													3	30					0.004672	0.0054839	0.115264	1	0
PLXDC2	84898	broad.mit.edu	37	10	20290820	20290820	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:20290820A>G	ENST00000377252.3	+	2	1070	c.229A>G	c.(229-231)Acg>Gcg	p.T77A	PLXDC2_ENST00000377242.3_Missense_Mutation_p.T77A	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	77						integral to membrane		p.T77A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GGCGGTAGACACGAACCGAGC	0.537000													3	28					0	0	0.150653	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286268	11286268	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:11286268C>A	ENST00000539585.1	-	1	975	c.576G>T	c.(574-576)ctG>ctT	p.L192L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GAAAAGATATCAGGGTCAGAG	0.423000													4	125					0.014758	0.0164057	0.184627	1	0
RP1L1	94137	broad.mit.edu	37	8	10468702	10468702	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:10468702A>T	ENST00000382483.3	-	4	3129	c.2906T>A	c.(2905-2907)aTa>aAa	p.I969K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	969					intracellular signal transduction			p.I969K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGTCATGAGTATGGGCTCTTC	0.627000													9	80					0	0	0.307466	0	0
SLC9A6	10479	broad.mit.edu	37	X	135098852	135098852	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:135098852A>G	ENST00000370695.4	+	10	1320	c.1285A>G	c.(1285-1287)Atg>Gtg	p.M429V	SLC9A6_ENST00000370698.3_Missense_Mutation_p.M397V|SLC9A6_ENST00000370701.1_Missense_Mutation_p.M377V	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	397					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.M397V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTCTCCTACATGGGGCTGAC	0.333000													4	28					0	0	0.217242	0	0
FLT1	2321	broad.mit.edu	37	13	29008344	29008344	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:29008344G>A	ENST00000282397.4	-	5	778	c.527C>T	c.(526-528)aCt>aTt	p.T176I	FLT1_ENST00000539099.1_Missense_Mutation_p.T176I|FLT1_ENST00000541932.1_Missense_Mutation_p.T176I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	176	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.T176I(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGGGATCAAAGTGTCAAGTGG	0.413000													9	38					0	0	0.335167	0	0
GAP43	2596	broad.mit.edu	37	3	115395290	115395290	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:115395290C>T	ENST00000393780.3	+	3	1037	c.569C>T	c.(568-570)tCc>tTc	p.S190F	GAP43_ENST00000305124.6_Missense_Mutation_p.S154F	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	154					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	p.S190F(1)|p.S154F(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		TCGCCGTCCTCCAAGGCTGAA	0.612000													5	33					0	0	0.184627	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457994	42457994	+	Nonsense_Mutation	SNP	G	G	T	rs78218617		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:42457994G>T	ENST00000262407.5	-	14	1444	c.1413C>A	c.(1411-1413)taC>taA	p.Y471*	ITGA2B_ENST00000353281.4_Nonsense_Mutation_p.Y471*|ITGA2B_ENST00000377068.3_3'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	471					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.Y471*(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GGTTGGCCCCGTAAGCTCCCA	0.602000													3	43					0.00024832	0.000328157	0.150653	1	0
HSP90AA1	3320	broad.mit.edu	37	14	102548655	102548655	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:102548655T>C	ENST00000334701.7	-	11	2529	c.2248A>G	c.(2248-2250)Atg>Gtg	p.M750V	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.M628V	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	628					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	p.M750V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TTTGCTGCCATGTAACCCATT	0.443000													15	96					0	0	0.479597	0	0
TECRL	253017	broad.mit.edu	37	4	65188442	65188442	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:65188442C>A	ENST00000381210.3	-	4	510	c.400G>T	c.(400-402)Gct>Tct	p.A134S	TECRL_ENST00000507440.1_Missense_Mutation_p.A134S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	134					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.A134S(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGGTCTGTAGCATACAGTGTG	0.318000													3	34					0.00909568	0.0104325	0.150653	1	0
RYR2	6262	broad.mit.edu	37	1	237777524	237777524	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237777524G>C	ENST00000366574.2	+	37	5413	c.5096G>C	c.(5095-5097)cGt>cCt	p.R1699P	RYR2_ENST00000542537.1_Missense_Mutation_p.R1683P|RYR2_ENST00000360064.6_Missense_Mutation_p.R1697P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1699	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R1697P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTTTGCTGCGTGCTGGCTAC	0.552000													3	29					0	0	0.115264	0	0
ZNF440	126070	broad.mit.edu	37	19	11943196	11943196	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:11943196G>T	ENST00000304060.5	+	4	1369	c.1205G>T	c.(1204-1206)gGg>gTg	p.G402V		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G402V(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAGCAATGTGGGAAAGCCTTC	0.458000													16	52					2.72e-22	5.56035e-22	0.539581	1	0
FAT3	120114	broad.mit.edu	37	11	92616229	92616229	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:92616229A>T	ENST00000298047.6	+	23	12624	c.12607A>T	c.(12607-12609)Aag>Tag	p.K4203*	FAT3_ENST00000533797.1_Nonsense_Mutation_p.K538*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.K4203*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.K4053*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4203					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.K4203*(2)|p.K778*(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTGCTTAACAAGAGCAATGG	0.642000										TCGA Ovarian(4;0.039)			6	68					0	0	0.278610	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609145	84609145	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:84609145G>A	ENST00000344803.2	+	4	3807	c.3760G>A	c.(3760-3762)Gtg>Atg	p.V1254M		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.V1254M(2)									AACTTCCCAGGTGGTGCATGT	0.502000													34	96					0	0	0.760397	0	0
PXDNL	137902	broad.mit.edu	37	8	52320839	52320839	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:52320839G>C	ENST00000356297.4	-	17	3445	c.3345C>G	c.(3343-3345)tcC>tcG	p.S1115S	PXDNL_ENST00000543296.1_Silent_p.S1115S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1115					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.S1115S(1)|p.S314S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGAGAAGGTAGGAGGGTGCCC	0.572000													5	74					0	0	0.184627	0	0
PDE10A	10846	broad.mit.edu	37	6	165801923	165801923	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:165801923G>T	ENST00000366882.1	-	18	1800	c.1646C>A	c.(1645-1647)gCg>gAg	p.A549E	PDE10A_ENST00000539869.2_Missense_Mutation_p.A559E|PDE10A_ENST00000354448.4_Missense_Mutation_p.A549E			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	549					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.A549E(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ACACAGACACGCAATCAGCAG	0.483000													9	61					3.09899e-07	5.07706e-07	0.307466	1	0
MACF1	23499	broad.mit.edu	37	1	39853090	39853090	+	Missense_Mutation	SNP	C	C	G	rs151008241		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:39853090C>G	ENST00000564288.1	+	58	15353	c.14576C>G	c.(14575-14577)tCt>tGt	p.S4859C	MACF1_ENST00000361689.2_Missense_Mutation_p.S2797C|MACF1_ENST00000372915.3_Missense_Mutation_p.S4864C|MACF1_ENST00000567887.1_Missense_Mutation_p.S4896C|MACF1_ENST00000289893.4_Missense_Mutation_p.S3299C|MACF1_ENST00000545844.1_Missense_Mutation_p.S2797C|MACF1_ENST00000539005.1_Missense_Mutation_p.S2776C|MACF1_ENST00000317713.7_Missense_Mutation_p.S2797C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4864					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S2797C(1)|p.S3299C(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGGGGAATCTCTACTTCTT	0.433000													10	149					0	0	0.335167	0	0
EIF3F	8665	broad.mit.edu	37	11	8008860	8008860	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:8008860T>C	ENST00000537635.1	+	1	424	c.6T>C	c.(4-6)aaT>aaC	p.N2N	EIF3F_ENST00000533626.1_5'UTR			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	0						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TATTCATGAATGCTGTCATTT	0.527000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	154					0	0	0.457914	0	0
PLCB1	23236	broad.mit.edu	37	20	8782749	8782749	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:8782749C>A	ENST00000378641.3	+	32	3945	c.3470C>A	c.(3469-3471)cCc>cAc	p.P1157H	PLCB1_ENST00000338037.6_Intron|PLCB1_ENST00000378637.2_Missense_Mutation_p.P1157H	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.P1157H(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CATGAGGATCCCTCTGTTTCC	0.517000													9	40					1.33987e-11	2.54531e-11	0.361761	1	0
ZNF407	55628	broad.mit.edu	37	18	72345910	72345910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:72345910G>T	ENST00000299687.5	+	1	2935	c.2935G>T	c.(2935-2937)Gga>Tga	p.G979*	ZNF407_ENST00000582337.1_Nonsense_Mutation_p.G979*|ZNF407_ENST00000309902.6_Nonsense_Mutation_p.G979*|ZNF407_ENST00000577538.1_Nonsense_Mutation_p.G979*	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G979L(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTCTCTAGATGGAGAAGTTAA	0.448000													12	31					0.000978159	0.00122006	0.387290	1	0
ZNF474	133923	broad.mit.edu	37	5	121487812	121487812	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:121487812C>A	ENST00000296600.4	+	2	510	c.127C>A	c.(127-129)Cca>Aca	p.P43T	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	43						intracellular	zinc ion binding	p.P43T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		TAGCCTTTCCCCAGAAACAGA	0.388000													11	96					2.80697e-09	5.05781e-09	0.387290	1	0
RGS7	6000	broad.mit.edu	37	1	240975308	240975308	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:240975308C>A	ENST00000366565.1	-	14	1373	c.992G>T	c.(991-993)gGt>gTt	p.G331V	RGS7_ENST00000446183.2_Missense_Mutation_p.G247V|RGS7_ENST00000366564.1_Missense_Mutation_p.G331V|RGS7_ENST00000366563.1_Missense_Mutation_p.G331V|RGS7_ENST00000401882.1_Missense_Mutation_p.G278V|RGS7_ENST00000331110.7_Missense_Mutation_p.G305V|RGS7_ENST00000407727.1_Missense_Mutation_p.G331V|RGS7_ENST00000366562.4_Missense_Mutation_p.G331V|RGS7_ENST00000348120.2_Missense_Mutation_p.G278V	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	331					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.G331F(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CATGCCAAAACCCCATCGTTT	0.383000													8	78					3.09899e-07	5.07706e-07	0.307466	1	0
PALLD	23022	broad.mit.edu	37	4	169611826	169611826	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:169611826C>T	ENST00000335742.7	+	7	1619	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L	PALLD_ENST00000505667.1_Silent_p.L470L|PALLD_ENST00000333488.4_Silent_p.L347L|PALLD_ENST00000261509.6_Silent_p.L470L|PALLD_ENST00000512127.1_Silent_p.L88L			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	470					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.L88L(1)|p.L470L(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GGCACCCCCTCTGCAGGTCCA	0.527000									Pancreatic Cancer, Familial Clustering of				10	79					0	0	0.411799	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177796	89177796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:89177796G>T	ENST00000561129.2	+	1	842	c.712G>T	c.(712-714)Gag>Tag	p.E238*	TGIF2LX_ENST00000283891.5_Nonsense_Mutation_p.E238*			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	238						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E238*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GAAGAAGCAAGAGCCTAATCC	0.478000													4	22					0.184627	0.190397	0.184627	1	0
ZNF24	7572	broad.mit.edu	37	18	32920295	32920295	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:32920295T>C	ENST00000589881.1	-	1	323	c.320A>G	c.(319-321)gAg>gGg	p.E107G	ZNF24_ENST00000261332.6_Missense_Mutation_p.E107G|ZNF24_ENST00000399061.3_Missense_Mutation_p.E107G			P17028	ZNF24_HUMAN	zinc finger protein 24	107	SCAN box.				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						AGTCTGTAGCTCTTTGGGTAG	0.517000													7	259					0	0	0.248553	0	0
OR52N5	390075	broad.mit.edu	37	11	5799256	5799256	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:5799256G>T	ENST00000317093.2	-	1	641	c.609C>A	c.(607-609)gtC>gtA	p.V203V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V203V(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGATTACATTGACCTTGATGC	0.423000													7	53					0.000274275	0.000358763	0.307466	1	0
GLI3	2737	broad.mit.edu	37	7	42005086	42005086	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:42005086G>A	ENST00000395925.3	-	15	3669	c.3585C>T	c.(3583-3585)aaC>aaT	p.N1195N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1195					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1195N(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGACCATGCCGTTGCAGAACC	0.667000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				8	104					0	0	0.307466	0	0
DMD	1756	broad.mit.edu	37	X	32862918	32862918	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:32862918C>A	ENST00000357033.4	-	4	452	c.246G>T	c.(244-246)cgG>cgT	p.R82R	DMD_ENST00000288447.4_Silent_p.R74R|DMD_ENST00000378677.2_Silent_p.R78R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	82	Actin-binding.|CH 1.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R82R(1)|p.R78R(1)|p.R77R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTGCAAAACCCGCAGTGCCT	0.463000													4	15					0.000602214	0.000761004	0.184627	1	0
RASGRP4	115727	broad.mit.edu	37	19	38910858	38910858	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:38910858T>A	ENST00000454404.2	-	5	635	c.422A>T	c.(421-423)cAg>cTg	p.Q141L	RASGRP4_ENST00000586305.1_Missense_Mutation_p.Q141L|RASGRP4_ENST00000587738.1_Missense_Mutation_p.Q141L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.Q141L|RASGRP4_ENST00000293062.9_Missense_Mutation_p.Q141L|RASGRP4_ENST00000426920.2_Missense_Mutation_p.Q141L|RASGRP4_ENST00000587753.1_Missense_Mutation_p.Q141L	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	141	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	p.Q141L(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTCTTCTAGCTGGGGATCCTG	0.587000													6	13					0	0	0.217242	0	0
RBM19	9904	broad.mit.edu	37	12	114377880	114377880	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:114377880C>A	ENST00000545145.2	-	15	1901	c.1823G>T	c.(1822-1824)gGc>gTc	p.G608V	RBM19_ENST00000261741.5_Missense_Mutation_p.G608V|RBM19_ENST00000392561.3_Missense_Mutation_p.G608V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	608	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.G608V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCCAAAATGGCCGAAGGTCTC	0.632000													14	66					1.52009e-12	2.94581e-12	0.479597	1	0
TF	7018	broad.mit.edu	37	3	133494456	133494456	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:133494456C>A	ENST00000402696.3	+	15	2352	c.1867C>A	c.(1867-1869)Cag>Aag	p.Q623K	TF_ENST00000264998.3_Missense_Mutation_p.Q496K	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	623	Transferrin-like 2.				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	p.Q623K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	ATTACGTCAACAGCAGGTATG	0.537000													4	47					0.00024832	0.000328157	0.150653	1	0
ANK2	287	broad.mit.edu	37	4	114276332	114276332	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:114276332G>T	ENST00000357077.4	+	38	6611	c.6558G>T	c.(6556-6558)gaG>gaT	p.E2186D	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2153D|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2153					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.E2186D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAAGATGAGTTCCTTCCAG	0.493000													8	40					3.09899e-07	5.07706e-07	0.307466	1	0
PLB1	151056	broad.mit.edu	37	2	28755041	28755041	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:28755041C>T	ENST00000422425.2	+	9	579	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	PLB1_ENST00000327757.5_Silent_p.L179L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	179	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.L179L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCAGTGTTACCTGTGCCCCTC	0.468000													19	115					0	0	0.557998	0	0
GAD2	2572	broad.mit.edu	37	10	26506831	26506831	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:26506831C>A	ENST00000376261.3	+	3	700	c.197C>A	c.(196-198)gCc>gAc	p.A66D	GAD2_ENST00000259271.3_Missense_Mutation_p.A66D	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	66					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.A66D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	cccccgcgggccgccgcccgg	0.667000													4	7					0.00909568	0.0104325	0.150653	1	0
OR51T1	401665	broad.mit.edu	37	11	4904034	4904034	+	Missense_Mutation	SNP	G	G	T	rs151076376	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:4904034G>T	ENST00000380378.1	+	1	986	c.986G>T	c.(985-987)cGc>cTc	p.R329L	OR51T1_ENST00000322049.1_Missense_Mutation_p.R302L|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R302L(1)|p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGACAATCCGCCAGGCTATG	0.483000													5	54					0.000602214	0.000761004	0.184627	1	0
PTPRD	5789	broad.mit.edu	37	9	8528611	8528611	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:8528611C>A	ENST00000381196.4	-	12	1064	c.521G>T	c.(520-522)cGt>cTt	p.R174L	PTPRD_ENST00000463477.1_Missense_Mutation_p.R174L|PTPRD_ENST00000397611.3_Missense_Mutation_p.R174L|PTPRD_ENST00000397606.3_Missense_Mutation_p.R174L|PTPRD_ENST00000360074.4_Missense_Mutation_p.R174L|PTPRD_ENST00000355233.5_Missense_Mutation_p.R174L|PTPRD_ENST00000486161.1_Missense_Mutation_p.R174L|PTPRD_ENST00000397617.3_Missense_Mutation_p.R174L|PTPRD_ENST00000540109.1_Missense_Mutation_p.R174L|PTPRD_ENST00000537002.1_Missense_Mutation_p.R174L|PTPRD_ENST00000358503.5_Missense_Mutation_p.R174L|PTPRD_ENST00000356435.5_Missense_Mutation_p.R174L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	174	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R174L(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGCTTAATACGACCATTGTT	0.378000										TSP Lung(15;0.13)			9	102					0.000673444	0.000844547	0.361761	1	0
MEGF10	84466	broad.mit.edu	37	5	126667014	126667014	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:126667014T>G	ENST00000274473.6	+	3	281	c.14T>G	c.(13-15)tTg>tGg	p.L5W	MEGF10_ENST00000418761.2_Missense_Mutation_p.L5W|MEGF10_ENST00000508365.1_Missense_Mutation_p.L5W|MEGF10_ENST00000503335.2_Missense_Mutation_p.L5W	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	5	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.L5W(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTTATTTCTTTGAACTCATGC	0.368000													8	46					0	0	0.278610	0	0
PREX1	57580	broad.mit.edu	37	20	47265980	47265980	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:47265980C>A	ENST00000396220.1	-	25	3185	c.3163G>T	c.(3163-3165)Ggg>Tgg	p.G1055W	PREX1_ENST00000371941.3_Missense_Mutation_p.G1055W			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1055					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.G1055W(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCAAGGGTCCCACTGGCTGGC	0.612000													7	46					0.27861	0.28402	0.278610	1	0
OR4D11	219986	broad.mit.edu	37	11	59271283	59271283	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:59271283C>T	ENST00000313253.1	+	1	235	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79S(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CACAACTGCTCCTAAAGTCTT	0.498000													18	94					0	0	0.520397	0	0
RYR3	6263	broad.mit.edu	37	15	34015046	34015046	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:34015046C>A	ENST00000389232.4	+	44	6820	c.6750C>A	c.(6748-6750)atC>atA	p.I2250I	RYR3_ENST00000415757.3_Silent_p.I2250I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2250	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.I2250I(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATTAAGATCTCTGAGAACC	0.577000													7	82					2.0095e-06	3.14069e-06	0.248553	1	0
GUCY2F	2986	broad.mit.edu	37	X	108631743	108631743	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:108631743G>T	ENST00000218006.2	-	15	3222	c.2931C>A	c.(2929-2931)gtC>gtA	p.V977V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	977	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.V977V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTCGAATTCGGACCGGCACTT	0.448000													16	62					4.14922e-12	8.00058e-12	0.500413	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801377	185801377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:185801377C>A	ENST00000302277.6	+	4	1848	c.1254C>A	c.(1252-1254)tgC>tgA	p.C418*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	418						intracellular	zinc ion binding	p.C418*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAAATTTCTGCAAAAGACAAT	0.378000													9	110					0.000274275	0.000358763	0.307466	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532474	84532474	+	RNA	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:84532474G>T	ENST00000527857.1	+	0	2496					NR_026851.1																						AATGACTCAGGGGTGAGACTA	0.448000													4	34					0.184627	0.190397	0.184627	1	0
OR10G2	26534	broad.mit.edu	37	14	22102200	22102200	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:22102200C>A	ENST00000542433.1	-	1	896	c.799G>T	c.(799-801)Gct>Tct	p.A267S		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A267S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTGGAGCCAGCCCTAAGGTAG	0.552000													9	37					1.76689e-08	3.09206e-08	0.335167	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69049695	69049695	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:69049695C>A	ENST00000295381.3	+	10	1840	c.1421C>A	c.(1420-1422)tCa>tAa	p.S474*	ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.S467*|ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.S468*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.S435*|ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.S168*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.S475*	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	474					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S468L(1)|p.S475L(1)|p.S475*(1)|p.S468*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCGCCTTCCTCAGAGGCTAAG	0.493000													18	68					8.28177e-16	1.64921e-15	0.557998	1	0
SLC22A25	387601	broad.mit.edu	37	11	62931450	62931450	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:62931450G>T	ENST00000306494.6	-	9	1489	c.1490C>A	c.(1489-1491)cCc>cAc	p.P497H	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	497					transmembrane transport	integral to membrane		p.P497H(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GATGATCCAGGGCAGGGGTCG	0.512000													13	86					1.5842e-08	2.79351e-08	0.435327	1	0
FCER1A	2205	broad.mit.edu	37	1	159272653	159272653	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:159272653G>T	ENST00000368115.1	+	3	164	c.65G>T	c.(64-66)gGc>gTc	p.G22V	FCER1A_ENST00000368114.1_Missense_Mutation_p.G22V	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	22						integral to plasma membrane		p.G22V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GCTCCAGATGGCGTGTTAGCA	0.468000													17	126					1.01871e-10	1.90699e-10	0.575678	1	0
CD1B	910	broad.mit.edu	37	1	158299803	158299803	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:158299803C>A	ENST00000368168.3	-	3	553	c.446G>T	c.(445-447)tGt>tTt	p.C149F		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	149					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.C149F(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGAAGGCACACATGAAGCATT	0.473000													28	119					2.4375e-19	4.93049e-19	0.717897	1	0
WDR62	284403	broad.mit.edu	37	19	36558728	36558728	+	Splice_Site	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36558728A>T	ENST00000401500.2	+	7	734		c.e7-1		WDR62_ENST00000270301.7_Splice_Site|WDR62_ENST00000388999.3_Splice_Site|WDR62_ENST00000378860.4_Splice_Site	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62						cerebral cortex development	nucleus		p.?(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGTGTCTCCAGGTGACGAGC	0.582000													11	45					0	0	0.387290	0	0
WNT9B	7484	broad.mit.edu	37	17	44953934	44953934	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:44953934G>T	ENST00000290015.2	+	4	977	c.924G>T	c.(922-924)gaG>gaT	p.E308D	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	308					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	p.E308D(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTCCCGGGAGGCCAGCTGCA	0.667000													5	49					2.7689e-08	4.80914e-08	0.248553	1	0
CHRND	1144	broad.mit.edu	37	2	233398755	233398755	+	Nonsense_Mutation	SNP	G	G	T	rs145920855		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:233398755G>T	ENST00000258385.3	+	10	1194	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*	CHRND_ENST00000543200.1_Nonsense_Mutation_p.E373*|CHRND_ENST00000457943.2_Nonsense_Mutation_p.E194*	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	388					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.E388*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CTCCAAGGCCGAGGAGTACTT	0.662000													9	74					1.76689e-08	3.09206e-08	0.335167	1	0
DOLPP1	57171	broad.mit.edu	37	9	131847036	131847036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:131847036G>T	ENST00000372546.4	+	2	198	c.166G>T	c.(166-168)Gag>Tag	p.E56*	DOLPP1_ENST00000406974.3_Nonsense_Mutation_p.E56*|DOLPP1_ENST00000540102.1_5'UTR	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	56					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	p.E56*(1)		endometrium(3)|kidney(2)|lung(7)|skin(1)	13						ATTTAAGCGGGAGCTGCACAC	0.607000													9	187					0.000442599	0.000573097	0.335167	1	0
OXR1	55074	broad.mit.edu	37	8	107691480	107691480	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:107691480G>A	ENST00000445937.1	+	4	524	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	OXR1_ENST00000497705.1_Missense_Mutation_p.R21Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Missense_Mutation_p.R81Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R88Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R88Q|OXR1_ENST00000442977.2_Missense_Mutation_p.R89Q	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	89					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.R89Q(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GATGGAAGACGAATGTCTTTT	0.338000													7	43					0	0	0.307466	0	0
OR2D3	120775	broad.mit.edu	37	11	6942649	6942649	+	Silent	SNP	T	T	C	rs146817618		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:6942649T>C	ENST00000317834.3	+	1	445	c.417T>C	c.(415-417)taT>taC	p.Y139Y		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y139Y(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGACCGGTATGTGGCTGTCT	0.502000													6	91					0	0	0.278610	0	0
TTN	7273	broad.mit.edu	37	2	179585355	179585355	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:179585355C>G	ENST00000589042.1	-	80	23358	c.23134G>C	c.(23134-23136)Gga>Cga	p.G7712R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G7395R|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6468R|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7395	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G6468R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAAGAGCTCCTACTGGAGAA	0.383000													3	11					0	0	0.150653	0	0
BRINP2	57795	broad.mit.edu	37	1	177249846	177249846	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:177249846C>G	ENST00000361539.4	+	8	1846	c.1534C>G	c.(1534-1536)Ctg>Gtg	p.L512V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		512						extracellular region		p.L512V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTTGCAGGACCTGGAGCTAAA	0.587000													5	36					0	0	0.184627	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169696	207169696	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:207169696C>A	ENST00000374423.3	+	5	830	c.444C>A	c.(442-444)ccC>ccA	p.P148P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	148							nucleic acid binding|zinc ion binding	p.P148P(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCAGCAGCCCTTGGAGTTTG	0.448000													9	16					0.0477658	0.0513204	0.307466	1	0
CDK5	1020	broad.mit.edu	37	7	150752434	150752434	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:150752434C>A	ENST00000485972.1	-	8	1191	c.510G>T	c.(508-510)ccG>ccT	p.P170P	CDK5_ENST00000297518.4_Silent_p.P138P	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	170	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	p.P170P(1)		central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		AGAGGACATCCGGTGGGCGGT	0.612000													3	35					0.115264	0.121914	0.115264	1	0
COL5A2	1290	broad.mit.edu	37	2	189931133	189931133	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:189931133C>A	ENST00000374866.3	-	23	1820	c.1546G>T	c.(1546-1548)Ggg>Tgg	p.G516W		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	516					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G516W(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCACTGGCCCTGGAGGACCA	0.463000													50	139					6.3008e-33	1.3042e-32	0.870114	1	0
MYO3A	53904	broad.mit.edu	37	10	26286106	26286106	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:26286106A>T	ENST00000265944.5	+	6	593	c.427A>T	c.(427-429)Aac>Tac	p.N143Y	MYO3A_ENST00000376301.1_Missense_Mutation_p.N143Y|MYO3A_ENST00000376302.1_Missense_Mutation_p.N143Y|MYO3A_ENST00000543632.1_Missense_Mutation_p.N143Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	143	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.N143Y(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACATTTGCATAACAACAAAAC	0.313000													3	46					0	0	0.150653	0	0
KMT2B	9757	broad.mit.edu	37	19	36227603	36227603	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36227603G>T	ENST00000420124.1	+	31	7172	c.7172G>T	c.(7171-7173)aGc>aTc	p.S2391I	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.S2391I														p.S2393I(1)									GAGGCTTCGAGCTCTGAGGAA	0.582000													5	19					0.000602214	0.000761004	0.184627	1	0
CYP24A1	1591	broad.mit.edu	37	20	52782353	52782353	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:52782353A>T	ENST00000216862.3	-	5	1053	c.660T>A	c.(658-660)taT>taA	p.Y220*	CYP24A1_ENST00000395954.3_Nonsense_Mutation_p.Y78*|CYP24A1_ENST00000395955.3_Nonsense_Mutation_p.Y220*	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	220					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.Y220*(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ATCTCTTCTCATACAACACGA	0.403000													5	54					0	0	0.184627	0	0
NOVA2	4858	broad.mit.edu	37	19	46443365	46443365	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:46443365G>A	ENST00000263257.5	-	4	1429	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	412	KH 3.					nucleus	RNA binding	p.A412V(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CTCAGGCACCGCAATCTCCAC	0.692000													4	100					0	0	0.184627	0	0
DZIP1L	199221	broad.mit.edu	37	3	137822353	137822353	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:137822353T>A	ENST00000327532.2	-	2	823	c.461A>T	c.(460-462)cAg>cTg	p.Q154L	DZIP1L_ENST00000469243.1_Missense_Mutation_p.Q154L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	154						intracellular	zinc ion binding	p.Q154L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TAGCAGCTGCTGCAGGGTGCT	0.657000													4	19					0	0	0.150653	0	0
ZNF831	128611	broad.mit.edu	37	20	57766799	57766799	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:57766799C>T	ENST00000371030.2	+	1	725	c.725C>T	c.(724-726)tCg>tTg	p.S242L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	242						intracellular	nucleic acid binding|zinc ion binding	p.S242L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAAGGCGCCTCGGAGAGACCC	0.687000													6	67					0	0	0.217242	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151247379	151247379	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:151247379G>T	ENST00000367321.3	+	11	1478	c.1204G>T	c.(1204-1206)Gtg>Ttg	p.V402L		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	402	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	p.V402M(1)|p.V402L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACGTTTGTCCGTGCTAGAAAG	0.398000													6	77					0.0215528	0.0235957	0.217242	1	0
KMT2C	58508	broad.mit.edu	37	7	151904477	151904477	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:151904477G>T	ENST00000355193.2	-	24	3967	c.3749C>A	c.(3748-3750)tCt>tAt	p.S1250Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.S1250Y					lysine (K)-specific methyltransferase 2C									p.S1250Y(2)									CTCAGGACTAGATTCTGATTT	0.373000													8	56					0.000442599	0.000573097	0.335167	1	0
PRKD3	23683	broad.mit.edu	37	2	37543459	37543459	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:37543459C>A	ENST00000379066.1	-	2	971	c.209G>T	c.(208-210)cGg>cTg	p.R70L	PRKD3_ENST00000234179.2_Missense_Mutation_p.R70L			O94806	KPCD3_HUMAN	protein kinase D3	70					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.R70L(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AACACTCTCCCGTGTGAGGCC	0.458000													15	76					1.02788e-11	1.95909e-11	0.520397	1	0
SLC5A11	115584	broad.mit.edu	37	16	24888606	24888606	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:24888606A>T	ENST00000347898.3	+	7	1127	c.505A>T	c.(505-507)Atc>Ttc	p.I169F	SLC5A11_ENST00000545376.1_Missense_Mutation_p.I99F|SLC5A11_ENST00000424767.2_Missense_Mutation_p.I134F|SLC5A11_ENST00000449109.2_Missense_Mutation_p.I105F|SLC5A11_ENST00000539472.1_Missense_Mutation_p.I105F|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I105F|SLC5A11_ENST00000567758.1_Missense_Mutation_p.I134F|SLC5A11_ENST00000565769.1_Missense_Mutation_p.I105F|SLC5A11_ENST00000568579.1_Missense_Mutation_p.I99F	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	169					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.I169F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCATCTTCATCCAGCAGTC	0.468000													18	299					0	0	0.575678	0	0
CDH24	64403	broad.mit.edu	37	14	23517554	23517554	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:23517554C>A	ENST00000397359.3	-	13	2354	c.2095G>T	c.(2095-2097)Gac>Tac	p.D699Y	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.D661Y|CDH24_ENST00000267383.5_Missense_Mutation_p.D699Y|CDH24_ENST00000487137.2_Missense_Mutation_p.D661Y	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	699					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	p.D661Y(1)|p.D699Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCCGTGATGTCGAAGGCCTCG	0.711000													18	78					4.96729e-08	8.55025e-08	0.575678	1	0
DGKB	1607	broad.mit.edu	37	7	14613905	14613905	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:14613905T>C	ENST00000403951.2	-	20	2124	c.1705A>G	c.(1705-1707)Aat>Gat	p.N569D	DGKB_ENST00000407950.1_Missense_Mutation_p.N561D|DGKB_ENST00000406247.3_Missense_Mutation_p.N569D|DGKB_ENST00000402815.1_Missense_Mutation_p.N568D|DGKB_ENST00000258767.5_Missense_Mutation_p.N569D|DGKB_ENST00000399322.3_Missense_Mutation_p.N569D|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.N550D			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	569					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.N569D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TCTTTGTCATTAGGTATGACT	0.378000													25	122					0	0	0.654019	0	0
ZNF334	55713	broad.mit.edu	37	20	45130108	45130108	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:45130108C>A	ENST00000457685.2	-	6	3079	c.1756G>T	c.(1756-1758)Gga>Tga	p.G586*	ZNF334_ENST00000593880.1_Nonsense_Mutation_p.G647*|ZNF334_ENST00000347606.4_Nonsense_Mutation_p.G624*			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G624*(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGTTTCTCTCCTGTGTGAATT	0.428000													13	74					1.5842e-08	2.79351e-08	0.435327	1	0
ASB16	92591	broad.mit.edu	37	17	42248402	42248402	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:42248402C>A	ENST00000293414.1	+	1	329	c.245C>A	c.(244-246)gCc>gAc	p.A82D		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	82					intracellular signal transduction		protein binding	p.A82D(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GATGAAGAGGCCGCCAACATG	0.602000													7	20					8.12818e-05	0.000111763	0.248553	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37418836	37418836	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:37418836G>T	ENST00000374660.1	+	2	168	c.69G>T	c.(67-69)tgG>tgT	p.W23C	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.W23C|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.W23C			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	79						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.W23C(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTCTACACTGGGCCTGTGTCA	0.443000													4	14					0.150653	0.156761	0.150653	1	0
XIRP2	129446	broad.mit.edu	37	2	168102148	168102148	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:168102148G>A	ENST00000409195.1	+	9	4335	c.4246G>A	c.(4246-4248)Ggc>Agc	p.G1416S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1416S|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1194S|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1241					actin cytoskeleton organization	cell junction	actin binding	p.G1416S(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATACAAGGTGGCAATGTAAA	0.333000													10	24					0	0	0.335167	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336559	30336559	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:30336559C>G	ENST00000375377.1	-	2	284	c.183G>C	c.(181-183)gcG>gcC	p.A61A		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	61								p.A61A(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTCCTTTCCCCGCGGACGTCT	0.677000													7	58					0	0	0.278610	0	0
OR52R1	119695	broad.mit.edu	37	11	4824945	4824945	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:4824945C>A	ENST00000380382.1	-	1	902	c.903G>T	c.(901-903)gtG>gtT	p.V301V	OR52R1_ENST00000356069.2_Silent_p.V222V|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V221V(1)|p.V301V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAAAATCATCACGTATGACA	0.468000													3	36					0.150653	0.156761	0.150653	1	0
TAS1R2	80834	broad.mit.edu	37	1	19180801	19180801	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:19180801A>T	ENST00000375371.3	-	3	1184	c.1163T>A	c.(1162-1164)gTg>gAg	p.V388E	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	388					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.V388E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGCAGAGTACACGCTGTAGAC	0.592000													3	23					0	0	0.115264	0	0
NID1	4811	broad.mit.edu	37	1	236180456	236180456	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:236180456G>T	ENST00000264187.6	-	10	2328	c.2246C>A	c.(2245-2247)aCg>aAg	p.T749K	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	749	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding	p.T749K(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	ACCCACACACGTTCCCTCATC	0.483000													14	77					0.00316338	0.00378622	0.479597	1	0
THSD1	55901	broad.mit.edu	37	13	52952445	52952445	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:52952445C>A	ENST00000349258.4	-	4	2045	c.1501G>T	c.(1501-1503)Gtg>Ttg	p.V501L	THSD1_ENST00000544466.1_Missense_Mutation_p.V175L|THSD1_ENST00000258613.4_Missense_Mutation_p.V554L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	554						extracellular region|integral to membrane|intracellular membrane-bounded organelle		p.V554L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCTGAGACACGTGATACACT	0.517000													22	91					7.87624e-14	1.5524e-13	0.639603	1	0
ZNF846	162993	broad.mit.edu	37	19	9868262	9868262	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:9868262T>C	ENST00000397902.2	-	6	1904	c.1491A>G	c.(1489-1491)acA>acG	p.T497T	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T497T(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TGTGAGTTCGTGTGTGAACGT	0.403000													12	80					0	0	0.387290	0	0
OR5F1	338674	broad.mit.edu	37	11	55761380	55761380	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:55761380C>A	ENST00000278409.1	-	1	721	c.722G>T	c.(721-723)tGt>tTt	p.C241F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C241F(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGAGAGGCACACGTGGAGAA	0.507000													4	37					0.000602214	0.000761004	0.184627	1	0
ZNF585A	199704	broad.mit.edu	37	19	37643910	37643910	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:37643910T>A	ENST00000356958.4	-	5	1149	c.891A>T	c.(889-891)ccA>ccT	p.P297P	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Silent_p.P242P|ZNF585A_ENST00000355533.2_Silent_p.P242P|ZNF585A_ENST00000392157.2_Silent_p.P242P			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.P242P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCACTCATATGGTTTTTCTC	0.428000													47	175					0	0	0.870114	0	0
ABL2	27	broad.mit.edu	37	1	179077507	179077507	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:179077507C>A	ENST00000502732.1	-	12	3098	c.2895G>T	c.(2893-2895)caG>caT	p.Q965H	ABL2_ENST00000507173.1_Missense_Mutation_p.Q841H|ABL2_ENST00000344730.3_Missense_Mutation_p.Q847H|ABL2_ENST00000504405.1_Missense_Mutation_p.Q826H|ABL2_ENST00000512653.1_Missense_Mutation_p.Q950H|ABL2_ENST00000367623.4_Missense_Mutation_p.Q944H|ABL2_ENST00000408940.3_Missense_Mutation_p.Q929H|ABL2_ENST00000511413.1_Missense_Mutation_p.Q862H	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	965	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.Q929H(1)|p.Q965H(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGGATGTGACCTGATGCTCAG	0.532000			T	ETV6	AML								12	51					7.03913e-09	1.24888e-08	0.411799	1	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													6	53					0	0	0.248553	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577045	158577045	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:158577045C>G	ENST00000361284.1	+	1	817	c.817C>G	c.(817-819)Ctt>Gtt	p.L273V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L273V(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGAGATCAGCTTATTGCCAT	0.468000													30	209					0	0	0.769981	0	0
OR9K2	441639	broad.mit.edu	37	12	55524048	55524048	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:55524048T>C	ENST00000305377.5	+	1	584	c.496T>C	c.(496-498)Tgt>Cgt	p.C166R		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C166R(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						CACACGTCTGTGTACTCAGTT	0.468000													8	63					0	0	0.307466	0	0
FBN1	2200	broad.mit.edu	37	15	48729176	48729176	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:48729176C>A	ENST00000316623.5	-	53	6933	c.6478G>T	c.(6478-6480)Gca>Tca	p.A2160S		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2160	EGF-like 36; calcium-binding.		A -> P (in MFS).		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	p.A2160S(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATTCCCTGCTAGAATATAA	0.368000													10	43					0.0692343	0.0742485	0.361761	1	0
NLRP12	91662	broad.mit.edu	37	19	54314539	54314539	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:54314539G>C	ENST00000324134.6	-	3	542	c.374C>G	c.(373-375)cCc>cGc	p.P125R	NLRP12_ENST00000535162.1_Missense_Mutation_p.P125R|NLRP12_ENST00000391773.1_Missense_Mutation_p.P125R|NLRP12_ENST00000354278.3_Missense_Mutation_p.P125R|NLRP12_ENST00000345770.5_Missense_Mutation_p.P125R|NLRP12_ENST00000391772.1_Missense_Mutation_p.P125R|NLRP12_ENST00000391775.3_Missense_Mutation_p.P125R|NLRP12_ENST00000351894.4_Missense_Mutation_p.P125R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	125					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.P125R(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTTTCCTGGGGATCTAGGGG	0.537000													9	66					0	0	0.335167	0	0
HERC1	8925	broad.mit.edu	37	15	63955193	63955193	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:63955193C>A	ENST00000443617.2	-	44	8978	c.8891G>T	c.(8890-8892)tGg>tTg	p.W2964L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2964					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.W2964L(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCAGGTAGGCCAATCCAGTAC	0.488000													4	14					0.00909568	0.0104325	0.150653	1	0
RFX3	5991	broad.mit.edu	37	9	3247999	3247999	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:3247999C>A	ENST00000302303.1	-	16	2312	c.2001G>T	c.(1999-2001)tgG>tgT	p.W667C	RFX3_ENST00000358730.2_Missense_Mutation_p.W667C|RFX3_ENST00000382004.3_Intron	NM_002919.2	NP_002910.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	0					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	p.W667C(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTTTAATAACCCAGTGGGTCA	0.438000													7	92					5.18039e-06	7.95659e-06	0.278610	1	0
COL3A1	1281	broad.mit.edu	37	2	189870985	189870985	+	Splice_Site	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:189870985G>A	ENST00000304636.3	+	42	3263	c.3093_splice	c.e42+1	p.K1031_splice	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1031	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.K1031K(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGTGGCAAGGTATAATAAA	0.368000													6	58					0	0	0.248553	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52389711	52389711	+	RNA	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:52389711G>A	ENST00000443374.1	+	0	404																											TTGTAATGCAGATTCTTCCTC	0.498000													3	5					0	0	0.115264	0	0
DNAJC11	55735	broad.mit.edu	37	1	6705159	6705159	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:6705159T>C	ENST00000377577.5	-	9	1045	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	DNAJC11_ENST00000542246.1_Missense_Mutation_p.I270V|DNAJC11_ENST00000294401.7_Missense_Mutation_p.I308V|DNAJC11_ENST00000377573.5_Missense_Mutation_p.I218V|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	308					protein folding		heat shock protein binding|unfolded protein binding	p.I308V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TGATAGCTGATCAGTGCAAAG	0.542000													14	168					0	0	0.539581	0	0
TTLL9	164395	broad.mit.edu	37	20	30512840	30512840	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:30512840G>A	ENST00000375938.4	+	9	946	c.693G>A	c.(691-693)gtG>gtA	p.V231V	TTLL9_ENST00000375921.2_Silent_p.V158V|TTLL9_ENST00000375922.4_Silent_p.V158V|TTLL9_ENST00000375934.4_Silent_p.V213V|TTLL9_ENST00000535842.1_Silent_p.V231V|TTLL9_ENST00000310998.4_Silent_p.V181V			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	231	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	p.V176V(1)|p.V231V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTGTCTATGTGCTGGTGATGT	0.522000													4	23					0	0	0.184627	0	0
KCNK18	338567	broad.mit.edu	37	10	118957067	118957067	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:118957067G>T	ENST00000334549.1	+	1	68	c.68G>T	c.(67-69)gGc>gTc	p.G23V		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	23						integral to membrane|plasma membrane		p.G23V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTCTTCCCTGGCCTCTGCTTC	0.632000													4	49					1.23904e-05	1.83473e-05	0.184627	1	0
SLC7A14	57709	broad.mit.edu	37	3	170198682	170198682	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:170198682A>T	ENST00000231706.4	-	7	1704	c.1389T>A	c.(1387-1389)gcT>gcA	p.A463A	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	463						integral to membrane	amino acid transmembrane transporter activity	p.A463A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAGGAGAACAAGCTTCCTTCT	0.498000													4	60					0	0	0.150653	0	0
CD33	945	broad.mit.edu	37	19	51738451	51738451	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:51738451T>C	ENST00000436584.2	+	4	459	c.404T>C	c.(403-405)aTt>aCt	p.I135T	CD33_ENST00000391796.3_Missense_Mutation_p.I262T|CD33_ENST00000262262.4_Missense_Mutation_p.I262T|CD33_ENST00000421133.2_Missense_Mutation_p.I135T			P20138	CD33_HUMAN	CD33 molecule	262	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.I262T(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CATGGGGCCATTGGAGGAGCT	0.493000													8	39					0	0	0.307466	0	0
CPT1A	1374	broad.mit.edu	37	11	68540772	68540772	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:68540772G>T	ENST00000265641.5	-	14	1855	c.1701C>A	c.(1699-1701)gaC>gaA	p.D567E	CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000539743.1_Missense_Mutation_p.D567E|CPT1A_ENST00000540367.1_Missense_Mutation_p.D567E|CPT1A_ENST00000376618.2_Missense_Mutation_p.D567E	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	567	Coenzyme A binding (By similarity).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.D567E(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCACAAAGGCGTCTGGGCTCG	0.527000													3	30					1.024e-07	1.75218e-07	0.184627	1	0
VSIG4	11326	broad.mit.edu	37	X	65253608	65253608	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:65253608G>T	ENST00000455586.2	-	2	246	c.120C>A	c.(118-120)ccC>ccA	p.P40P	VSIG4_ENST00000374737.4_Silent_p.P40P|VSIG4_ENST00000412866.2_Silent_p.P40P	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	40	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding	p.P40P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATAGGTGCAGGGAAGATTCA	0.537000													8	21					0.0381472	0.0411392	0.278610	1	0
OR4K5	79317	broad.mit.edu	37	14	20389362	20389362	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:20389362T>C	ENST00000315915.4	+	1	622	c.597T>C	c.(595-597)atT>atC	p.I199I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I199I(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATACTAATTGTGGTCAATA	0.408000													18	164					0	0	0.557998	0	0
SEPT10	151011	broad.mit.edu	37	2	110325410	110325410	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:110325410C>T	ENST00000356688.4	-	6	1059	c.744G>A	c.(742-744)aaG>aaA	p.K248K	SEPT10_ENST00000545389.1_Silent_p.K81K|SEPT10_ENST00000437928.1_Silent_p.K233K|SEPT10_ENST00000334001.6_Silent_p.K115K|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000397714.2_Silent_p.K225K|SEPT10_ENST00000397712.2_Silent_p.K248K|SEPT10_ENST00000415095.1_Silent_p.K248K			Q9P0V9	SEP10_HUMAN	septin 10	248					cell cycle|cell division	septin complex	GTP binding	p.K248K(1)|p.K225K(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CAGCGTTGACCTTAGCAATAG	0.373000													5	53					0	0	0.184627	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33527362	33527362	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:33527362G>C	ENST00000504830.1	-	24	5051	c.4716C>G	c.(4714-4716)ccC>ccG	p.P1572P	ADAMTS12_ENST00000352040.3_Silent_p.P1487P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1572	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1572P(4)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTGTGTCTGGGGACACGAGA	0.512000										HNSCC(64;0.19)			22	98					0	0	0.654019	0	0
MMP19	4327	broad.mit.edu	37	12	56234583	56234583	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:56234583G>T	ENST00000322569.4	-	4	479	c.388C>A	c.(388-390)Cgt>Agt	p.R130S	MMP19_ENST00000548629.1_Missense_Mutation_p.R107S|MMP19_ENST00000409200.3_Missense_Mutation_p.R130S	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	130					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R130S(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AAGGCTTGACGCAGGGCTGCC	0.602000													7	80					0.248553	0.253827	0.248553	1	0
OR52K2	119774	broad.mit.edu	37	11	4470650	4470650	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:4470650C>A	ENST00000325719.4	+	1	126	c.81C>A	c.(79-81)atC>atA	p.I27I		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I27I(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCTGCACATCTGGATCTCCA	0.517000													8	57					5.4927e-09	9.80537e-09	0.307466	1	0
SV2B	9899	broad.mit.edu	37	15	91803568	91803568	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:91803568G>A	ENST00000394232.1	+	6	1407	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	SV2B_ENST00000545111.2_Missense_Mutation_p.A162T|SV2B_ENST00000330276.4_Missense_Mutation_p.A313T	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	313					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.A313T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACATGATGAAGCCTGGATGAT	0.463000													10	62					0	0	0.411799	0	0
PLD4	122618	broad.mit.edu	37	14	105398445	105398445	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:105398445C>A	ENST00000540372.1	+	9	1368	c.1176C>A	c.(1174-1176)ccC>ccA	p.P392P	PLD4_ENST00000392593.4_Silent_p.P385P			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	385					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	p.P368P(1)|p.P385P(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	ACACGGACCCCACCATGTTCC	0.711000													3	18					0.115264	0.121914	0.115264	1	0
BRWD1	54014	broad.mit.edu	37	21	40568393	40568393	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:40568393G>A	ENST00000342449.3	-	41	6680	c.6602C>T	c.(6601-6603)aCt>aTt	p.T2201I	BRWD1_ENST00000333229.2_Intron|BRWD1_ENST00000380800.3_Intron	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T2201I(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACGTCTCACAGTTTTAGATAT	0.358000													8	69					0	0	0.307466	0	0
RASSF2	9770	broad.mit.edu	37	20	4778672	4778672	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:4778672T>A	ENST00000379400.3	-	4	314	c.119A>T	c.(118-120)cAg>cTg	p.Q40L	RASSF2_ENST00000379376.2_Missense_Mutation_p.Q40L	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	40					cell cycle|signal transduction	nucleus	protein binding	p.Q40L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GTGCCGGAGCTGTAAATTCTG	0.502000													6	25					0	0	0.217242	0	0
NHLH1	4807	broad.mit.edu	37	1	160340859	160340859	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:160340859A>G	ENST00000302101.5	+	2	784	c.338A>G	c.(337-339)aAg>aGg	p.K113R		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	113	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.K113R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGCTCTCCAAGATTGAGATT	0.622000													11	49					0	0	0.411799	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130340918	130340918	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:130340918C>T	ENST00000299164.2	+	6	1824	c.1824C>T	c.(1822-1824)tcC>tcT	p.S608S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	608	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S608S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	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)		CCAAGTACTCCGGCGTGTCTC	0.617000													6	67					0	0	0.248553	0	0
PCDH15	65217	broad.mit.edu	37	10	55698648	55698648	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:55698648C>A	ENST00000373965.2	-	26	3715	c.3321G>T	c.(3319-3321)agG>agT	p.R1107S	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1078S|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1063S|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1100S|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1029S|PCDH15_ENST00000409834.1_Missense_Mutation_p.R711S|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1107S|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1100S|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1100S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1100S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1105S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1100	Cadherin 10.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R1100S(2)|p.R1105S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATAGCTTGTCCTGGTCTCAT	0.373000										HNSCC(58;0.16)			7	52					5.18039e-06	7.95659e-06	0.278610	1	0
GIMAP8	155038	broad.mit.edu	37	7	150167962	150167962	+	Splice_Site	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:150167962G>C	ENST00000307271.3	+	3	1256	c.682_splice	c.e3+1	p.G228_splice		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	228						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.G228R(1)|p.G228C(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAAGCCACAGGGTAAGTTGAT	0.378000													3	23					0	0	0.150653	0	0
PHACTR3	116154	broad.mit.edu	37	20	58348388	58348388	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:58348388G>T	ENST00000371015.1	+	6	1273	c.806G>T	c.(805-807)cGg>cTg	p.R269L	PHACTR3_ENST00000395639.4_Missense_Mutation_p.R158L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R158L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R228L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R228L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R228L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R266L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	269						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.R269L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCTTCCCTCCGGGGCCAGCTC	0.647000													4	96					0.00116845	0.00143417	0.217242	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121650794	121650794	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:121650794T>C	ENST00000393386.2	+	12	2105	c.1694T>C	c.(1693-1695)aTa>aCa	p.I565T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I565T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	565					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.I565T(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACAGTTTCTATAACAGAATAT	0.418000													5	48					0	0	0.217242	0	0
MAST4	375449	broad.mit.edu	37	5	66460666	66460666	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:66460666C>T	ENST00000404260.3	+	29	5976	c.5668C>T	c.(5668-5670)Cca>Tca	p.P1890S	MAST4_ENST00000405643.1_Missense_Mutation_p.P1708S|MAST4_ENST00000403625.2_Missense_Mutation_p.P1887S|MAST4_ENST00000261569.7_Missense_Mutation_p.P1693S|MAST4_ENST00000403666.1_Missense_Mutation_p.P1698S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1890						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P1890S(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAGAATTCACCAGCAGTTTC	0.542000													7	29					0	0	0.278610	0	0
PDGFRA	5156	broad.mit.edu	37	4	55152085	55152085	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:55152085G>T	ENST00000257290.5	+	18	2848	c.2517G>T	c.(2515-2517)ctG>ctT	p.L839L	FIP1L1_ENST00000507166.1_Silent_p.L599L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	839	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.L839L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACTTTGGCCTGGCCAGAGACA	0.488000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			8	96					0.000157383	0.000213354	0.278610	1	0
FFAR2	2867	broad.mit.edu	37	19	35941483	35941483	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:35941483G>T	ENST00000599180.1	+	2	947	c.867G>T	c.(865-867)caG>caT	p.Q289H	FFAR2_ENST00000246549.2_Missense_Mutation_p.Q289H|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	289						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.Q289H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GAGGGCTGCAGGTGCTGCGGA	0.577000													16	82					2.31682e-05	3.3787e-05	0.479597	1	0
HMCN1	83872	broad.mit.edu	37	1	186023012	186023012	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:186023012G>T	ENST00000271588.4	+	44	6985	c.6756G>T	c.(6754-6756)agG>agT	p.R2252S	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2252S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2252	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R2252S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGGGGCAGGCAATTACAAA	0.433000													6	44					0.0215528	0.0235957	0.217242	1	0
GMDS	2762	broad.mit.edu	37	6	1742766	1742766	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:1742766C>A	ENST00000380815.4	-	8	1095	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W	GMDS_ENST00000530927.1_Missense_Mutation_p.G246W	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	276					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	p.G276W(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGGACCTCCCCAGTAGCTATA	0.448000													7	36					8.12818e-05	0.000111763	0.248553	1	0
TAF1L	138474	broad.mit.edu	37	9	32633178	32633178	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:32633178C>A	ENST00000242310.4	-	1	2489	c.2400G>T	c.(2398-2400)gtG>gtT	p.V800V		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	800					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	p.V801F(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCTGGCCAACCACAAAAATAT	0.423000													8	74					4.66903e-05	6.61684e-05	0.750413	1	0
ATP6V1C1	528	broad.mit.edu	37	8	104066159	104066159	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:104066159A>T	ENST00000395862.3	+	7	680	c.521A>T	c.(520-522)gAc>gTc	p.D174V	ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.D174V|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.D99V|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.D99V	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	174					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	p.D174V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AAGAAGGATGACTTTGTTCTT	0.323000													8	87					0	0	0.335167	0	0
N4BP1	9683	broad.mit.edu	37	16	48585318	48585318	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:48585318C>A	ENST00000262384.3	-	4	2332	c.2096G>T	c.(2095-2097)aGa>aTa	p.R699I	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	699					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		p.R746I(1)|p.R699I(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AGAAGCAATTCTTTCTCCAAA	0.483000													7	94					0.000157383	0.000213354	0.278610	1	0
RORB	6096	broad.mit.edu	37	9	77275592	77275592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:77275592G>T	ENST00000376896.2	+	5	1309	c.697G>T	c.(697-699)Gag>Tag	p.E233*	RORB_ENST00000396204.2_Nonsense_Mutation_p.E244*	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	244	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.E233*(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CACCATGGAAGAGCTGCACCA	0.398000													7	84					0.00198382	0.00240179	0.248553	1	0
HPX	3263	broad.mit.edu	37	11	6461961	6461961	+	Splice_Site	SNP	C	C	G	rs113971031		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:6461961C>G	ENST00000265983.3	-	2	184		c.e2-1		HPX_ENST00000525057.1_Splice_Site	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin						cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	p.?(1)		endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGCACTAGTCCTAGGGAGAAC	0.517000													4	44					0	0	0.150653	0	0
MSC	9242	broad.mit.edu	37	8	72754953	72754953	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:72754953C>A	ENST00000325509.4	-	2	853	c.564G>T	c.(562-564)ccG>ccT	p.P188P	RP11-383H13.1_ENST00000521467.1_Intron|MSC_ENST00000518440.1_5'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	188					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P188P(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGTCAGAGTCCGGTCTTCCCG	0.463000													25	274					3.65163e-15	7.23436e-15	0.706142	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063273	48063273	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:48063273A>G	ENST00000316364.5	+	19	2952	c.2513A>G	c.(2512-2514)aAc>aGc	p.N838S	SEMA6D_ENST00000558014.1_Missense_Mutation_p.N776S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.N763S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.N776S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.N819S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.N838S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.N782S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.N776S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.N795S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	838					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.N776S(1)|p.N838S(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CATGACTACAACACGTCTTTC	0.463000													7	47					0	0	0.248553	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329568	88329568	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:88329568G>C	ENST00000325089.6	+	2	2144	c.1925G>C	c.(1924-1926)cGg>cCg	p.R642P	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R401P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	642						integral to membrane		p.R642P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCTGCGGTCCGGTTGAATAGC	0.622000													5	51					0	0	0.248553	0	0
ATP6V1A	523	broad.mit.edu	37	3	113513802	113513802	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:113513802C>A	ENST00000273398.3	+	9	1180	c.1072C>A	c.(1072-1074)Ctt>Att	p.L358I	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L325I	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	358					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.L358I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTGAGGCCCTTAGAGAAAT	0.453000													13	86					1.36491e-13	2.68107e-13	0.435327	1	0
CD2AP	23607	broad.mit.edu	37	6	47544814	47544814	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:47544814G>C	ENST00000359314.5	+	8	1334	c.878G>C	c.(877-879)gGg>gCg	p.G293A		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	293	SH3 3.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	p.G293A(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTAAAGAGGGGGAGATAATC	0.284000													4	107					0	0	0.248553	0	0
SPEF2	79925	broad.mit.edu	37	5	35644577	35644577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:35644577G>T	ENST00000440995.2	+	4	535	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	SPEF2_ENST00000282469.6_Nonsense_Mutation_p.E179*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.E179*|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.E179*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	179					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.E179*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGAAACTTGAAAGATTTCA	0.308000													3	18					6.4e-05	8.96198e-05	0.115264	1	0
SEMA6B	10501	broad.mit.edu	37	19	4550174	4550174	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:4550174G>T	ENST00000586582.1	-	12	1542	c.1232C>A	c.(1231-1233)tCg>tAg	p.S411*	SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.S411*|SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.S411*	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	411	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.S411*(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGCCCAGCGAGGGCACCGC	0.647000													10	29					1.58986e-06	2.51547e-06	0.361761	1	0
PLXNB1	5364	broad.mit.edu	37	3	48465380	48465380	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:48465380T>A	ENST00000358536.4	-	3	910	c.641A>T	c.(640-642)tAc>tTc	p.Y214F	PLXNB1_ENST00000456774.1_Missense_Mutation_p.Y214F|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.Y214F|PLXNB1_ENST00000296440.6_Missense_Mutation_p.Y214F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	214	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.Y214F(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGGTGGCTGTACTCGGAGAG	0.632000													4	18					0	0	0.150653	0	0
ADCK1	57143	broad.mit.edu	37	14	78399723	78399723	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:78399723G>C	ENST00000238561.5	+	11	1660	c.1561G>C	c.(1561-1563)Gct>Cct	p.A521P	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.A453P	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	528						extracellular region	ATP binding|protein serine/threonine kinase activity	p.A453P(1)|p.A521P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GCTGTTCCCTGCTCCACTCTG	0.552000													4	69					0	0	0.184627	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508290	106508290	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:106508290A>T	ENST00000359195.3	+	2	594	c.284A>T	c.(283-285)cAc>cTc	p.H95L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.H95L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.H95L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	95					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.H95L(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGACCGCATCACTTCCTCCTG	0.632000													8	32					0	0	0.307466	0	0
NCAM2	4685	broad.mit.edu	37	21	22841100	22841100	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:22841100G>A	ENST00000400546.1	+	14	2141	c.1892G>A	c.(1891-1893)aGa>aAa	p.R631K	NCAM2_ENST00000284894.7_Missense_Mutation_p.R489K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	631	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.R631K(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTGAAATATAGAAGTGTAAGT	0.363000													3	30					0	0	0.115264	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	9					0	0	0.150653	0	0
MBL2	4153	broad.mit.edu	37	10	54527923	54527923	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:54527923G>A	ENST00000373968.3	-	4	785	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	241	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	p.L241L(1)		breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CAGACGGCCAGATGGGAGGTG	0.493000													27	190					0	0	0.667858	0	0
ASTN1	460	broad.mit.edu	37	1	177030247	177030247	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:177030247T>C	ENST00000367654.2	-	2	451	c.438A>G	c.(436-438)gaA>gaG	p.E146E	ASTN1_ENST00000361833.2_Silent_p.E146E|ASTN1_ENST00000367657.3_Silent_p.E146E|ASTN1_ENST00000424564.2_Silent_p.E146E|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	146					cell migration|neuron cell-cell adhesion	integral to membrane		p.E146E(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCAGCTCCTCTTCTGCCGACT	0.498000													18	78					0	0	0.557998	0	0
LPPR5	163404	broad.mit.edu	37	1	99418657	99418657	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:99418657G>T	ENST00000370188.3	-	3	950	c.590C>A	c.(589-591)gCt>gAt	p.A197D	LPPR5_ENST00000263177.4_Missense_Mutation_p.A197D	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		197						integral to membrane	hydrolase activity	p.A197D(1)									GACACTGAGAGCTGCTTCTTT	0.393000													16	32					6.31663e-08	1.08567e-07	0.479597	1	0
TTLL2	83887	broad.mit.edu	37	6	167753613	167753613	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:167753613G>A	ENST00000239587.5	+	3	313	c.225G>A	c.(223-225)gcG>gcA	p.A75A		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	75					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.A75A(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATTTGATGGCGGAAGATGAAC	0.507000													11	53					0	0	0.387290	0	0
ZNF227	7770	broad.mit.edu	37	19	44739160	44739160	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:44739160A>C	ENST00000313040.7	+	6	782	c.577A>C	c.(577-579)Aag>Cag	p.K193Q	ZNF227_ENST00000589005.1_Missense_Mutation_p.K142Q|ZNF227_ENST00000391961.2_Missense_Mutation_p.K142Q	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K193Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GAGTAGAGGTAAGCAAATTGA	0.358000													7	31					0	0	0.248553	0	0
OR5T3	390154	broad.mit.edu	37	11	56020511	56020511	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:56020511C>A	ENST00000303059.3	+	1	836	c.836C>A	c.(835-837)aCa>aAa	p.T279K		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T279K(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ACTGGAGTGACAATTTATCAT	0.393000													15	97					2.31682e-05	3.3787e-05	0.479597	1	0
DMRT1	1761	broad.mit.edu	37	9	847037	847037	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:847037G>C	ENST00000382276.3	+	2	581	c.432G>C	c.(430-432)gaG>gaC	p.E144D	DMRT1_ENST00000569227.1_5'UTR	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	144					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.E144D(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GTGCGGCCGAGCTGCTTGTCA	0.612000													5	57					0	0	0.184627	0	0
PLCZ1	89869	broad.mit.edu	37	12	18865880	18865880	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:18865880A>T	ENST00000447925.2	-	6	873	c.604T>A	c.(604-606)Tgg>Agg	p.W202R	PLCZ1_ENST00000541695.1_Missense_Mutation_p.W67R|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_5'UTR|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000266505.7_Missense_Mutation_p.W204R	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	204	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.W204R(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GCTCCATCCCAGCAGTCAATC	0.373000													5	41					0	0	0.184627	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744467	140744467	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140744467G>T	ENST00000518069.1	+	1	570	c.570G>T	c.(568-570)aaG>aaT	p.K190N	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.K190N(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGACAAAAGTATCCGGAGC	0.562000													6	31					3.59834e-05	5.15003e-05	0.217242	1	0
NDUFS1	4719	broad.mit.edu	37	2	206991267	206991267	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:206991267C>A	ENST00000233190.5	-	18	2354	c.2088G>T	c.(2086-2088)atG>atT	p.M696I	NDUFS1_ENST00000440274.1_Missense_Mutation_p.M660I|NDUFS1_ENST00000432169.1_Missense_Mutation_p.M585I|NDUFS1_ENST00000423725.1_Missense_Mutation_p.M639I|NDUFS1_ENST00000457011.1_Missense_Mutation_p.M580I|NDUFS1_ENST00000455934.2_Missense_Mutation_p.M710I|NDUFS1_ENST00000449699.1_Missense_Mutation_p.M696I	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	696					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.M696I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ACATACCTGTCATGTAGAAGT	0.368000													3	22					6.4e-05	8.96198e-05	0.115264	1	0
ALDH1A2	8854	broad.mit.edu	37	15	58285171	58285171	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:58285171G>T	ENST00000249750.4	-	6	1423	c.656C>A	c.(655-657)gCa>gAa	p.A219E	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.A219E|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.A198E|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.A190E|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.A123E	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	219					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.A219E(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CATGTAGAGTGCACTGAGTGG	0.493000													8	65					0.0381472	0.0411392	0.278610	1	0
FAT4	79633	broad.mit.edu	37	4	126242248	126242248	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:126242248G>A	ENST00000394329.3	+	1	4695	c.4682G>A	c.(4681-4683)gGa>gAa	p.G1561E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1561	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G1561E(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTGCTAATGGAGAAATAGAG	0.463000													10	100					0	0	0.335167	0	0
UROC1	131669	broad.mit.edu	37	3	126220152	126220152	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:126220152C>A	ENST00000383579.3	-	11	1087	c.1054G>T	c.(1054-1056)Gca>Tca	p.A352S	UROC1_ENST00000290868.2_Intron	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	0					histidine catabolic process	cytosol	urocanate hydratase activity	p.A352S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AGAACAGGTGCCCCCTGCACC	0.587000													13	58					5.50884e-06	8.41628e-06	0.411799	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153309769	153309769	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:153309769C>A	ENST00000368739.3	-	8	1177	c.819G>T	c.(817-819)ctG>ctT	p.L273L	PGLYRP4_ENST00000359650.5_Silent_p.L277L			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	277					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	p.L277L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGGCCCACCAGGAAGCTAG	0.488000													3	26					0.115264	0.121914	0.115264	1	0
KIAA1429	25962	broad.mit.edu	37	8	95539140	95539140	+	Silent	SNP	C	C	A	rs150793271		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:95539140C>A	ENST00000297591.5	-	8	1407	c.1332G>T	c.(1330-1332)gcG>gcT	p.A444A	KIAA1429_ENST00000437199.1_Silent_p.A444A|KIAA1429_ENST00000421249.2_Silent_p.A444A	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	444					mRNA processing|RNA splicing	nucleus		p.A444A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTGGCGAAGCGCTACTTGTA	0.438000													5	100					0.014758	0.0164057	0.184627	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072912	17072912	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:17072912T>A	ENST00000359963.3	-	1	788	c.529A>T	c.(529-531)Atg>Ttg	p.M177L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	177					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.M177L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAGTGGTCCATGGGGGACAGG	0.622000													13	45					0	0	0.457914	0	0
ZNF543	125919	broad.mit.edu	37	19	57839241	57839241	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:57839241A>T	ENST00000321545.4	+	4	756	c.411A>T	c.(409-411)atA>atT	p.I137I		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I137I(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACTTGAAAATAGGGATAGGCC	0.478000													6	39					0	0	0.278610	0	0
FAM161A	84140	broad.mit.edu	37	2	62054330	62054330	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:62054330C>A	ENST00000404929.1	-	6	1926	c.1915G>T	c.(1915-1917)Gat>Tat	p.D639Y	FAM161A_ENST00000405894.3_Missense_Mutation_p.D583Y	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	583	Glu-rich.				response to stimulus|visual perception	centrosome		p.D639Y(1)|p.D583Y(1)|p.D474Y(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACAAACTCATCAGATATTCCT	0.348000													28	78					3.96558e-24	8.14991e-24	0.681144	1	0
TLR8	51311	broad.mit.edu	37	X	12940186	12940186	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:12940186G>A	ENST00000218032.6	+	2	3114	c.3027G>A	c.(3025-3027)aaG>aaA	p.K1009K	TLR8_ENST00000311912.5_Silent_p.K1027K	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	1009	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.K1027K(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACAACCCGAAGGCAGAAGGCT	0.443000													9	44					0	0	0.307466	0	0
STON2	85439	broad.mit.edu	37	14	81744278	81744278	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:81744278C>A	ENST00000555447.1	-	6	1789	c.1377G>T	c.(1375-1377)ctG>ctT	p.L459L	STON2_ENST00000267540.2_Silent_p.L459L	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	459	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	p.L459L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AATACAGCTGCAGGTAACCAG	0.483000													15	182					5.3912e-06	8.26938e-06	0.539581	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	163417	163417	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:163417A>G	ENST00000283426.6	+	11	2212	c.2162A>G	c.(2161-2163)aAg>aGg	p.K721R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	721					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K721R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CATCCCCAGAAGAAAATGATA	0.607000													13	89					0	0	0.411799	0	0
TNN	63923	broad.mit.edu	37	1	175049508	175049508	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:175049508C>A	ENST00000239462.4	+	4	1107	c.994C>A	c.(994-996)Cgt>Agt	p.R332S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	332	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.R332S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGTCACCCTGCGTAACGTCAA	0.552000													8	44					5.18039e-06	7.95659e-06	0.278610	1	0
S1PR5	53637	broad.mit.edu	37	19	10624666	10624666	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:10624666G>C	ENST00000439028.3	-	2	1147	c.1022C>G	c.(1021-1023)gCg>gGg	p.A341G	S1PR5_ENST00000333430.4_Missense_Mutation_p.A341G	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	341						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.A341G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						AGCCTCAGCCGCGCTCGCCGA	0.746000													5	3					0	0	0.184627	0	0
SORCS3	22986	broad.mit.edu	37	10	106907445	106907445	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:106907445C>A	ENST00000369701.3	+	9	1600	c.1373C>A	c.(1372-1374)aCg>aAg	p.T458K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	458						integral to membrane	neuropeptide receptor activity	p.T458K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGAACGACACGTACAACCTC	0.468000													3	32					0.00024832	0.000328157	0.150653	1	0
NYNRIN	57523	broad.mit.edu	37	14	24883947	24883947	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:24883947G>A	ENST00000382554.3	+	9	3310	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	998					DNA integration	integral to membrane	DNA binding	p.E998K(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGAAGGAGGAGAGGCAGGA	0.597000													3	22					0	0	0.115264	0	0
KCNK15	60598	broad.mit.edu	37	20	43379220	43379220	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:43379220G>T	ENST00000372861.3	+	2	865	c.734G>T	c.(733-735)cGc>cTc	p.R245L		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	245						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R245L(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GTGGTCCTGCGCTTCCTCGTT	0.726000													5	48					8.12818e-05	0.000111763	0.248553	1	0
SIGLEC5	8778	broad.mit.edu	37	19	52132675	52132675	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:52132675G>T	ENST00000222107.4	-	3	774	c.636C>A	c.(634-636)acC>acA	p.T212T	SIGLEC5_ENST00000534261.2_Silent_p.T212T|SIGLEC5_ENST00000570106.2_Silent_p.T212T|SIGLEC5_ENST00000429354.3_Silent_p.T212T|SIGLEC5_ENST00000599649.1_Silent_p.T212T			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	212	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding	p.T212T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCATCTGACAGGTGAGGTTGG	0.637000													8	51					0.00448238	0.00532629	0.307466	1	0
DLEC1	9940	broad.mit.edu	37	3	38126765	38126765	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:38126765G>T	ENST00000308059.6	+	8	1283	c.1261_splice	c.e8-1	p.G421_splice	DLEC1_ENST00000469151.1_Intron|DLEC1_ENST00000452631.2_Splice_Site_p.G421_splice|DLEC1_ENST00000346219.3_Splice_Site_p.G421_splice			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	421					negative regulation of cell proliferation	cytoplasm		p.G421V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCATGCACAGGGATGTTCCCA	0.537000													4	70					0.184627	0.190397	0.184627	1	0
TREML1	340205	broad.mit.edu	37	6	41117386	41117386	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:41117386C>A	ENST00000426005.2	-	6	935	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W	TREML1_ENST00000437044.2_Missense_Mutation_p.G187W|TREML1_ENST00000373127.4_3'UTR	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	298					calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	p.G298W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGCTGGCCCACACGAGGTC	0.542000													5	61					3.59834e-05	5.15003e-05	0.217242	1	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370053	20370053	+	RNA	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:20370053T>C	ENST00000593655.1	-	0	199																											CGGAAAAACTTCCTAAATTTA	0.418000													3	31					0	0	0.115264	0	0
CDCP1	64866	broad.mit.edu	37	3	45153697	45153697	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:45153697C>A	ENST00000296129.1	-	3	667	c.533G>T	c.(532-534)tGc>tTc	p.C178F	CDCP1_ENST00000425231.2_Missense_Mutation_p.C178F	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	178						extracellular region|integral to membrane|plasma membrane		p.C178F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCCATTGCTGCAGAAGGTTCC	0.577000													4	83					0.00024832	0.000328157	0.150653	1	0
ADORA1	134	broad.mit.edu	37	1	203134389	203134389	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:203134389G>T	ENST00000367236.4	+	3	1263	c.341_splice	c.e3-1	p.R114_splice	ADORA1_ENST00000309502.3_Splice_Site_p.R114_splice|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Splice_Site_p.R114_splice	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	114					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		p.R114R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCTCCCCCAGGTACAAGATGG	0.652000													7	23					1.06961e-07	1.8141e-07	0.278610	1	0
GPR128	84873	broad.mit.edu	37	3	100362478	100362478	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:100362478G>T	ENST00000273352.3	+	8	1214		c.e8+1		GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATGACGAAAAGTAAGTCTCAA	0.333000													6	23					0.00116845	0.00143417	0.217242	1	0
MPP4	58538	broad.mit.edu	37	2	202550695	202550695	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:202550695C>A	ENST00000409474.3	-	6	646	c.439G>T	c.(439-441)Gag>Tag	p.E147*	MPP4_ENST00000396886.3_Intron|MPP4_ENST00000409143.1_Nonsense_Mutation_p.E120*|MPP4_ENST00000315506.7_Nonsense_Mutation_p.E147*|MPP4_ENST00000447335.2_Nonsense_Mutation_p.E147*|MPP4_ENST00000359962.5_Nonsense_Mutation_p.E147*|MPP4_ENST00000428900.2_Nonsense_Mutation_p.E147*	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	147						cytoplasm	protein binding	p.E147*(2)		kidney(1)|lung(11)	12						TCCTCACTCTCAGGGATATTG	0.453000													16	63					4.7546e-09	8.55384e-09	0.500413	1	0
SCN4A	6329	broad.mit.edu	37	17	62022924	62022924	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:62022924C>A	ENST00000578147.1	-	19	3592	c.3516G>T	c.(3514-3516)ctG>ctT	p.L1172L	SCN4A_ENST00000435607.1_Silent_p.L1172L			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1172					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1172L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGCTGAAGATCAGCCAGAAGA	0.562000													27	162					3.73988e-18	7.53851e-18	0.706142	1	0
CPXM2	119587	broad.mit.edu	37	10	125506513	125506513	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:125506513G>T	ENST00000241305.3	-	14	2192	c.2038C>A	c.(2038-2040)Cgc>Agc	p.R680S	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	680					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R680S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTCAGGAGGCGCCAGTAATCC	0.547000													9	153					0.00010058	0.000137969	0.411799	1	0
BARD1	580	broad.mit.edu	37	2	215645838	215645838	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:215645838T>A	ENST00000260947.4	-	4	894	c.760A>T	c.(760-762)Ata>Tta	p.I254L	BARD1_ENST00000449967.2_Missense_Mutation_p.I110L|BARD1_ENST00000471787.1_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	254					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.I254L(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCACCATTTATCTGAGGACTG	0.398000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				17	57					0	0	0.500413	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794251	21794251	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:21794251G>T	ENST00000206660.6	+	16	2629	c.2629G>T	c.(2629-2631)Gat>Tat	p.D877Y	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D839Y|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D877Y|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D236Y			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	877	C2.				response to stimulus|visual perception	cilium		p.D493Y(1)|p.D877Y(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGTTTTTGATGATGAAGACTT	0.483000													10	22					0.000673444	0.000844547	0.361761	1	0
DRD2	1813	broad.mit.edu	37	11	113285099	113285099	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:113285099C>G	ENST00000362072.3	-	6	1152	c.808G>C	c.(808-810)Gtg>Ctg	p.V270L	DRD2_ENST00000538967.1_Missense_Mutation_p.V270L|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.V270L|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000544518.1_Missense_Mutation_p.V269L|DRD2_ENST00000542968.1_Missense_Mutation_p.V270L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	270	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.V270L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GCACTTACCACTCTCCGCCTG	0.567000													11	134					0	0	0.387290	0	0
STIL	6491	broad.mit.edu	37	1	47717476	47717476	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:47717476C>A	ENST00000360380.3	-	18	3559	c.3196G>T	c.(3196-3198)Gct>Tct	p.A1066S	STIL_ENST00000396221.2_Missense_Mutation_p.A1049S|STIL_ENST00000371877.3_Missense_Mutation_p.A1067S|STIL_ENST00000337817.5_Missense_Mutation_p.A1066S|STIL_ENST00000243182.6_Missense_Mutation_p.A1066S			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1066					cell proliferation|multicellular organismal development	centrosome|cytosol		p.A1066S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AGAGCTATAGCATTTGCCTCC	0.418000													4	109					0.00024832	0.000328157	0.150653	1	0
C1orf94	84970	broad.mit.edu	37	1	34663443	34663443	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:34663443A>C	ENST00000488417.1	+	2	1058	c.938A>C	c.(937-939)cAg>cCg	p.Q313P	C1orf94_ENST00000373374.3_Missense_Mutation_p.Q123P	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	123							protein binding	p.Q123P(1)|p.Q313P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CAGAAGAGGCAGCTCCCAGTG	0.612000													4	45					0	0	0.184627	0	0
USP6NL	9712	broad.mit.edu	37	10	11504534	11504534	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:11504534C>T	ENST00000379237.1	-	15	2787	c.2393G>A	c.(2392-2394)aGt>aAt	p.S798N	USP6NL_ENST00000277575.5_Missense_Mutation_p.S815N	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	798						intracellular	Rab GTPase activator activity	p.S815N(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCAGATGGACTGGCATCTTC	0.537000													10	66					0	0	0.361761	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529463	80529463	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:80529463C>A	ENST00000295057.3	-	2	2138	c.1482G>T	c.(1480-1482)ccG>ccT	p.P494P	LRRTM1_ENST00000409148.1_Silent_p.P494P|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	494						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.P494P(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CAATGTGGTTCGGTTTGTAAT	0.547000										HNSCC(69;0.2)			10	30					3.86212e-05	5.48003e-05	0.361761	1	0
PROS1	5627	broad.mit.edu	37	3	93611874	93611874	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:93611874G>T	ENST00000394236.3	-	10	1374	c.1058C>A	c.(1057-1059)gCa>gAa	p.A353E	PROS1_ENST00000407433.1_Missense_Mutation_p.A222E	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	353	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.A353E(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ACCACGAAGTGCAATCAGGAG	0.388000													8	51					3.09899e-07	5.07706e-07	0.307466	1	0
IL2RB	3560	broad.mit.edu	37	22	37524495	37524495	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:37524495T>G	ENST00000216223.5	-	10	1495	c.1297A>C	c.(1297-1299)Agt>Cgt	p.S433R		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	433					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	p.S433R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCGAGGAGACTGGGGGAGAAG	0.657000													3	10					0	0	0.115264	0	0
ACSS1	84532	broad.mit.edu	37	20	24988421	24988421	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:24988421C>A	ENST00000537502.1	-	12	3329	c.1798G>T	c.(1798-1800)Gac>Tac	p.D600Y	ACSS1_ENST00000484396.1_5'UTR|ACSS1_ENST00000542618.1_Missense_Mutation_p.D562Y|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000323482.4_Missense_Mutation_p.D683Y			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	683					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	p.D683Y(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCTGCTTGTCCTTGCACTTC	0.592000													8	84					0.0381472	0.0411392	0.278610	1	0
LRP1B	53353	broad.mit.edu	37	2	141122263	141122263	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:141122263C>A	ENST00000389484.3	-	72	12069	c.11098G>T	c.(11098-11100)Gga>Tga	p.G3700*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3700	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3700*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGTTGTCTCCACAGTCGTCC	0.408000										TSP Lung(27;0.18)			6	47					0.0215528	0.0235957	0.217242	1	0
PREX1	57580	broad.mit.edu	37	20	47265982	47265982	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:47265982C>A	ENST00000396220.1	-	25	3183	c.3161G>T	c.(3160-3162)aGt>aTt	p.S1054I	PREX1_ENST00000371941.3_Missense_Mutation_p.S1054I			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1054					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.S1054I(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AAGGGTCCCACTGGCTGGCCC	0.612000													7	46					0.307466	0.312608	0.307466	1	0
ZNF702P	79986	broad.mit.edu	37	19	53473326	53473326	+	RNA	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:53473326T>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTGCAAGATATGCTTTTTGAT	0.363000													10	43					0	0	0.361761	0	0
SELP	6403	broad.mit.edu	37	1	169581475	169581475	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:169581475G>T	ENST00000263686.6	-	6	978	c.941C>A	c.(940-942)gCc>gAc	p.A314D	SELP_ENST00000367792.2_Missense_Mutation_p.A314D|SELP_ENST00000367793.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.A314D|SELP_ENST00000367791.2_Missense_Mutation_p.A314D|SELP_ENST00000367788.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.A314D|SELP_ENST00000367794.2_Missense_Mutation_p.A314D	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	314	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.A314D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGGGGCTGGGGCTGTCCATAC	0.493000													9	49					6.40141e-05	8.96198e-05	0.387290	1	0
PALB2	79728	broad.mit.edu	37	16	23646849	23646849	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:23646849T>G	ENST00000261584.4	-	4	1170	c.1018A>C	c.(1018-1020)Aat>Cat	p.N340H		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	340					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.N340H(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGGTTTTCATTTGCTGGTAAG	0.338000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					12	97					0	0	0.387290	0	0
OR5B12	390191	broad.mit.edu	37	11	58207590	58207590	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:58207590A>T	ENST00000302572.2	-	1	56	c.35T>A	c.(34-36)cTt>cAt	p.L12H		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L12H(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAACCCCACAAGGATGAATTC	0.448000													3	29					0	0	0.115264	0	0
KDM4C	23081	broad.mit.edu	37	9	6984176	6984176	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:6984176G>T	ENST00000381309.3	+	10	1691	c.1126G>T	c.(1126-1128)Gct>Tct	p.A376S	KDM4C_ENST00000543771.1_Missense_Mutation_p.A376S|KDM4C_ENST00000381306.3_Missense_Mutation_p.A376S|KDM4C_ENST00000428870.2_Missense_Mutation_p.A63S|KDM4C_ENST00000536108.1_Missense_Mutation_p.A195S|KDM4C_ENST00000535193.1_Missense_Mutation_p.A398S|KDM4C_ENST00000442236.2_Missense_Mutation_p.A195S	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	376					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.A376S(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTTCCAGTGTGCTAGGTCTAC	0.468000													6	67					0.0215528	0.0235957	0.217242	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766734	77766734	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:77766734C>G	ENST00000521891.2	+	10	8025	c.7577C>G	c.(7576-7578)tCt>tGt	p.S2526C	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2481C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2500C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2481C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2481						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S2510C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCCTTCACTCTCCGTTCTTG	0.498000										HNSCC(33;0.089)			6	105					0	0	0.217242	0	0
ZNF622	90441	broad.mit.edu	37	5	16458721	16458721	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:16458721T>A	ENST00000308683.2	-	4	1193	c.1067A>T	c.(1066-1068)cAc>cTc	p.H356L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	356						cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.H356L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCCTTCCTTGTGATCTGGATA	0.383000													3	43					0	0	0.150653	0	0
CA3	761	broad.mit.edu	37	8	86354332	86354332	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:86354332A>T	ENST00000285381.2	+	3	346	c.263A>T	c.(262-264)tAc>tTc	p.Y88F	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	88					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	p.Y88F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCTGGACCCTACCGACTTCGC	0.502000													12	52					0	0	0.387290	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103459781	103459781	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:103459781G>T	ENST00000602836.1	+	1	78	c.78G>T	c.(76-78)atG>atT	p.M26I	BIVM_ENST00000419638.1_Missense_Mutation_p.W55L|BIVM_ENST00000257336.1_Missense_Mutation_p.W55L|BIVM_ENST00000448849.2_Intron	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	p.W55L(1)									CATTATCCATGGAGTTGTCCA	0.448000													4	36					0.00909568	0.0104325	0.150653	1	0
DPT	1805	broad.mit.edu	37	1	168670289	168670289	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:168670289G>T	ENST00000367817.3	-	3	594	c.505C>A	c.(505-507)Cga>Aga	p.R169R		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	169	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix		p.R169R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GTTGCTCCTCGGATATAGTAA	0.453000													5	110					0.217242	0.22264	0.217242	1	0
PPP1CA	5499	broad.mit.edu	37	11	67168700	67168700	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:67168700G>T	ENST00000312989.7	-	2	69	c.59C>A	c.(58-60)tCc>tAc	p.S20Y	PPP1CA_ENST00000358239.4_Intron|PPP1CA_ENST00000532446.1_Intron|PPP1CA_ENST00000376745.4_Intron			P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	18					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	p.S20Y(1)		breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CAGGACCCTGGACCCTGACAG	0.667000													4	55					0.000602214	0.000761004	0.184627	1	0
FBXO21	23014	broad.mit.edu	37	12	117604703	117604703	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:117604703C>A	ENST00000427718.2	-	8	1267	c.1193_splice	c.e8+1	p.R398_splice	FBXO21_ENST00000330622.5_Splice_Site_p.R398_splice	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	398					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.R398L(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AAAACCTTACCGCTTCCCCAG	0.458000													9	55					0.00448238	0.00532629	0.307466	1	0
PEG3	5178	broad.mit.edu	37	19	57325840	57325840	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:57325840G>T	ENST00000326441.9	-	10	4333	c.3970C>A	c.(3970-3972)Ccc>Acc	p.P1324T	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.P1324T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.P1200T|PEG3_ENST00000593695.1_Missense_Mutation_p.P1198T|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1324					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1324T(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTTGAGGGGCTCAGTAAGA	0.433000													7	36					0.27861	0.28402	0.278610	1	0
CPS1	1373	broad.mit.edu	37	2	211438024	211438024	+	Silent	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:211438024A>C	ENST00000233072.5	+	2	325	c.129A>C	c.(127-129)gcA>gcC	p.A43A	CPS1_ENST00000430249.2_Silent_p.A49A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	43	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.A43A(1)|p.A49A(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTCTTCAGGCACAGACAGCAC	0.383000													7	97					0	0	0.307466	0	0
TAF5L	27097	broad.mit.edu	37	1	229730202	229730202	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:229730202C>T	ENST00000258281.2	-	5	1777	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N	TAF5L_ENST00000366676.1_Missense_Mutation_p.D538N	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	538					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.D538N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TTCCTGATGTCCCAGACGCGC	0.592000													6	27					0	0	0.248553	0	0
SLC4A3	6508	broad.mit.edu	37	2	220505177	220505177	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:220505177G>C	ENST00000358055.3	+	21	3815	c.3303G>C	c.(3301-3303)gtG>gtC	p.V1101V	SLC4A3_ENST00000373760.2_Silent_p.V1101V|SLC4A3_ENST00000373762.3_Silent_p.V1128V|SLC4A3_ENST00000317151.3_Silent_p.V1101V|SLC4A3_ENST00000273063.6_Silent_p.V1128V			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1101	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.V1128V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGGGCTGTGCTGCGTCGGA	0.607000													6	72					0	0	0.248553	0	0
ASB18	401036	broad.mit.edu	37	2	237172946	237172946	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:237172946C>G	ENST00000409749.3	-	1	42	c.43G>C	c.(43-45)Gat>Cat	p.D15H	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	15					intracellular signal transduction			p.D15H(1)		large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		TTCACTAAATCTGAGTTGAGT	0.468000													5	53					0	0	0.248553	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449967	85449967	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:85449967A>T	ENST00000393217.2	+	8	1457	c.1396A>T	c.(1396-1398)Aaa>Taa	p.K466*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	466								p.K466*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGTAAAGTTAAAAGAATCTAT	0.308000													4	29					0	0	0.184627	0	0
APC	324	broad.mit.edu	37	5	112111325	112111325	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:112111325G>T	ENST00000457016.1	+	5	802		c.e5-1		APC_ENST00000508376.2_Splice_Site|APC_ENST00000257430.4_Splice_Site			P25054	APC_HUMAN	adenomatous polyposis coli						canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(3)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		aaaaaaaataGGTCATTGCTT	0.313000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			7	32					1.26484e-09	2.2934e-09	0.278610	1	0
SLC8A1	6546	broad.mit.edu	37	2	40655842	40655842	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:40655842C>A	ENST00000406785.1	-	2	1768	c.1579G>T	c.(1579-1581)Gcc>Tcc	p.A527S	SLC8A1_ENST00000542756.1_Missense_Mutation_p.A527S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A527S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A527S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A527S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A527S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A527S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.A527S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A527S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A527S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	527	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.A527S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTTACAGTGGCAGTGGAGGGA	0.448000													6	54					5.9392e-07	9.621e-07	0.217242	1	0
TUBGCP6	85378	broad.mit.edu	37	22	50659383	50659383	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:50659383C>A	ENST00000439308.2	-	16	3897	c.3405G>T	c.(3403-3405)ggG>ggT	p.G1135G	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.G1135G	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1135	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.G1135G(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGACACGTGCCCGTGGGTAT	0.627000													23	121					2.89027e-11	5.48154e-11	0.624587	1	0
NRP2	8828	broad.mit.edu	37	2	206640996	206640996	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:206640996C>A	ENST00000357118.4	+	16	2483	c.2452C>A	c.(2452-2454)Ccc>Acc	p.P818T	NRP2_ENST00000272849.3_Missense_Mutation_p.P823T|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540841.1_Intron	NM_201267.1	NP_957719.1	O60462	NRP2_HUMAN	neuropilin 2	0					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.P823T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGGGACCGAGCCCACAGTGGA	0.592000											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	85					1.55811e-20	3.16834e-20	0.729181	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766690	77766690	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:77766690C>A	ENST00000521891.2	+	10	7981	c.7533C>A	c.(7531-7533)caC>caA	p.H2511Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2466Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2485Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2466Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2466						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H2495Q(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGCAGGAACACCAGCACATGC	0.483000										HNSCC(33;0.089)			7	110					0.000157383	0.000213354	0.278610	1	0
MYRF	745	broad.mit.edu	37	11	61539345	61539345	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:61539345C>A	ENST00000278836.5	+	7	1132	c.1036C>A	c.(1036-1038)Ccc>Acc	p.P346T	MYRF_ENST00000265460.5_Missense_Mutation_p.P337T|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor									p.P337T(1)									CTACCTGGACCCCAACTACCA	0.602000													16	68					3.32936e-07	5.43905e-07	0.539581	1	0
MAGEC3	139081	broad.mit.edu	37	X	140983191	140983191	+	Translation_Start_Site	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:140983191A>T	ENST00000544766.1	+	0	286				MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101L|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000298296.1_Missense_Mutation_p.Q349L	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3									p.Q349L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAATCCTCAAGGTAAGGGC	0.582000													9	36					0	0	0.387290	0	0
POM121L12	285877	broad.mit.edu	37	7	53103455	53103455	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:53103455G>T	ENST00000408890.4	+	1	107	c.91G>T	c.(91-93)Gct>Tct	p.A31S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	31								p.A31S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCCCTGGCGGCTCCCATGAG	0.687000													5	25					0.000602214	0.000761004	0.184627	1	0
TMEM132E	124842	broad.mit.edu	37	17	32959728	32959728	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:32959728C>T	ENST00000321639.5	+	7	1546	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	406						integral to membrane		p.S406S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCCAGGTATCCAGCAGCTGTG	0.567000													8	40					0	0	0.278610	0	0
OR9G1	390174	broad.mit.edu	37	11	56468180	56468180	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:56468180T>G	ENST00000312153.1	+	1	317	c.317T>G	c.(316-318)cTg>cGg	p.L106R		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TCTGCAGGGCTGGCCTATAGT	0.537000													5	74					0	0	0.184627	0	0
MROH7	374977	broad.mit.edu	37	1	55166854	55166854	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:55166854G>T	ENST00000414150.2	+	19	3422	c.3144G>T	c.(3142-3144)aaG>aaT	p.K1048N	MROH7_ENST00000421030.2_Missense_Mutation_p.K1048N|MROH7_ENST00000454855.2_Missense_Mutation_p.K566N|MROH7_ENST00000409996.1_Missense_Mutation_p.K616N					maestro heat-like repeat family member 7									p.K1048N(1)|p.K1045N(1)									CCATGGTGAAGGGCCTGAAGA	0.592000													6	33					3.59834e-05	5.15003e-05	0.217242	1	0
NLRP3	114548	broad.mit.edu	37	1	247588721	247588721	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:247588721C>A	ENST00000366497.2	+	4	2756	c.1976C>A	c.(1975-1977)aCc>aAc	p.T659N	NLRP3_ENST00000366496.2_Missense_Mutation_p.T659N|NLRP3_ENST00000391828.3_Missense_Mutation_p.T659N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.T659N|NLRP3_ENST00000348069.2_Missense_Mutation_p.T659N|NLRP3_ENST00000336119.3_Missense_Mutation_p.T659N	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	659					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.T659N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AATCTCTCCACCAGAATGGAC	0.493000													7	36					1.06961e-07	1.8141e-07	0.278610	1	0
PDE1C	5137	broad.mit.edu	37	7	32209517	32209517	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:32209517C>A	ENST00000396193.1	-	3	781	c.188G>T	c.(187-189)gGg>gTg	p.G63V		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.G63V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTTGACATTCCCTGTGAGCCC	0.522000													13	77					1.61879e-10	3.0108e-10	0.411799	1	0
OR2T10	127069	broad.mit.edu	37	1	248757048	248757048	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248757048G>T	ENST00000330500.2	-	1	52	c.22C>A	c.(22-24)Ctg>Atg	p.L8M		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L8M(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACCACCCAGGGTCTGGTTG	0.463000													5	23					0.0381472	0.0411392	0.278610	1	0
HAVCR1	26762	broad.mit.edu	37	5	156479626	156479626	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:156479626G>A	ENST00000339252.3	-	3	951	c.419C>T	c.(418-420)aCc>aTc	p.T140I	HAVCR1_ENST00000522693.1_Missense_Mutation_p.T140I|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T140I|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T140I|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T140I	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	140	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.T140I(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTCGTGACGGTTGGAACAGT	0.473000													10	164					0	0	0.387290	0	0
TTN	7273	broad.mit.edu	37	2	179616755	179616755	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:179616755C>G	ENST00000360870.5	-	46	10594	c.10372G>C	c.(10372-10374)Gag>Cag	p.E3458Q	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3463							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTCCCCCTCAGAGAATAAT	0.323000													8	98					0	0	0.307466	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611334	42611334	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:42611334T>A	ENST00000276410.2	-	5	1363	c.1008A>T	c.(1006-1008)acA>acT	p.T336T	CHRNA6_ENST00000534622.1_Silent_p.T321T	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	336						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.T336T(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACCTGGGCATTGTGTGCGTGG	0.547000													5	37					0	0	0.184627	0	0
ZNF407	55628	broad.mit.edu	37	18	72345911	72345911	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:72345911G>T	ENST00000299687.5	+	1	2936	c.2936G>T	c.(2935-2937)gGa>gTa	p.G979V	ZNF407_ENST00000582337.1_Missense_Mutation_p.G979V|ZNF407_ENST00000309902.6_Missense_Mutation_p.G979V|ZNF407_ENST00000577538.1_Missense_Mutation_p.G979V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G979L(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TCTCTAGATGGAGAAGTTAAC	0.448000													12	31					0.000978159	0.00122006	0.387290	1	0
STRN3	29966	broad.mit.edu	37	14	31388178	31388178	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:31388178C>T	ENST00000357479.5	-	9	1430	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	STRN3_ENST00000355683.5_Intron|STRN3_ENST00000366206.2_Intron	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	412					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.E412K(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GTACCTTCCTCTGCTCTTGCA	0.398000													28	94					0	0	0.729181	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825936	102825936	+	RNA	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:102825936G>C	ENST00000312132.4	-	0	3761																											ATGAAGTGTAGACAGCTTGAC	0.388000													8	19					0	0	0.335167	0	0
TFAP2D	83741	broad.mit.edu	37	6	50718983	50718983	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:50718983C>A	ENST00000008391.3	+	7	1313	c.1085C>A	c.(1084-1086)tCc>tAc	p.S362Y	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	362	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity	p.S362Y(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTGGGATCCTCCAGACCCACT	0.353000													6	23					8.12818e-05	0.000111763	0.248553	1	0
GAST	2520	broad.mit.edu	37	17	39871799	39871799	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:39871799G>T	ENST00000329402.3	+	2	178	c.111G>T	c.(109-111)ggG>ggT	p.G37G	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	37						extracellular region	hormone activity	p.G37G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TAGGTACAGGGGCCAACAGGG	0.627000													24	98					1.22574e-08	2.16804e-08	0.624587	1	0
GJA8	2703	broad.mit.edu	37	1	147380357	147380357	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:147380357A>T	ENST00000240986.4	+	2	328	c.275A>T	c.(274-276)tAc>tTc	p.Y92F	GJA8_ENST00000369235.1_Missense_Mutation_p.Y92F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	92					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.Y92F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCCCTGATGTACGTGGGGCAC	0.657000													9	55					0	0	0.335167	0	0
LYST	1130	broad.mit.edu	37	1	235969785	235969785	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:235969785T>C	ENST00000389794.3	-	6	2825	c.2651A>G	c.(2650-2652)aAg>aGg	p.K884R	LYST_ENST00000536965.1_Missense_Mutation_p.K884R|LYST_ENST00000389793.2_Missense_Mutation_p.K884R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	884					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.K884R(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTCCGTCTCTTTGGATAAGC	0.398000													18	76					0	0	0.557998	0	0
RIC3	79608	broad.mit.edu	37	11	8158923	8158923	+	Splice_Site	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:8158923A>T	ENST00000343202.4	-	4	587		c.e4+1		RIC3_ENST00000309737.6_Splice_Site|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_Splice_Site|RIC3_ENST00000539720.1_Splice_Site|RIC3_ENST00000425599.2_Intron	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone							endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.?(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATGAAAACCTACCTCTCACCA	0.453000													20	69					0	0	0.557998	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789843	6789843	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:6789843C>A	ENST00000338569.2	-	1	443	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A116S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCATGAAGGCCAGTAGGAGG	0.522000													3	52					0.115264	0.121914	0.115264	1	0
AGXT2	64902	broad.mit.edu	37	5	35014095	35014095	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:35014095G>T	ENST00000231420.6	-	10	1293	c.1093C>A	c.(1093-1095)Cca>Aca	p.P365T		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	365					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.P365T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GTCCTACCTGGAGTGGTTATG	0.502000													4	92					0.00909568	0.0104325	0.150653	1	0
TCEAL8	90843	broad.mit.edu	37	X	102508698	102508698	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:102508698C>G	ENST00000372685.3	-	3	446	c.210G>C	c.(208-210)ttG>ttC	p.L70F	TCEAL8_ENST00000360000.4_Missense_Mutation_p.L70F	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.L70F(1)		kidney(2)|lung(1)|ovary(1)	4						CTTCAGGGTCCAAATGCCTAA	0.473000													14	56					0	0	0.435327	0	0
EXPH5	23086	broad.mit.edu	37	11	108384381	108384381	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:108384381C>G	ENST00000265843.4	-	6	1963	c.1853G>C	c.(1852-1854)gGa>gCa	p.G618A	EXPH5_ENST00000525344.1_Missense_Mutation_p.G611A|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.G430A|EXPH5_ENST00000428840.1_Missense_Mutation_p.G542A	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	618					intracellular protein transport		Rab GTPase binding	p.G618A(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGAGCAATTCCAAATGAGGA	0.418000													8	87					0	0	0.278610	0	0
PDE4B	5142	broad.mit.edu	37	1	66723362	66723362	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:66723362C>T	ENST00000423207.2	+	3	949	c.464C>T	c.(463-465)gCc>gTc	p.A155V	PDE4B_ENST00000371049.3_Missense_Mutation_p.A170V|PDE4B_ENST00000329654.4_Missense_Mutation_p.A170V|PDE4B_ENST00000371048.3_3'UTR	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	170					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.A170V(1)|p.A155V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ACTCCTTTTGCCCAGGTATGT	0.388000													11	159					0	0	0.411799	0	0
LPL	4023	broad.mit.edu	37	8	19805777	19805777	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:19805777G>A	ENST00000311322.8	+	2	645	c.175G>A	c.(175-177)Gga>Aga	p.G59R	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	59					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.G59R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CCTCATTCCCGGAGTAGCAGA	0.483000													3	51					0	0	0.150653	0	0
RBP4	5950	broad.mit.edu	37	10	95360226	95360226	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:95360226G>C	ENST00000371467.1	-	4	598	c.279C>G	c.(277-279)ggC>ggG	p.G93G	RBP4_ENST00000371464.3_Silent_p.G93G|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371469.2_Silent_p.G91G			P02753	RET4_HUMAN	retinol binding protein 4, plasma	93			G -> D (in RBP deficiency).		cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding	p.G93G(1)		large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CTGTGAAGGTGCCCACCATGT	0.577000													7	36					0	0	0.278610	0	0
DUSP2	1844	broad.mit.edu	37	2	96809566	96809566	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:96809566T>C	ENST00000288943.4	-	4	1026	c.941A>G	c.(940-942)cAc>cGc	p.H314R		NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	314					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	p.H314R(1)		NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				ACCACCTCAGTGACACAGCAC	0.632000													4	12					0	0	0.150653	0	0
ITGAM	3684	broad.mit.edu	37	16	31308933	31308933	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:31308933G>T	ENST00000544665.3	+	13	1526	c.1455G>T	c.(1453-1455)caG>caT	p.Q485H	ITGAM_ENST00000287497.8_Missense_Mutation_p.Q485H	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	485					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.Q485H(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACTACGAGCAGACCCGAGGGG	0.701000													14	78					1.3612e-06	2.16555e-06	0.479597	1	0
OSBPL8	114882	broad.mit.edu	37	12	76784400	76784400	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:76784400C>A	ENST00000261183.3	-	11	1446	c.967G>T	c.(967-969)Gac>Tac	p.D323Y	OSBPL8_ENST00000393249.2_Missense_Mutation_p.D281Y|OSBPL8_ENST00000393250.4_Missense_Mutation_p.D281Y	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	323					lipid transport		lipid binding	p.D323Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATATCTTGGTCCTTAAAATGT	0.318000													4	72					0.00909568	0.0104325	0.150653	1	0
ZNF169	169841	broad.mit.edu	37	9	97062215	97062215	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:97062215A>T	ENST00000395395.2	+	5	465	c.375A>T	c.(373-375)gcA>gcT	p.A125A	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	125						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A125A(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCTCATCTGCAGGAGGTGACT	0.512000													4	31					0	0	0.184627	0	0
OR8U1	219417	broad.mit.edu	37	11	56143285	56143285	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:56143285T>A	ENST00000302270.1	+	1	186	c.186T>A	c.(184-186)ttT>ttA	p.F62L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.F62L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TGTACTTCTTTCTTAGCAACC	0.383000													11	176					0	0	0.387290	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5319161	5319161	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:5319161C>A	ENST00000274181.7	+	23	3723	c.3585C>A	c.(3583-3585)caC>caA	p.H1195Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1195	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H1195Q(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACTACTTCCACTGGTGCTACC	0.527000													4	16					2.56e-06	3.96886e-06	0.150653	1	0
PHF20L1	51105	broad.mit.edu	37	8	133807005	133807005	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:133807005G>C	ENST00000395386.2	+	4	581	c.282G>C	c.(280-282)ctG>ctC	p.L94L	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395376.1_Silent_p.L94L|PHF20L1_ENST00000395382.3_5'UTR|PHF20L1_ENST00000395390.2_Silent_p.L94L|PHF20L1_ENST00000337920.4_Silent_p.L94L|PHF20L1_ENST00000315808.10_Silent_p.L94L|PHF20L1_ENST00000395383.1_Silent_p.L94L|PHF20L1_ENST00000395379.1_Silent_p.L94L	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	94	Tudor 2.						nucleic acid binding|zinc ion binding	p.L94L(3)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAGAAGTTCTGGCTCGTTGGA	0.313000													6	33					0	0	0.248553	0	0
EPRS	2058	broad.mit.edu	37	1	220195837	220195837	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:220195837A>G	ENST00000366923.3	-	9	1236	c.967T>C	c.(967-969)Tgg>Cgg	p.W323R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	323	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	p.W323R(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	ATTTCTTCCCACATTTGTAGA	0.338000													9	95					0	0	0.387290	0	0
C2orf48	348738	broad.mit.edu	37	2	10350596	10350596	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:10350596G>T	ENST00000381786.3	+	4	642	c.353G>T	c.(352-354)gGg>gTg	p.G118V		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	118								p.G118V(1)		endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		AAGTTATCTGGGTGGGAACTC	0.587000													7	50					0.0293803	0.0318333	0.248553	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140711649	140711649	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140711649C>T	ENST00000517417.1	+	1	1398	c.1398C>T	c.(1396-1398)ccC>ccT	p.P466P	PCDHGA1_ENST00000378105.3_Silent_p.P466P	NM_018912.2	NP_061735.1												p.P466P(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACAACCCCAGAGGAGCCT	0.488000													5	71					0	0	0.217242	0	0
BASP1	10409	broad.mit.edu	37	5	17275906	17275906	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:17275906G>T	ENST00000322611.3	+	2	841	c.581G>T	c.(580-582)aGt>aTt	p.S194I		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	194					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	p.S194I(1)		endometrium(1)|lung(8)	9						GAAGCGCCTAGTTCCACACCC	0.647000													6	22					5.18039e-06	7.95659e-06	0.278610	1	0
AHNAK2	113146	broad.mit.edu	37	14	105413236	105413236	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:105413236G>C	ENST00000333244.5	-	7	8671	c.8552C>G	c.(8551-8553)tCc>tGc	p.S2851C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2851						nucleus		p.S2851C(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTGCATGGAGGGGAAGCT	0.617000													21	158					0	0	0.592651	0	0
XYLT1	64131	broad.mit.edu	37	16	17202756	17202756	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:17202756C>A	ENST00000261381.6	-	12	2760	c.2676G>T	c.(2674-2676)cgG>cgT	p.R892R		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	892			R -> Q (in dbSNP:rs35309694).		glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.R892R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGCGTTCCTCCGTGCCTGTT	0.652000													7	59					5.18039e-06	7.95659e-06	0.278610	1	0
CEP135	9662	broad.mit.edu	37	4	56837457	56837457	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:56837457G>C	ENST00000257287.4	+	10	1256	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	378					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.E378Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATGCCAGAAAGAAAAGGAGAG	0.299000													8	29					0	0	0.307466	0	0
C1QTNF4	114900	broad.mit.edu	37	11	47611633	47611633	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:47611633A>T	ENST00000302514.3	-	2	1246	c.730T>A	c.(730-732)Tcg>Acg	p.S244T		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	244	C1q 2.					extracellular region		p.S244T(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						AGCTTAACCGACAGCGTCTTA	0.667000													4	23					0	0	0.150653	0	0
ZZEF1	23140	broad.mit.edu	37	17	3954138	3954138	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:3954138T>G	ENST00000381638.2	-	36	5924	c.5800A>C	c.(5800-5802)Acc>Ccc	p.T1934P		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1934							calcium ion binding|zinc ion binding	p.T1934P(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTCCGCAGGGTGGTGGCACTG	0.607000													10	36					0	0	0.411799	0	0
SLC6A19	340024	broad.mit.edu	37	5	1213663	1213663	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:1213663G>T	ENST00000304460.10	+	5	805	c.749G>T	c.(748-750)gGc>gTc	p.G250V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	250					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.G250V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCACCAATGGCATCGTCTTC	0.662000													7	26					0.000274275	0.000358763	0.307466	1	0
TEX15	56154	broad.mit.edu	37	8	30702509	30702509	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:30702509A>T	ENST00000256246.2	-	1	4099	c.4025T>A	c.(4024-4026)gTg>gAg	p.V1342E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1342								p.V1342E(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTATCTGTCACTGCAGCGGC	0.383000													11	63					0	0	0.361761	0	0
SBSN	374897	broad.mit.edu	37	19	36018706	36018706	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36018706C>A	ENST00000452271.2	-	1	506	c.478G>T	c.(478-480)Gca>Tca	p.A160S	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	159	Ala/Gly/His-rich.					extracellular region		p.A160S(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCTGCCCTGCAGCATTGTCG	0.617000													5	51					0.014758	0.0164057	0.184627	1	0
ZMAT1	84460	broad.mit.edu	37	X	101138771	101138771	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:101138771C>A	ENST00000372782.3	-	7	1675	c.1628G>T	c.(1627-1629)cGa>cTa	p.R543L	ZMAT1_ENST00000540921.1_Missense_Mutation_p.R543L|ZMAT1_ENST00000458570.1_Missense_Mutation_p.R372L|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	372						nucleus	zinc ion binding	p.R372L(1)|p.R543L(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTAGGTGTCGTTTTCTCTT	0.388000													7	41					1.06961e-07	1.8141e-07	0.278610	1	0
GAL3ST1	9514	broad.mit.edu	37	22	30951023	30951023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:30951023C>A	ENST00000402321.1	-	3	1506	c.1189G>T	c.(1189-1191)Gag>Tag	p.E397*	GAL3ST1_ENST00000338911.5_Nonsense_Mutation_p.E397*|GAL3ST1_ENST00000406955.1_Nonsense_Mutation_p.E397*|GAL3ST1_ENST00000406361.1_Nonsense_Mutation_p.E397*|GAL3ST1_ENST00000402369.1_Nonsense_Mutation_p.E397*|GAL3ST1_ENST00000401975.1_Nonsense_Mutation_p.E397*|GAL3ST1_ENST00000443111.2_Nonsense_Mutation_p.E397*			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	397					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	p.E397*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TACTGGATCTCGGGCGTGAGC	0.652000													9	44					0.00448238	0.00532629	0.307466	1	0
SIN3A	25942	broad.mit.edu	37	15	75684637	75684637	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:75684637T>C	ENST00000394947.3	-	15	3111	c.2797A>G	c.(2797-2799)Ata>Gta	p.I933V	SIN3A_ENST00000394949.4_Missense_Mutation_p.I933V|SIN3A_ENST00000360439.4_Missense_Mutation_p.I933V	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	933					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	p.I933V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCTCGCTTTATGCCCAGCACT	0.512000													21	107					0	0	0.654019	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534574	3534574	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:3534574T>A	ENST00000315677.3	-	10	2692	c.2097A>T	c.(2095-2097)gcA>gcT	p.A699A	DLGAP1_ENST00000515196.2_Silent_p.A699A|DLGAP1_ENST00000400145.2_Silent_p.A397A|DLGAP1_ENST00000400147.2_Silent_p.A397A|DLGAP1_ENST00000400149.3_Silent_p.A389A|DLGAP1_ENST00000400150.3_Silent_p.A415A|DLGAP1_ENST00000400155.1_Silent_p.A405A|DLGAP1_ENST00000584874.1_Silent_p.A699A|DLGAP1_ENST00000581699.1_Silent_p.A405A|DLGAP1_ENST00000581527.1_Silent_p.A699A|DLGAP1_ENST00000534970.1_Silent_p.A383A|DLGAP1_ENST00000539435.1_Silent_p.A407A	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	699					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.A407A(1)|p.A699A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGGCCTGTACTGCTGTCGTCA	0.463000													16	19					0	0	0.608945	0	0
SELP	6403	broad.mit.edu	37	1	169586396	169586396	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:169586396C>A	ENST00000263686.6	-	3	388	c.351G>T	c.(349-351)tgG>tgT	p.W117C	SELP_ENST00000367792.2_Missense_Mutation_p.W117C|SELP_ENST00000367793.2_Missense_Mutation_p.W117C|SELP_ENST00000458599.2_Missense_Mutation_p.W117C|SELP_ENST00000367791.2_Missense_Mutation_p.W117C|SELP_ENST00000367788.2_Missense_Mutation_p.W117C|SELP_ENST00000367786.2_Missense_Mutation_p.W117C|SELP_ENST00000367794.2_Missense_Mutation_p.W117C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	117	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.W117C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CATTATCAGCCCAGTTCTCAG	0.488000													14	142					3.27435e-08	5.66149e-08	0.457914	1	0
SPTBN4	57731	broad.mit.edu	37	19	40995992	40995992	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:40995992C>A	ENST00000352632.3	+	4	418	c.332C>A	c.(331-333)aCg>aAg	p.T111K	SPTBN4_ENST00000338932.3_Missense_Mutation_p.T111K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.T111K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.T111K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.T111K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	111	Actin-binding.|CH 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.T111K(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCAGGCCCACGCGCGGCCGC	0.672000													4	12					0.000602214	0.000761004	0.184627	1	0
TTC5	91875	broad.mit.edu	37	14	20764550	20764550	+	Splice_Site	SNP	G	G	T	rs150011121		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:20764550G>T	ENST00000258821.3	-	6	751	c.696_splice	c.e6+1	p.T232_splice		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	232					DNA repair	cytoplasm|nucleus	binding	p.T232K(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGGTCTTACCGTCGCCCTGTT	0.423000													8	172					4.68919e-08	8.09569e-08	0.361761	1	0
NME8	51314	broad.mit.edu	37	7	37890007	37890007	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:37890007G>A	ENST00000199447.4	+	4	433	c.61G>A	c.(61-63)Gat>Aat	p.D21N	NME8_ENST00000440017.1_Missense_Mutation_p.D21N|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	21	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.D21N(1)									AAGCCTGTGGGATGAGATGTT	0.493000													26	116					0	0	0.693898	0	0
ADAM9	8754	broad.mit.edu	37	8	38913229	38913229	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:38913229C>A	ENST00000487273.2	+	14	1607	c.1529C>A	c.(1528-1530)gCc>gAc	p.A510D		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	510	Cys-rich.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	p.A510D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AATAACAAAGCCTATTGCTAC	0.383000													5	58					0.00116845	0.00143417	0.217242	1	0
EGF	1950	broad.mit.edu	37	4	110909824	110909824	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:110909824G>C	ENST00000265171.5	+	18	3138	c.2693G>C	c.(2692-2694)cGg>cCg	p.R898P	EGF_ENST00000509793.1_Missense_Mutation_p.R856P|EGF_ENST00000503392.1_Missense_Mutation_p.R898P	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	898	EGF-like 7; calcium-binding (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.R898P(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TATGTCTGCCGGTGCTCAGAA	0.532000													10	44					0	0	0.361761	0	0
OR7G1	125962	broad.mit.edu	37	19	9225719	9225719	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:9225719A>T	ENST00000293614.1	-	1	720	c.721T>A	c.(721-723)Tgt>Agt	p.C241S	OR7G1_ENST00000541538.1_Missense_Mutation_p.C241S			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C241S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TGACAGCCACAGGTGGAAAAC	0.433000													4	32					0	0	0.150653	0	0
GABRB1	2560	broad.mit.edu	37	4	47427945	47427945	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:47427945T>A	ENST00000295454.3	+	9	1627	c.1335T>A	c.(1333-1335)gaT>gaA	p.D445E	GABRB1_ENST00000538619.1_Missense_Mutation_p.D375E	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	445					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.D445E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACTTGACTGATGTGAATTCCA	0.537000													23	81					0	0	0.681144	0	0
SIX3	6496	broad.mit.edu	37	2	45169936	45169936	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:45169936C>A	ENST00000260653.3	+	1	1035	c.693C>A	c.(691-693)ccC>ccA	p.P231P		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	231			P -> R (in HPE2).		visual perception	nucleus		p.P231P(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCCCTACCCCAACCCCAGCA	0.652000													4	22					0.000602214	0.000761004	0.184627	1	0
TLK1	9874	broad.mit.edu	37	2	171910294	171910294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:171910294C>A	ENST00000442919.2	-	8	1180	c.565G>T	c.(565-567)Gga>Tga	p.G189*	TLK1_ENST00000431350.2_Nonsense_Mutation_p.G237*|TLK1_ENST00000521943.1_Nonsense_Mutation_p.G189*|TLK1_ENST00000434911.2_Nonsense_Mutation_p.G141*|TLK1_ENST00000360843.3_Nonsense_Mutation_p.G258*|TLK1_ENST00000486857.1_5'UTR	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	237					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G189*(1)|p.G237*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTATACGTCCCTCCTTCTTT	0.328000													36	121					7.62715e-32	1.57591e-31	0.834066	1	0
CLMP	79827	broad.mit.edu	37	11	122954456	122954456	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:122954456A>G	ENST00000448775.2	-	4	828	c.488T>C	c.(487-489)gTg>gCg	p.V163A		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	163	Ig-like C2-type 2.					integral to membrane|tight junction		p.V163A(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CCAGTAATACACAATGGGCTC	0.498000													4	60					0	0	0.150653	0	0
ADNP2	22850	broad.mit.edu	37	18	77896229	77896229	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:77896229G>T	ENST00000262198.4	+	4	3388	c.2933G>T	c.(2932-2934)aGa>aTa	p.R978I		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	978					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R978I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TCTGTTAAGAGAAAGCTGCCT	0.547000													16	77					1.15088e-07	1.94053e-07	0.500413	1	0
MFSD9	84804	broad.mit.edu	37	2	103335231	103335231	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:103335231C>A	ENST00000258436.5	-	6	1116	c.1073G>T	c.(1072-1074)aGc>aTc	p.S358I		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	358					transmembrane transport	integral to membrane|plasma membrane	transporter activity	p.S358I(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GGTGAGTATGCTGGAATGCAG	0.607000													14	26					3.27435e-08	5.66149e-08	0.457914	1	0
RARB	5915	broad.mit.edu	37	3	25622195	25622195	+	Silent	SNP	C	C	A	rs115482149	by1000genomes	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:25622195C>A	ENST00000330688.4	+	5	1189	c.768C>A	c.(766-768)gcC>gcA	p.A256A	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Silent_p.A263A|RARB_ENST00000437042.2_Silent_p.A144A|RARB_ENST00000458646.1_Silent_p.A144A	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	263	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.A256A(1)|p.A263A(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGCTGAAGGCCGCCTGCCTGG	0.547000													4	54					0.217242	0.22264	0.217242	1	0
PLCB3	5331	broad.mit.edu	37	11	64023045	64023045	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:64023045G>T	ENST00000540288.1	+	7	657	c.554G>T	c.(553-555)cGg>cTg	p.R185L	PLCB3_ENST00000325234.5_Missense_Mutation_p.R118L|PLCB3_ENST00000279230.6_Missense_Mutation_p.R185L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	185					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R185L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GACAAGAAGCGGGTGGAGACT	0.617000													10	44					0.00621372	0.00727137	0.335167	1	0
FCER1G	2207	broad.mit.edu	37	1	161188691	161188691	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:161188691G>A	ENST00000289902.1	+	5	244	c.219G>A	c.(217-219)caG>caA	p.Q73Q	FCER1G_ENST00000490414.1_3'UTR|FCER1G_ENST00000367992.3_Intron	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	73	ITAM.				platelet activation	integral to plasma membrane		p.Q73Q(1)		endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	CCAGGAACCAGGAGACTTACG	0.562000													6	57					0	0	0.217242	0	0
KIAA1429	25962	broad.mit.edu	37	8	95524282	95524282	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:95524282G>C	ENST00000297591.5	-	12	2862	c.2787C>G	c.(2785-2787)ggC>ggG	p.G929G	KIAA1429_ENST00000437199.1_Silent_p.G929G|KIAA1429_ENST00000421249.2_Silent_p.G929G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	929					mRNA processing|RNA splicing	nucleus		p.G929G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAGTGGTAAGGCCAACTCCTT	0.388000													3	14					0	0	0.115264	0	0
GH1	2688	broad.mit.edu	37	17	61995747	61995747	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:61995747G>T	ENST00000323322.5	-	2	172	c.130C>A	c.(130-132)Cat>Aat	p.H44N	GH1_ENST00000458650.2_Missense_Mutation_p.H44N|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.H44N|GH1_ENST00000351388.4_Missense_Mutation_p.H44N	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	44					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.H44N(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TGCAGACGATGGGCGCGGAGC	0.592000													14	165					7.93312e-07	1.26732e-06	0.457914	1	0
MUC17	140453	broad.mit.edu	37	7	100684017	100684017	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:100684017T>A	ENST00000306151.4	+	3	9384	c.9320T>A	c.(9319-9321)tTa>tAa	p.L3107*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3107	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L3107*(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACTCCATTAACAGGTGTG	0.493000													37	237					0	0	0.840704	0	0
ZNF8	7554	broad.mit.edu	37	19	58806148	58806148	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:58806148G>T	ENST00000196548.5	+	4	1105	c.974G>T	c.(973-975)aGt>aTt	p.S325I	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S325I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TTCTGCCATAGTACACACCTT	0.567000													8	45					0.000274275	0.000358763	0.307466	1	0
PABPN1	8106	broad.mit.edu	37	14	23793489	23793489	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:23793489G>T	ENST00000397276.2	+	6	885	c.872G>T	c.(871-873)cGc>cTc	p.R291L	PABPN1_ENST00000556821.1_Missense_Mutation_p.R163L|PABPN1_ENST00000216727.4_Missense_Mutation_p.R291L|PABPN1_ENST00000557702.1_Missense_Mutation_p.R163L|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.R318L|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.R318L					poly(A) binding protein, nuclear 1									p.R291L(1)		large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCCCGGGGTCGCGTCTACAGG	0.632000													15	50					1.52009e-12	2.94581e-12	0.479597	1	0
PTPRH	5794	broad.mit.edu	37	19	55710186	55710186	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:55710186G>T	ENST00000376350.3	-	8	1537	c.1515C>A	c.(1513-1515)tcC>tcA	p.S505S	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.S327S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	505	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S505S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGTAGCTGTAGGAAGACTGGC	0.587000													5	33					0.217242	0.22264	0.217242	1	0
ATP2A3	489	broad.mit.edu	37	17	3839652	3839652	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:3839652C>A	ENST00000309890.7	-	16	2583	c.2433G>T	c.(2431-2433)ccG>ccT	p.P811P	ATP2A3_ENST00000397041.3_Silent_p.P811P|ATP2A3_ENST00000397035.3_Silent_p.P811P|ATP2A3_ENST00000359983.3_Silent_p.P811P|ATP2A3_ENST00000352011.3_Silent_p.P811P|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.P811P	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	811					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.P811P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCAGGTCTGGCGGGTTGAAGC	0.637000													5	54					5.9392e-07	9.621e-07	0.217242	1	0
MROH7	374977	broad.mit.edu	37	1	55134563	55134563	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:55134563C>T	ENST00000414150.2	+	5	1620	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	MROH7_ENST00000339553.5_Silent_p.L448L|MROH7_ENST00000395690.2_Silent_p.L448L|MROH7_ENST00000545244.1_Silent_p.L16L|MROH7_ENST00000421030.2_Silent_p.L448L|MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000409996.1_Silent_p.L16L					maestro heat-like repeat family member 7									p.L448L(4)									GAGCCAGGATCTGCTGGAGGC	0.557000													11	47					0	0	0.387290	0	0
ABCB9	23457	broad.mit.edu	37	12	123428991	123428991	+	Missense_Mutation	SNP	C	C	A	rs147318444		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:123428991C>A	ENST00000542678.1	-	7	4165	c.1327G>T	c.(1327-1329)Ggc>Tgc	p.G443C	ABCB9_ENST00000346530.5_Intron|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000344275.7_Missense_Mutation_p.G443C|ABCB9_ENST00000442833.2_Missense_Mutation_p.G443C|ABCB9_ENST00000442028.2_Missense_Mutation_p.G443C|ABCB9_ENST00000280560.8_Missense_Mutation_p.G443C|ABCB9_ENST00000392439.3_Missense_Mutation_p.G443C|ABCB9_ENST00000540285.1_Missense_Mutation_p.G443C			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	443	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	p.G443C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ATGAGGTTGCCGCTGGTCATC	0.582000													4	74					0.000602214	0.000761004	0.184627	1	0
CYP4F12	66002	broad.mit.edu	37	19	15807280	15807280	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:15807280G>T	ENST00000550308.1	+	12	1735	c.1355G>T	c.(1354-1356)gGg>gTg	p.G452V	CYP4F12_ENST00000324632.9_Missense_Mutation_p.G452V	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.G452V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AACAGCAAGGGGAGGTCACCT	0.547000													14	119					7.93312e-07	1.26732e-06	0.457914	1	0
MYOM1	8736	broad.mit.edu	37	18	3187492	3187492	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:3187492T>A	ENST00000356443.4	-	5	1248	c.915A>T	c.(913-915)gaA>gaT	p.E305D	MYOM1_ENST00000261606.7_Missense_Mutation_p.E305D|MYOM1_ENST00000400569.3_Missense_Mutation_p.E305D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	305	Ig-like C2-type 1.					striated muscle myosin thick filament	structural constituent of muscle	p.E305D(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGACACGAGGTTCTGGCCAGC	0.433000													8	88					0	0	0.307466	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627193	43627193	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:43627193A>T	ENST00000332857.6	-	4	1522	c.1494T>A	c.(1492-1494)caT>caA	p.H498Q		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.H498Q(1)									AAGACTGAAGATGGGCCTGAG	0.537000													18	238					0	0	0.575678	0	0
C7orf31	136895	broad.mit.edu	37	7	25194712	25194712	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:25194712C>G	ENST00000409280.1	-	6	821	c.513G>C	c.(511-513)acG>acC	p.T171T	C7orf31_ENST00000283905.3_Silent_p.T171T			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	171								p.T171T(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CTTTAATGCCCGTGTAGAGGT	0.527000													4	30					0	0	0.184627	0	0
LRP8	7804	broad.mit.edu	37	1	53755277	53755277	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:53755277T>A	ENST00000306052.6	-	3	430	c.329A>T	c.(328-330)gAg>gTg	p.E110V	LRP8_ENST00000354412.3_Missense_Mutation_p.E110V|LRP8_ENST00000347547.2_Missense_Mutation_p.E110V|RP4-784A16.2_ENST00000421637.1_RNA|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.E110V	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	110	LDL-receptor class A 2.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	p.E110V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ATCAGGACACTCCTCCTCGCC	0.597000													4	12					0	0	0.150653	0	0
OR4K5	79317	broad.mit.edu	37	14	20388855	20388855	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:20388855C>A	ENST00000315915.4	+	1	115	c.90C>A	c.(88-90)ttC>ttA	p.F30L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F30L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTTTGTTTCTTCTCTGTGT	0.413000													7	90					0.0293803	0.0318333	0.248553	1	0
CCDC9	26093	broad.mit.edu	37	19	47763903	47763903	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:47763903G>T	ENST00000221922.6	+	5	491	c.269G>T	c.(268-270)aGc>aTc	p.S90I		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	90	Gly-rich.							p.S90I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCAGGGGCCAGCAAGGGGGGC	0.706000													4	42					0.014758	0.0164057	0.184627	1	0
DST	667	broad.mit.edu	37	6	56399962	56399962	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:56399962C>A	ENST00000370754.5	-	63	16805	c.16806G>T	c.(16804-16806)tcG>tcT	p.S5602S	DST_ENST00000421834.2_Silent_p.S3336S|DST_ENST00000446842.2_Silent_p.S5098S|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Silent_p.S3336S|DST_ENST00000370769.4_Silent_p.S5424S|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.S3010S|DST_ENST00000361203.3_Silent_p.S5422S			Q03001	DYST_HUMAN	dystonin	5422					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.S3010S(2)|p.S5424S(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAACTCAGCCGACGGGGGCT	0.478000													6	137					0.0293803	0.0318333	0.248553	1	0
CSHL1	1444	broad.mit.edu	37	17	61987904	61987904	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:61987904G>C	ENST00000392824.4	-	2	452	c.391C>G	c.(391-393)Cct>Gct	p.P131A	CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding	p.?(1)		endometrium(3)|lung(6)	9						TTCTTCCTAGGGGAAGGACCC	0.517000													6	109					0	0	0.217242	0	0
PRDM9	56979	broad.mit.edu	37	5	23509603	23509603	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:23509603T>A	ENST00000296682.3	+	3	276	c.94T>A	c.(94-96)Tcc>Acc	p.S32T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	32	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.S32T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAAAGACATTTCCATATACTT	0.413000										HNSCC(3;0.000094)			30	112					0	0	0.717897	0	0
ZNF225	7768	broad.mit.edu	37	19	44636290	44636290	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:44636290G>C	ENST00000262894.6	+	5	1803	c.1523G>C	c.(1522-1524)gGa>gCa	p.G508A	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.G508A	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G508A(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GTCCACAGTGGAGAAAAACCA	0.378000													21	50					0	0	0.624587	0	0
IGSF3	3321	broad.mit.edu	37	1	117127668	117127668	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:117127668C>A	ENST00000369486.3	-	9	3212	c.2447G>T	c.(2446-2448)cGc>cTc	p.R816L	IGSF3_ENST00000369483.1_Missense_Mutation_p.R836L|IGSF3_ENST00000318837.6_Missense_Mutation_p.R836L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	816	Ig-like C2-type 7.					integral to membrane		p.R816L(1)|p.R836L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAGCCTCAGGCGGCTGTCTGG	0.562000													4	38					1.23904e-05	1.83473e-05	0.184627	1	0
UGT1A7	54577	broad.mit.edu	37	2	234591014	234591014	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:234591014C>G	ENST00000373426.3	+	1	431	c.431C>G	c.(430-432)gCa>gGa	p.A144G	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2												p.A144G(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGTTTTGATGCAGTGTTTCTC	0.373000													14	109					0	0	0.435327	0	0
HOOK1	51361	broad.mit.edu	37	1	60312847	60312847	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:60312847G>C	ENST00000371208.3	+	10	1176	c.919G>C	c.(919-921)Gat>Cat	p.D307H	HOOK1_ENST00000395561.2_Missense_Mutation_p.D265H|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	307	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	p.D307H(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGATGAAATAGATGTTCTTAG	0.333000													14	85					0	0	0.457914	0	0
SIMC1	375484	broad.mit.edu	37	5	175763870	175763870	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:175763870C>G	ENST00000443967.1	+	10	2669	c.2262C>G	c.(2260-2262)ctC>ctG	p.L754L	SIMC1_ENST00000332772.4_Silent_p.L215L|SIMC1_ENST00000341199.6_Silent_p.L339L|SIMC1_ENST00000430704.2_Silent_p.L339L					SUMO-interacting motifs containing 1									p.L754L(1)									CGTCACTGCTCAAGTGTCAGG	0.483000													6	19					0	0	0.217242	0	0
SYNE1	23345	broad.mit.edu	37	6	152720814	152720814	+	Missense_Mutation	SNP	C	C	A	rs146099481	by1000genomes	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:152720814C>A	ENST00000367255.5	-	48	7775	c.7174G>T	c.(7174-7176)Gtg>Ttg	p.V2392L	SYNE1_ENST00000265368.4_Missense_Mutation_p.V2392L|SYNE1_ENST00000341594.5_Missense_Mutation_p.V2429L|SYNE1_ENST00000423061.1_Missense_Mutation_p.V2399L|SYNE1_ENST00000448038.1_Missense_Mutation_p.V2399L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2392					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.V2392L(2)|p.V2399L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTGGCTCACGGCTTCATGT	0.498000										HNSCC(10;0.0054)			26	127					4.26978e-12	8.20564e-12	0.654019	1	0
LRP6	4040	broad.mit.edu	37	12	12334236	12334236	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:12334236C>T	ENST00000261349.4	-	6	1190	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	LRP6_ENST00000543091.1_Missense_Mutation_p.G372S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	372	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.G372S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TAGATGTAGCCTTCCACAGGA	0.453000													8	58					0	0	0.278610	0	0
TRPM4	54795	broad.mit.edu	37	19	49684691	49684691	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:49684691A>T	ENST00000252826.5	+	10	1362	c.1236A>T	c.(1234-1236)gaA>gaT	p.E412D	TRPM4_ENST00000601347.1_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.E412D|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	412					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.E412D(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCAGAGTGAACTCTTTCGGG	0.597000													4	31					0	0	0.150653	0	0
EML1	2009	broad.mit.edu	37	14	100363487	100363487	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:100363487G>T	ENST00000262233.6	+	7	822	c.683G>T	c.(682-684)gGg>gTg	p.G228V	EML1_ENST00000334192.4_Missense_Mutation_p.G247V|EML1_ENST00000327921.9_Missense_Mutation_p.G216V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	228						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.G247V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAAAGCTATGGGTACAGGGGT	0.443000													4	36					0.00909568	0.0104325	0.150653	1	0
MYO1B	4430	broad.mit.edu	37	2	192288585	192288585	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:192288585G>T	ENST00000392318.3	+	31	3557	c.3310G>T	c.(3310-3312)Gac>Tac	p.D1104Y	MYO1B_ENST00000304164.4_Missense_Mutation_p.D1104Y|MYO1B_ENST00000439065.2_Missense_Mutation_p.D349Y|MYO1B_ENST00000339514.4_Missense_Mutation_p.D1046Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.D1075Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1104						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.D1046Y(1)|p.D1104Y(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTTCAGACAGGACAAAGTATG	0.358000													29	68					0.00631998	0.00738823	0.706142	1	0
CHST2	9435	broad.mit.edu	37	3	142841089	142841089	+	Silent	SNP	G	G	T	rs147682013	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:142841089G>T	ENST00000309575.3	+	2	2815	c.1431G>T	c.(1429-1431)acG>acT	p.T477T		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	477					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.T477T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GCAATGCCACGCAGGCCGCCA	0.612000													3	52					0.00909568	0.0104325	0.150653	1	0
RET	5979	broad.mit.edu	37	10	43608348	43608348	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:43608348C>A	ENST00000355710.3	+	9	1928	c.1696C>A	c.(1696-1698)Ccc>Acc	p.P566T	RET_ENST00000340058.5_Missense_Mutation_p.P566T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	566					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.P566T(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CAAGACCTGCCCCGACGGCCA	0.602000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				4	29					0.000602214	0.000761004	0.184627	1	0
ZEB1	6935	broad.mit.edu	37	10	31809741	31809741	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:31809741A>G	ENST00000446923.2	+	7	1821	c.1430A>G	c.(1429-1431)aAa>aGa	p.K477R	ZEB1_ENST00000560721.2_Missense_Mutation_p.K473R|ZEB1_ENST00000361642.5_Missense_Mutation_p.K494R|ZEB1_ENST00000542815.3_Missense_Mutation_p.K426R|ZEB1_ENST00000320985.10_Missense_Mutation_p.K493R|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	493					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.K493R(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAAAATTTAAAAAAAGAAAAT	0.378000													7	52					0	0	0.335167	0	0
MEP1B	4225	broad.mit.edu	37	18	29790580	29790580	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:29790580T>C	ENST00000269202.6	+	10	1083	c.1036T>C	c.(1036-1038)Tat>Cat	p.Y346H	MEP1B_ENST00000581447.1_Missense_Mutation_p.Y346H	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	346	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.Y346H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATTTTACTTATATAACAGTGG	0.423000													4	49					0	0	0.184627	0	0
SPATA16	83893	broad.mit.edu	37	3	172835231	172835231	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:172835231C>A	ENST00000351008.3	-	2	474	c.291G>T	c.(289-291)caG>caT	p.Q97H		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	97					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.Q97H(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTATCTTTGCCTGTTTCTTTC	0.388000													18	129					3.99206e-14	7.88175e-14	0.557998	1	0
SNUPN	10073	broad.mit.edu	37	15	75890754	75890754	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:75890754T>A	ENST00000371091.5	-	10	1606	c.1154A>T	c.(1153-1155)aAg>aTg	p.K385M	SNUPN_ENST00000564675.1_Missense_Mutation_p.K343M|SNUPN_ENST00000567134.1_Missense_Mutation_p.K343M|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000564644.1_Missense_Mutation_p.K343M|SNUPN_ENST00000308588.5_Missense_Mutation_p.K343M			O95149	SPN1_HUMAN	snurportin 1	343					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding	p.K343M(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						ACCCTTCAACTTGGGAGTAGA	0.517000													8	42					0	0	0.307466	0	0
PLD5	200150	broad.mit.edu	37	1	242253272	242253272	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:242253272C>A	ENST00000442594.2	-	11	1728	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S	PLD5_ENST00000427495.1_Missense_Mutation_p.A437S|PLD5_ENST00000536534.1_Missense_Mutation_p.A499S	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	499						integral to membrane	catalytic activity	p.A407S(1)|p.A499S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AAGGTTTTGGCATACGGTGAA	0.478000													31	149					7.61165e-28	1.5699e-27	0.788014	1	0
RNF39	80352	broad.mit.edu	37	6	30041008	30041008	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:30041008G>A	ENST00000244360.6	-	3	705	c.608C>T	c.(607-609)tCc>tTc	p.S203F	RNF39_ENST00000376751.3_Missense_Mutation_p.S203F	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	203			S -> P (in dbSNP:rs2074479).			cytoplasm	zinc ion binding	p.S203F(1)									AGATGACTTGGATGTTGGGAC	0.473000													7	67					0	0	0.248553	0	0
MYO1F	4542	broad.mit.edu	37	19	8619559	8619559	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:8619559C>G	ENST00000338257.8	-	3	477	c.210G>C	c.(208-210)gaG>gaC	p.E70D		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	70	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.E70D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGAGGTCGATCTCACGGTCGG	0.627000													11	33					0	0	0.435327	0	0
NCAM1	4684	broad.mit.edu	37	11	113111527	113111527	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:113111527T>A	ENST00000401611.2	+	16	1857	c.1857T>A	c.(1855-1857)tcT>tcA	p.S619S	NCAM1_ENST00000533760.1_Intron|NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000316851.7_Intron			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	713	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.S619S(1)|p.S54S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTAGCTCGTCTACCCCTGTTC	0.423000													26	128					0	0	0.740014	0	0
SLC23A3	151295	broad.mit.edu	37	2	220034065	220034065	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:220034065C>A	ENST00000455516.2	-	3	431	c.384G>T	c.(382-384)caG>caT	p.Q128H	SLC23A3_ENST00000409878.3_Missense_Mutation_p.Q128H|SLC23A3_ENST00000396775.3_Missense_Mutation_p.Q70H|SLC23A3_ENST00000295738.7_Missense_Mutation_p.Q128H	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	128					transmembrane transport	integral to membrane	protein binding|transporter activity	p.Q128H(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTAGCTTCTGGCTGGTCA	0.587000													5	92					0.0215528	0.0235957	0.217242	1	0
AURKC	6795	broad.mit.edu	37	19	57743931	57743931	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:57743931G>T	ENST00000302804.7	+	4	504	c.318G>T	c.(316-318)ctG>ctT	p.L106L	AURKC_ENST00000415300.2_Silent_p.L87L|AURKC_ENST00000448930.1_Silent_p.L72L|AURKC_ENST00000599062.1_Silent_p.L103L|AURKC_ENST00000598785.1_Silent_p.L72L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	106	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	p.L106L(1)|p.L72L(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TCCTGCGCCTGTATAACTATT	0.483000													18	65					2.94398e-08	5.10556e-08	0.557998	1	0
DTNA	1837	broad.mit.edu	37	18	32431892	32431892	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:32431892G>T	ENST00000283365.9	+	14	1631	c.1280_splice	c.e14+1	p.R427_splice	DTNA_ENST00000269191.6_Splice_Site_p.R484_splice|DTNA_ENST00000399113.3_Splice_Site_p.R484_splice|DTNA_ENST00000444659.1_Splice_Site_p.R484_splice|DTNA_ENST00000597674.1_Splice_Site_p.R106_splice|DTNA_ENST00000399097.3_Splice_Site_p.R132_splice|DTNA_ENST00000269190.7_Splice_Site_p.R485_splice|DTNA_ENST00000598142.1_Splice_Site_p.R427_splice|DTNA_ENST00000591182.1_Splice_Site_p.R132_splice|DTNA_ENST00000599844.1_Splice_Site_p.R106_splice|DTNA_ENST00000269192.7_Splice_Site_p.R193_splice|DTNA_ENST00000597599.1_Splice_Site_p.R424_splice|DTNA_ENST00000399121.5_Splice_Site_p.R424_splice|DTNA_ENST00000601125.1_Splice_Site_p.R106_splice|DTNA_ENST00000348997.5_Splice_Site_p.R481_splice|DTNA_ENST00000598334.1_Splice_Site_p.R424_splice|DTNA_ENST00000596745.1_Splice_Site_p.R234_splice|DTNA_ENST00000595022.1_Splice_Site_p.R424_splice|DTNA_ENST00000598774.1_Splice_Site_p.R427_splice|DTNA_ENST00000556414.3_Splice_Site_p.R136_splice	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	484	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.R132I(1)|p.R485I(1)|p.R484I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AACAAGAACAGGTGAGACTTT	0.463000													6	18					3.59834e-05	5.15003e-05	0.217242	1	0
HGF	3082	broad.mit.edu	37	7	81334734	81334734	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:81334734G>T	ENST00000222390.5	-	17	2208	c.1982C>A	c.(1981-1983)gCt>gAt	p.A661D	HGF_ENST00000457544.2_Missense_Mutation_p.A656D	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	661	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.A661D(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AATCTTTTCAGCCCCAGCACA	0.383000													6	59					0.0215528	0.0235957	0.217242	1	0
SERPINI2	5276	broad.mit.edu	37	3	167167116	167167116	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:167167116C>A	ENST00000476257.1	-	8	1337	c.1039G>T	c.(1039-1041)Gca>Tca	p.A347S	SERPINI2_ENST00000471111.1_Missense_Mutation_p.A347S|SERPINI2_ENST00000264677.4_Missense_Mutation_p.A347S|SERPINI2_ENST00000461846.1_Missense_Mutation_p.A347S			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	347					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.A347S(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GTTGATGTTGCAGCTTCACTA	0.383000													3	21					0.115264	0.121914	0.115264	1	0
LRP4	4038	broad.mit.edu	37	11	46898325	46898325	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:46898325C>A	ENST00000378623.1	-	24	3576	c.3334G>T	c.(3334-3336)Ggc>Tgc	p.G1112C		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1112					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.G1112F(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCTGTGAGCCATCCAGATTG	0.562000													4	97					0.014758	0.0164057	0.184627	1	0
SRRM1	10250	broad.mit.edu	37	1	24977944	24977944	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:24977944T>A	ENST00000323848.9	+	6	881	c.566T>A	c.(565-567)gTc>gAc	p.V189D	SRRM1_ENST00000447431.2_Missense_Mutation_p.V189D|SRRM1_ENST00000374389.4_Missense_Mutation_p.V189D|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Intron	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	189	Arg-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.V189D(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCTTCCCCTGTCAGGAGAGAG	0.463000													4	23					0	0	0.184627	0	0
OR2M2	391194	broad.mit.edu	37	1	248344004	248344004	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248344004G>T	ENST00000359682.2	+	1	717	c.717G>T	c.(715-717)acG>acT	p.T239T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T239T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAGCTTTCACGACCTGTTCCT	0.488000													44	158					9.14704e-12	1.75205e-11	0.840704	1	0
TRPC3	7222	broad.mit.edu	37	4	122833087	122833087	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:122833087C>A	ENST00000264811.5	-	4	1702	c.1284G>T	c.(1282-1284)agG>agT	p.R428S	TRPC3_ENST00000513531.1_Missense_Mutation_p.R373S|TRPC3_ENST00000379645.3_Missense_Mutation_p.R501S	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	416					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R428S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGTTTTCACCCTGAAGATCT	0.413000													6	55					2.0095e-06	3.14069e-06	0.248553	1	0
POGZ	23126	broad.mit.edu	37	1	151377695	151377695	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:151377695G>C	ENST00000271715.2	-	19	4130	c.3816C>G	c.(3814-3816)gtC>gtG	p.V1272V	POGZ_ENST00000361398.3_Silent_p.V1219V|POGZ_ENST00000392723.1_Silent_p.V1219V|POGZ_ENST00000368863.2_Silent_p.V1177V|POGZ_ENST00000540984.1_Silent_p.V634V|POGZ_ENST00000531094.1_Silent_p.V1210V|POGZ_ENST00000491586.1_Silent_p.V1228V|POGZ_ENST00000409503.1_Silent_p.V1263V	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1272	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	p.V1272V(1)|p.V1228V(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAGTTCTTGACAGTTCTTT	0.478000													17	178					0	0	0.520397	0	0
CITED2	10370	broad.mit.edu	37	6	139695043	139695043	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:139695043G>A	ENST00000367651.2	-	2	254	c.39C>T	c.(37-39)ttC>ttT	p.F13F	CITED2_ENST00000536159.1_Silent_p.F13F|CITED2_ENST00000537332.1_Silent_p.F13F	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	13					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.F13F(1)		large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TGCCGTCGGGGAAGCGCCCGT	0.637000													26	161					0	0	0.681144	0	0
IQSEC3	440073	broad.mit.edu	37	12	274680	274680	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:274680C>A	ENST00000538872.1	+	10	2908	c.2790C>A	c.(2788-2790)ttC>ttA	p.F930L	RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.F930L|IQSEC3_ENST00000382841.2_Missense_Mutation_p.F627L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	930	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.F627L(1)|p.F930L(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCATGCAGTTCCAGCTCTTTG	0.493000													7	63					8.12818e-05	0.000111763	0.248553	1	0
VIT	5212	broad.mit.edu	37	2	36994405	36994405	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:36994405T>A	ENST00000379242.3	+	7	958	c.656T>A	c.(655-657)gTg>gAg	p.V219E	VIT_ENST00000404084.1_Missense_Mutation_p.V197E|VIT_ENST00000389975.3_Missense_Mutation_p.V219E|VIT_ENST00000401530.1_Missense_Mutation_p.V219E|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.V219E	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	219						proteinaceous extracellular matrix		p.V219E(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCACAATCAGTGGGCCACAGG	0.552000													12	16					0	0	0.387290	0	0
SLC5A10	125206	broad.mit.edu	37	17	18922899	18922899	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:18922899G>C	ENST00000317977.6	+	12	1886	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q	SLC5A10_ENST00000395643.2_Missense_Mutation_p.E442Q|SLC5A10_ENST00000395642.1_Missense_Mutation_p.E439Q|SLC5A10_ENST00000395647.2_Missense_Mutation_p.E485Q|SLC5A10_ENST00000417251.2_Missense_Mutation_p.E433Q|SLC5A10_ENST00000395645.3_Missense_Mutation_p.E469Q			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	469					sodium ion transport|transmembrane transport	integral to membrane	transporter activity	p.E485Q(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ACGTGCCAACGAGCAGGTGGG	0.642000													8	14					0	0	0.361761	0	0
MLIP	90523	broad.mit.edu	37	6	54095697	54095697	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:54095697T>A	ENST00000502396.1	+	12	2936	c.2904T>A	c.(2902-2904)agT>agA	p.S968R	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000274897.5_Missense_Mutation_p.S433R|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	433						nuclear envelope|PML body	protein binding	p.S433R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCCTCCTCAGTCACAACGCAT	0.468000													21	74					0	0	0.575678	0	0
DLK1	8788	broad.mit.edu	37	14	101195327	101195327	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:101195327C>A	ENST00000341267.4	+	3	428	c.186C>A	c.(184-186)ggC>ggA	p.G62G	DLK1_ENST00000556051.1_Silent_p.G62G|DLK1_ENST00000331224.6_Silent_p.G62G	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	62	EGF-like 2.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.G62G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCTCTCCCGGCTGCCTTCACG	0.622000													6	87					2.0095e-06	3.14069e-06	0.248553	1	0
LILRB1	10859	broad.mit.edu	37	19	55144093	55144093	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:55144093C>A	ENST00000396331.1	+	7	1197	c.840C>A	c.(838-840)gcC>gcA	p.A280A	LILRB1_ENST00000396315.1_Silent_p.A280A|LILRB1_ENST00000324602.7_Silent_p.A280A|LILRB1_ENST00000396332.4_Silent_p.A280A|LILRB1_ENST00000396317.1_Silent_p.A280A|LILRB1_ENST00000396321.2_Silent_p.A280A|LILRB1_ENST00000448689.1_Silent_p.A280A|LILRB1_ENST00000396327.3_Silent_p.A280A|LILRB1_ENST00000418536.2_Silent_p.A280A|LILRB1_ENST00000434867.2_Silent_p.A280A|LILRB1_ENST00000427581.2_Silent_p.A316A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	280	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.A280A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTCCCAGGCCAACTTCACCC	0.632000										HNSCC(37;0.09)			4	80					0.150653	0.156761	0.150653	1	0
ELOVL6	79071	broad.mit.edu	37	4	110972668	110972668	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:110972668C>A	ENST00000394607.3	-	5	787	c.624G>T	c.(622-624)atG>atT	p.M208I	ELOVL6_ENST00000302274.3_Missense_Mutation_p.M208I			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	208					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	p.M208I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		CCACACAGCCCATCAGCATCT	0.517000													7	34					8.12818e-05	0.000111763	0.248553	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769270	31769270	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:31769270C>A	ENST00000240587.4	-	2	1756	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	477					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E477*(1)|p.E294*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACCGCTTTCTCCTTGTCGACT	0.507000													32	205					1.56442e-22	3.20373e-22	0.760397	1	0
MUC3A	4584	broad.mit.edu	37	7	100551873	100551873	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:100551873A>T	ENST00000319509.7	+	1	624	c.624A>T	c.(622-624)acA>acT	p.T208T						mucin 3A, cell surface associated									p.T208T(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCACATCTACAAGTGAGTTCA	0.428000													25	323					0	0	0.654019	0	0
USH2A	7399	broad.mit.edu	37	1	216420508	216420508	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:216420508C>G	ENST00000366943.2	-	13	2614	c.2228G>C	c.(2227-2229)gGa>gCa	p.G743A	USH2A_ENST00000307340.3_Missense_Mutation_p.G743A|USH2A_ENST00000366942.3_Missense_Mutation_p.G743A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	743	Laminin EGF-like 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G743A(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGCTCACATCCAACATCATT	0.403000										HNSCC(13;0.011)			11	78					0	0	0.411799	0	0
GRIP1	23426	broad.mit.edu	37	12	66859187	66859187	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:66859187G>T	ENST00000359742.4	-	8	980	c.740C>A	c.(739-741)gCa>gAa	p.A247E	GRIP1_ENST00000286445.7_Missense_Mutation_p.A247E|GRIP1_ENST00000398016.3_Missense_Mutation_p.A247E			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	247					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	p.A247E(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGCCCGGATGCTGTTGCCAC	0.398000													3	41					0.115264	0.121914	0.115264	1	0
MYBPH	4608	broad.mit.edu	37	1	203144711	203144711	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:203144711G>T	ENST00000255416.4	-	1	230	c.173C>A	c.(172-174)tCc>tAc	p.S58Y		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	58					cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	p.S58Y(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		AGTGGCTGTGGAGGCTGTAGG	0.657000													16	133					4.96729e-08	8.55025e-08	0.575678	1	0
OR2AK2	391191	broad.mit.edu	37	1	248129102	248129102	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248129102T>C	ENST00000366480.3	+	1	568	c.469T>C	c.(469-471)Tgc>Cgc	p.C157R	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C157R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GAAGATCTGCTGCCTCATGGT	0.423000													21	152					0	0	0.608945	0	0
TMEM26	219623	broad.mit.edu	37	10	63170401	63170401	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:63170401G>A	ENST00000399298.3	-	6	1154	c.786C>T	c.(784-786)ttC>ttT	p.F262F	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	262						integral to membrane		p.F262F(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CATCTTGTATGAAGACGCTGA	0.502000													7	17					0	0	0.248553	0	0
SAMD3	154075	broad.mit.edu	37	6	130465706	130465706	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:130465706C>A	ENST00000368134.2	-	14	2130	c.1522G>T	c.(1522-1524)Gaa>Taa	p.E508*	SAMD3_ENST00000439090.2_Nonsense_Mutation_p.E508*|SAMD3_ENST00000437477.2_Nonsense_Mutation_p.E508*|SAMD3_ENST00000457563.2_Nonsense_Mutation_p.E532*	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	508								p.E508*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTTTCCTTTTCTTTCAAAGAA	0.373000													5	35					0.000602214	0.000761004	0.184627	1	0
RYR1	6261	broad.mit.edu	37	19	39009862	39009862	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:39009862C>G	ENST00000355481.4	+	67	10158	c.10027C>G	c.(10027-10029)Cag>Gag	p.Q3343E	RYR1_ENST00000360985.3_Missense_Mutation_p.Q3343E|RYR1_ENST00000359596.3_Missense_Mutation_p.Q3343E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3343					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	p.Q3343E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGTGTTCGCACAGCCCATTGT	0.642000													24	102					0	0	0.624587	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89266241	89266241	+	RNA	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:89266241G>T	ENST00000464162.1	-	0	45																											GAGCTGAGCGGGGACCCTCAT	0.582000													9	115					0.000673444	0.000844547	0.361761	1	0
ATM	472	broad.mit.edu	37	11	108218052	108218052	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:108218052G>A	ENST00000278616.4	+	59	9016	c.8631G>A	c.(8629-8631)ttG>ttA	p.L2877L	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Silent_p.L2877L	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2877	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.L2877L(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGAATATCTTGATAAATGAGC	0.308000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			3	41					0	0	0.115264	0	0
ABCB5	340273	broad.mit.edu	37	7	20738036	20738036	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:20738036C>A	ENST00000404938.2	+	17	2669	c.2017C>A	c.(2017-2019)Ctt>Att	p.L673I	ABCB5_ENST00000258738.6_Missense_Mutation_p.L228I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	228	ABC transporter 2.				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	p.L673I(1)|p.L228I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTAGATAAGTCTTCCTGAAGT	0.323000													7	43					0.00198382	0.00240179	0.248553	1	0
FTSJ2	29960	broad.mit.edu	37	7	2279214	2279214	+	Missense_Mutation	SNP	G	G	A	rs150856697		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:2279214G>A	ENST00000440306.2	-	2	172	c.137C>T	c.(136-138)gCt>gTt	p.A46V	FTSJ2_ENST00000242257.8_Missense_Mutation_p.A46V|FTSJ2_ENST00000486040.1_5'UTR			Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	46					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	p.A46V(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CACCTTCGCAGCCTTCACAAA	0.597000													4	90					0	0	0.184627	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263618	140263618	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140263618C>T	ENST00000289272.2	+	1	1765	c.1765C>T	c.(1765-1767)Cac>Tac	p.H589Y	PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.H589Y|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.H589Y(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGCAGGCCACGTGGTGGC	0.697000													4	48					0	0	0.150653	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692819	187692819	+	Missense_Mutation	SNP	C	C	A	rs147192687		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:187692819C>A	ENST00000295131.2	-	9	1833	c.1794G>T	c.(1792-1794)atG>atT	p.M598I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	598					apoptosis		zinc ion binding	p.M598I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAATTTCCCCCATACAGTTAC	0.353000													5	60					0.184627	0.190397	0.184627	1	0
DPYD	1806	broad.mit.edu	37	1	97981407	97981407	+	Missense_Mutation	SNP	C	C	G	rs142619737	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:97981407C>G	ENST00000370192.3	-	13	1715	c.1615G>C	c.(1615-1617)Gga>Cga	p.G539R		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	539					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.G539R(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AACTTCAATCCGGCCATTTCT	0.448000													8	29					0	0	0.307466	0	0
TRAV8-7	28679	broad.mit.edu	37	14	22600936	22600936	+	RNA	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:22600936G>A	ENST00000390456.3	+	0	281																											TTCTACCTGAGGAAACCATCA	0.507000													4	32					0	0	0.150653	0	0
ZNF208	7757	broad.mit.edu	37	19	22155210	22155210	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:22155210G>T	ENST00000397126.4	-	4	2774	c.2626C>A	c.(2626-2628)Ctt>Att	p.L876I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.L776I(2)|p.L876I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGATAACTAAGGGTTGAGGGC	0.363000													9	62					7.48243e-07	1.20365e-06	0.335167	1	0
KIRREL2	84063	broad.mit.edu	37	19	36349667	36349667	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36349667T>A	ENST00000360202.5	+	4	621	c.423T>A	c.(421-423)ccT>ccA	p.P141P	KIRREL2_ENST00000347900.6_Silent_p.P91P|KIRREL2_ENST00000592409.1_Silent_p.P141P|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Silent_p.P141P|KIRREL2_ENST00000586102.2_Silent_p.P141P	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	141	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane		p.P141P(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGAGTTCCTGCGAACCTGA	0.617000													16	74					0	0	0.520397	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273927	18273927	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:18273927G>C	ENST00000593731.1	+	10	1820	c.1260G>C	c.(1258-1260)cgG>cgC	p.R420R	PIK3R2_ENST00000222254.7_Silent_p.R420R			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	420	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	p.R420R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TGGACACACGGCTCCTCTACC	0.597000													9	27					0	0	0.361761	0	0
CUBN	8029	broad.mit.edu	37	10	17130324	17130324	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:17130324C>A	ENST00000377833.4	-	15	1851	c.1786G>T	c.(1786-1788)Ggt>Tgt	p.G596C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	596	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G596C(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTAAGGACCAGTCAGGATA	0.423000													4	26					0.014758	0.0164057	0.184627	1	0
ENTPD5	957	broad.mit.edu	37	14	74439636	74439636	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:74439636G>A	ENST00000334696.6	-	13	1297	c.978C>T	c.(976-978)ttC>ttT	p.F326F	ENTPD5_ENST00000557325.1_Silent_p.F326F	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	326					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	p.F326F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		AGAAAGCATAGAAGGAACCTC	0.547000													14	174					0	0	0.500413	0	0
ZNF536	9745	broad.mit.edu	37	19	30935931	30935931	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:30935931C>A	ENST00000355537.3	+	2	1609	c.1462C>A	c.(1462-1464)Ctc>Atc	p.L488I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L488I(1)|p.S487>?(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAAGCACTCCCTCCTGGGATG	0.652000													7	54					1.58986e-06	2.51547e-06	0.361761	1	0
PTPN11	5781	broad.mit.edu	37	12	112939999	112939999	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:112939999G>A	ENST00000351677.2	+	14	1849	c.1651G>A	c.(1651-1653)Gac>Aac	p.D551N		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	555					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.D551N(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TTCTCTAGCGGACCAGACGAG	0.453000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				6	62					0	0	0.278610	0	0
IGDCC4	57722	broad.mit.edu	37	15	65677373	65677373	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:65677373C>A	ENST00000352385.2	-	19	3470	c.3261G>T	c.(3259-3261)ccG>ccT	p.P1087P	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1087						integral to membrane|plasma membrane		p.P1087P(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGTCAGAGCCGGCCGGGGGC	0.672000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	37					3.59834e-05	5.15003e-05	0.217242	1	0
CACNA1C	775	broad.mit.edu	37	12	2795394	2795394	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:2795394T>A	ENST00000399655.1	+	45	6008	c.5743T>A	c.(5743-5745)Tct>Act	p.S1915T	CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1923T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1915T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1923T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1934T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S1950T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S1956T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S1950T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S1940T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S1986T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1915T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S1935T|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S1986T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1915T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S1934T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1915T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1915T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S1943T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S1934T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S1963T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1932T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1921T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1998					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.S1963T(1)|p.S1450T(1)|p.S1950T(1)|p.S1956T(1)|p.S2028T(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGGAGACATCTCTCAGAAGAC	0.582000													7	67					0	0	0.307466	0	0
RAD21	5885	broad.mit.edu	37	8	117868937	117868937	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:117868937C>G	ENST00000297338.2	-	7	1049	c.762G>C	c.(760-762)atG>atC	p.M254I		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	254					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	p.M254I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GCTCTGGCAACATCACCCCTG	0.423000													10	85					0	0	0.361761	0	0
SPAG17	200162	broad.mit.edu	37	1	118574352	118574352	+	Missense_Mutation	SNP	A	A	G	rs144404732		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:118574352A>G	ENST00000336338.5	-	25	3637	c.3572T>C	c.(3571-3573)cTt>cCt	p.L1191P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1191						cilium|flagellar axoneme|microtubule		p.L1191P(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTTCTTTAAGGGATTCTTT	0.378000													27	81					0	0	0.706142	0	0
SORCS1	114815	broad.mit.edu	37	10	108367013	108367013	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:108367013G>C	ENST00000263054.6	-	23	3083	c.3076C>G	c.(3076-3078)Cct>Gct	p.P1026A	SORCS1_ENST00000369698.1_Missense_Mutation_p.P561A|SORCS1_ENST00000344440.6_Missense_Mutation_p.P1026A|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1026						integral to membrane	neuropeptide receptor activity|protein binding	p.P1026A(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGTAAGCCAGGGAGCACCGCC	0.562000													4	25					0	0	0.150653	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459941	122459941	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:122459941C>A	ENST00000306103.2	-	7	988	c.845G>T	c.(844-846)cGg>cTg	p.R282L	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	282	JmjC.					cytoplasm		p.R282L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CTCTTCTACCCGGGCTAGGTG	0.428000													13	47					1.52009e-12	2.94581e-12	0.479597	1	0
AP2A1	160	broad.mit.edu	37	19	50302620	50302620	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:50302620G>T	ENST00000354293.5	+	9	1168	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	AP2A1_ENST00000359032.5_Silent_p.L334L	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	334					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	p.L334L(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GCAACCAGCTGGGCCAGTTCC	0.627000													4	11					0.184627	0.190397	0.184627	1	0
ATP8A1	10396	broad.mit.edu	37	4	42596337	42596337	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:42596337T>C	ENST00000264449.10	-	7	712	c.493A>G	c.(493-495)Ata>Gta	p.I165V	ATP8A1_ENST00000381668.5_Intron	NM_001105529.1	NP_001098999.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	165					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.I165V(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCAGCAGGTATATACTCTTTG	0.363000													5	74					0	0	0.217242	0	0
ADCY4	196883	broad.mit.edu	37	14	24800522	24800522	+	Missense_Mutation	SNP	C	C	A	rs148797686		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:24800522C>A	ENST00000310677.4	-	6	823	c.710G>T	c.(709-711)cGa>cTa	p.R237L	ADCY4_ENST00000418030.2_Missense_Mutation_p.R237L|ADCY4_ENST00000554068.2_Missense_Mutation_p.R237L|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	237					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.R237L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CTTCATCTCTCGGGCCAGGTA	0.567000													6	46					0.0293803	0.0318333	0.248553	1	0
CACNA2D1	781	broad.mit.edu	37	7	81589101	81589101	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:81589101A>G	ENST00000356860.3	-	37	3349	c.3011T>C	c.(3010-3012)aTa>aCa	p.I1004T	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.I216T|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.I1016T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1016						voltage-gated calcium channel complex	metal ion binding	p.I1004T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTCAACCATTATGAATATTAA	0.363000													6	35					0	0	0.248553	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134119	119134119	+	Missense_Mutation	SNP	A	A	T	rs12107254		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:119134119A>T	ENST00000264245.4	+	12	3875	c.3343A>T	c.(3343-3345)Att>Ttt	p.I1115F		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1115			I -> L (in dbSNP:rs12107254).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.I1115F(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGCCATTCCCATTGCTGACCT	0.522000													4	56					0	0	0.150653	0	0
OR2W3	343171	broad.mit.edu	37	1	248059679	248059679	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248059679C>A	ENST00000537741.1	+	3	1048	c.791C>A	c.(790-792)gCc>gAc	p.A264D	OR2W3_ENST00000360358.3_Missense_Mutation_p.A264D			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A264D(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGCCAGGAGCCAGTTCTTCC	0.532000													7	66					0.000274275	0.000358763	0.307466	1	0
PROSC	11212	broad.mit.edu	37	8	37633506	37633506	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:37633506T>A	ENST00000328195.3	+	7	735	c.668T>A	c.(667-669)aTg>aAg	p.M223K		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	223							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	GAGCTGAGCATGGGCATGTCC	0.562000													5	80					0	0	0.361761	0	0
OLFM3	118427	broad.mit.edu	37	1	102290605	102290605	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:102290605A>T	ENST00000370103.4	-	4	782	c.569T>A	c.(568-570)cTt>cAt	p.L190H	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.L210H|OLFM3_ENST00000536598.1_Missense_Mutation_p.L115H|OLFM3_ENST00000359814.3_Missense_Mutation_p.L210H	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	210						extracellular region		p.L210H(1)|p.L190H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GCAGTCACGAAGTCTTGTTTC	0.368000													4	35					0	0	0.150653	0	0
MYO7B	4648	broad.mit.edu	37	2	128351172	128351172	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:128351172C>T	ENST00000389524.4	+	18	2250	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	MYO7B_ENST00000428314.1_Missense_Mutation_p.R733W|MYO7B_ENST00000409816.2_Missense_Mutation_p.R733W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	733						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.R733W(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGTGTGGCTGCGGACAGACAA	0.607000													5	55					0	0	0.217242	0	0
CDH17	1015	broad.mit.edu	37	8	95189829	95189829	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:95189829T>A	ENST00000027335.3	-	4	395	c.271A>T	c.(271-273)Act>Tct	p.T91S	CDH17_ENST00000441892.2_Missense_Mutation_p.T91S|CDH17_ENST00000450165.2_Missense_Mutation_p.T91S	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	91	Cadherin 1.					integral to membrane	calcium ion binding	p.T91S(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGATTGTGAGTAGATCTTGTT	0.453000													7	111					0	0	0.248553	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789844	6789844	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:6789844C>A	ENST00000338569.2	-	1	442	c.345G>T	c.(343-345)ctG>ctT	p.L115L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A116S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCATGAAGGCCAGTAGGAGGT	0.517000													3	52					0.115264	0.121914	0.115264	1	0
KIF18A	81930	broad.mit.edu	37	11	28098612	28098612	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:28098612T>C	ENST00000263181.6	-	10	1657	c.1367A>G	c.(1366-1368)tAc>tGc	p.Y456C		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	456					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	p.Y456C(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CTGTTGTTGGTAGAATGATTT	0.274000													10	42					0	0	0.335167	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84907567	84907567	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:84907567A>T	ENST00000262424.5	+	11	1378	c.1154A>T	c.(1153-1155)aAa>aTa	p.K385I	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.K384I|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.K385I	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	385	LCCL 2.					extracellular region|transport vesicle		p.K385I(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TCAAAAGTGAAAGGTAAGCTA	0.343000													20	94					0	0	0.608945	0	0
MUC17	140453	broad.mit.edu	37	7	100677732	100677732	+	Missense_Mutation	SNP	C	C	A	rs150736052		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:100677732C>A	ENST00000306151.4	+	3	3099	c.3035C>A	c.(3034-3036)aCt>aAt	p.T1012N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1012	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1012N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACTCCAACACTCCTTTGACC	0.507000													22	259					1.87028e-06	2.9551e-06	0.608945	1	0
COL6A3	1293	broad.mit.edu	37	2	238253293	238253293	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:238253293C>T	ENST00000295550.4	-	36	7820	c.7368G>A	c.(7366-7368)acG>acA	p.T2456T	COL6A3_ENST00000409809.1_Silent_p.T2250T|COL6A3_ENST00000472056.1_Silent_p.T1849T|COL6A3_ENST00000347401.3_Silent_p.T2255T|COL6A3_ENST00000346358.4_Silent_p.T2256T|COL6A3_ENST00000353578.4_Silent_p.T2250T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2456	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.T2456T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCGGATCTCCGTGGTCACCT	0.547000													6	64					0	0	0.217242	0	0
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:7577046C>A	ENST00000420246.2	-	8	1024	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGGGCAGCTCGTGGTGAGGC	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	39					0.00307968	0.00368986	0.278610	1	0
TRIM44	54765	broad.mit.edu	37	11	35685179	35685179	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:35685179G>T	ENST00000299413.5	+	1	827	c.520G>T	c.(520-522)Gtg>Ttg	p.V174L		NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	174						intracellular	protein binding|zinc ion binding	p.V174L(1)		endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				AGCAGAGAGAGTGGCCAAGAG	0.512000													4	36					0.150653	0.156761	0.150653	1	0
FAM47C	442444	broad.mit.edu	37	X	37027104	37027104	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:37027104G>T	ENST00000358047.3	+	1	673	c.621G>T	c.(619-621)gtG>gtT	p.V207V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	207								p.V207V(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACTCCGGTGTCCAGTCTCC	0.647000													3	23					0.004672	0.0054839	0.115264	1	0
DNAH5	1767	broad.mit.edu	37	5	13894882	13894882	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:13894882T>C	ENST00000265104.4	-	16	2412	c.2308A>G	c.(2308-2310)Att>Gtt	p.I770V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	770	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I770V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATTGCTCAATGGCAGCAGGT	0.413000									Kartagener syndrome				11	104					0	0	0.435327	0	0
ZNF425	155054	broad.mit.edu	37	7	148802424	148802424	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:148802424C>A	ENST00000378061.2	-	4	671	c.539G>T	c.(538-540)cGc>cTc	p.R180L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	180					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R180L(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AATTTCTAAGCGCCCTGGGGT	0.478000													5	62					5.9392e-07	9.621e-07	0.217242	1	0
ZNF425	155054	broad.mit.edu	37	7	148802491	148802491	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:148802491C>A	ENST00000378061.2	-	4	604	c.472G>T	c.(472-474)Gtc>Ttc	p.V158F		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	158					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.V158F(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTGATGCTGACTTTTTTATTT	0.473000													9	106					5.4927e-09	9.80537e-09	0.307466	1	0
FCRL5	83416	broad.mit.edu	37	1	157490895	157490895	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:157490895C>A	ENST00000361835.3	-	11	2584	c.2427G>T	c.(2425-2427)ctG>ctT	p.L809L	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.L809L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	809	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.L809L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCTCTGCAGTCAGAGAGAGGT	0.542000													10	73					1.33987e-11	2.54531e-11	0.361761	1	0
SNHG14	104472715	broad.mit.edu	37	15	25432762	25432762	+	RNA	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:25432762C>A	ENST00000424208.1	+	0	761				SNORD115-10_ENST00000365073.1_RNA	NR_003305.1																						ACGCTGAGGCCCAGCCTAGGT	0.488000													15	169					2.31682e-05	3.3787e-05	0.479597	1	0
LAMB1	3912	broad.mit.edu	37	7	107580556	107580556	+	Silent	SNP	G	G	T	rs141885441		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:107580556G>T	ENST00000393561.1	-	23	3895	c.3711C>A	c.(3709-3711)atC>atA	p.I1237I	LAMB1_ENST00000222399.6_Silent_p.I1213I			P07942	LAMB1_HUMAN	laminin, beta 1	1213	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.I1213I(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTAAGGCCCGATCACACCAC	0.537000													11	85					6.40141e-05	8.96198e-05	0.387290	1	0
NCAM2	4685	broad.mit.edu	37	21	22656612	22656612	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:22656612C>G	ENST00000400546.1	+	3	478	c.229C>G	c.(229-231)Cgg>Ggg	p.R77G	NCAM2_ENST00000535285.1_Missense_Mutation_p.R102G|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	77	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.R77G(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGTTAGGTCACGGTTAACCAT	0.398000													3	36					0	0	0.115264	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502098	140502098	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140502098C>A	ENST00000194152.1	+	1	518	c.518C>A	c.(517-519)cCc>cAc	p.P173H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		173	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.P173H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATCAGCCCCAATTCTCAT	0.443000													4	22					0.00909568	0.0104325	0.150653	1	0
SLC17A3	10786	broad.mit.edu	37	6	25862555	25862555	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:25862555G>A	ENST00000397060.4	-	3	318	c.209C>T	c.(208-210)aCa>aTa	p.T70I	SLC17A3_ENST00000361703.6_Missense_Mutation_p.T70I|SLC17A3_ENST00000360657.3_Missense_Mutation_p.T70I	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	70					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	p.T70I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTGAGGGCTTGTGCTGTTGAC	0.473000													12	46					0	0	0.387290	0	0
TLR4	7099	broad.mit.edu	37	9	120474985	120474985	+	Silent	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:120474985A>C	ENST00000355622.6	+	3	680	c.579A>C	c.(577-579)acA>acC	p.T193T	TLR4_ENST00000394487.4_Silent_p.T153T|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	193					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.T193T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TTTATTGCACAGACTTGCGGG	0.378000													9	51					0	0	0.361761	0	0
GPR112	139378	broad.mit.edu	37	X	135405537	135405537	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:135405537G>T	ENST00000394143.1	+	5	962	c.671G>T	c.(670-672)aGg>aTg	p.R224M	GPR112_ENST00000370652.1_Missense_Mutation_p.R224M|GPR112_ENST00000287534.4_Missense_Mutation_p.R161M|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	224					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R224M(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTGTTGACAGGACACTGCGC	0.433000													5	30					0.014758	0.0164057	0.184627	1	0
TSPAN16	26526	broad.mit.edu	37	19	11411906	11411906	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:11411906C>A	ENST00000316737.1	+	4	522	c.372C>A	c.(370-372)ttC>ttA	p.F124L	TSPAN16_ENST00000590327.1_Missense_Mutation_p.F124L|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.F99L	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	124						integral to membrane		p.F124L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AACACACCTTCGTGACCCTGA	0.483000													9	21					0.000442599	0.000573097	0.335167	1	0
HIVEP1	3096	broad.mit.edu	37	6	12123583	12123583	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:12123583C>T	ENST00000379388.2	+	4	3887	c.3555C>T	c.(3553-3555)caC>caT	p.H1185H		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1185					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.H1185H(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGAAAGTCACCCTTCTCGGG	0.507000													6	20					0	0	0.217242	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802923	185802923	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:185802923C>A	ENST00000302277.6	+	4	3394	c.2800C>A	c.(2800-2802)Ctt>Att	p.L934I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	934						intracellular	zinc ion binding	p.L934I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAATACCCTGCTTGAACACAA	0.393000													5	60					3.59834e-05	5.15003e-05	0.217242	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130219600	130219600	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:130219600C>A	ENST00000276211.5	+	8	1339	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L196M|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L320M	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	332	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.L332M(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCTGCAGTTGCTGGTCTACCT	0.527000													17	123					1.5739e-10	2.93675e-10	0.500413	1	0
KAT6A	7994	broad.mit.edu	37	8	41836297	41836297	+	Splice_Site	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:41836297T>A	ENST00000396930.3	-	7	1451		c.e7-2		KAT6A_ENST00000265713.2_Splice_Site|KAT6A_ENST00000406337.1_Splice_Site|KAT6A_ENST00000485568.1_Splice_Site	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A						histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.?(1)									TCCACATGCCTATAAAAAAAT	0.343000													5	58					0	0	0.184627	0	0
FCRL2	79368	broad.mit.edu	37	1	157716558	157716558	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:157716558G>T	ENST00000361516.3	-	12	1543	c.1495C>A	c.(1495-1497)Caa>Aaa	p.Q499K	FCRL2_ENST00000368181.4_Missense_Mutation_p.Q193K|FCRL2_ENST00000392274.3_Silent_p.P438P	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	499					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.Q499K(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAGATGACTTGGGAGTCCTGG	0.418000													7	38					0.0293803	0.0318333	0.248553	1	0
HPS3	84343	broad.mit.edu	37	3	148857790	148857790	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:148857790G>T	ENST00000296051.2	+	2	357		c.e2-1		HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3							cytoplasm		p.?(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTCCTTCTCAGGAGATTATTT	0.348000									Hermansky-Pudlak syndrome				5	32					1.6384e-10	3.03748e-10	0.248553	1	0
CCDC88A	55704	broad.mit.edu	37	2	55555429	55555429	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:55555429C>A	ENST00000436346.1	-	17	3839		c.e17+1		CCDC88A_ENST00000336838.6_Splice_Site|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Splice_Site|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Splice_Site|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A						activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.?(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AAATCACTTACTGTTTTAAGT	0.259000													4	10					0.00024832	0.000328157	0.150653	1	0
GPD2	2820	broad.mit.edu	37	2	157436299	157436299	+	Splice_Site	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:157436299A>T	ENST00000310454.6	+	16	2429	c.2058_splice	c.e16+1	p.Q686_splice	GPD2_ENST00000409674.1_Splice_Site_p.Q686_splice|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000438166.2_Splice_Site_p.Q686_splice|GPD2_ENST00000496190.1_3'UTR|GPD2_ENST00000409125.4_Splice_Site_p.Q459_splice	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	686	EF-hand 2.				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	p.Q686L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GAATTTTTGCAGGTGAGTTGT	0.313000													6	17					0	0	0.248553	0	0
ACTN2	88	broad.mit.edu	37	1	236924444	236924444	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:236924444G>T	ENST00000366578.4	+	20	2663	c.2497G>T	c.(2497-2499)Gcc>Tcc	p.A833S	ACTN2_ENST00000542672.1_Missense_Mutation_p.A833S|ACTN2_ENST00000546208.1_Missense_Mutation_p.A327S	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	833					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.A833S(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCAGGTCATCGCCTCCTTCCG	0.517000													8	50					0.00829132	0.0096732	0.361761	1	0
GRAP2	9402	broad.mit.edu	37	22	40367050	40367050	+	Missense_Mutation	SNP	C	C	T	rs12759		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:40367050C>T	ENST00000344138.4	+	8	1218	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	GRAP2_ENST00000399090.2_Missense_Mutation_p.L206F|GRAP2_ENST00000543252.1_Missense_Mutation_p.L267F|GRAP2_ENST00000540310.1_Missense_Mutation_p.L253F|GRAP2_ENST00000544756.1_Missense_Mutation_p.L247F|GRAP2_ENST00000407075.3_Missense_Mutation_p.L319F	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	319	SH3 2.		L -> F (in dbSNP:rs12759).		cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	p.L319F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CAAGCTGGGCCTCTTCCCTGC	0.587000													4	63					0	0	0.217242	0	0
ZNF778	197320	broad.mit.edu	37	16	89294046	89294046	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:89294046G>T	ENST00000433976.2	+	6	1598	c.1266G>T	c.(1264-1266)acG>acT	p.T422T	ZNF778_ENST00000306502.6_Silent_p.T380T|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T422T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGCCATACACGTGTAAGGACT	0.498000													3	33					0.004672	0.0054839	0.115264	1	0
PSG11	5680	broad.mit.edu	37	19	43523068	43523068	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:43523068G>T	ENST00000401740.1	-	3	666	c.563C>A	c.(562-564)cCt>cAt	p.P188H	PSG11_ENST00000306322.7_Missense_Mutation_p.P66H|PSG11_ENST00000403486.1_Missense_Mutation_p.P66H|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000320078.7_Missense_Mutation_p.P188H			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	188	Ig-like C2-type 1.				female pregnancy	extracellular region		p.P188H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ATGAGTCATAGGGAGGCTCTG	0.478000													53	275					1.19403e-26	2.4583e-26	0.870114	1	0
CPPED1	55313	broad.mit.edu	37	16	12758931	12758931	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:12758931C>G	ENST00000381774.4	-	4	997	c.757G>C	c.(757-759)Ggg>Cgg	p.G253R	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Missense_Mutation_p.G111R	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	253							hydrolase activity|metal ion binding	p.G253W(2)|p.G253R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TAGGTACCCCCGGCATTCCTG	0.582000													5	34					0	0	0.184627	0	0
DNAH5	1767	broad.mit.edu	37	5	13824389	13824389	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:13824389T>C	ENST00000265104.4	-	39	6602	c.6498A>G	c.(6496-6498)ggA>ggG	p.G2166G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2166					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G2166G(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTTTGCTGCTCCCAAGGTCC	0.418000									Kartagener syndrome				4	46					0	0	0.217242	0	0
ZIC1	7545	broad.mit.edu	37	3	147128031	147128031	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:147128031G>T	ENST00000282928.4	+	1	861	c.132G>T	c.(130-132)atG>atT	p.M44I		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	44					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M44I(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCGACGGCATGGGCGCCTTCA	0.716000													5	41					0.00116845	0.00143417	0.217242	1	0
BPIFB4	149954	broad.mit.edu	37	20	31672780	31672780	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:31672780C>A	ENST00000375483.3	+	4	760	c.760C>A	c.(760-762)Cgt>Agt	p.R254S		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	254						cytoplasm|extracellular region	lipid binding	p.R215S(1)									CTTGTACACCCGTGTGGCCAT	0.637000													4	20					0.150653	0.156761	0.150653	1	0
IZUMO2	126123	broad.mit.edu	37	19	50657931	50657931	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:50657931C>A	ENST00000293405.3	-	6	549	c.549G>T	c.(547-549)ccG>ccT	p.P183P		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	183						integral to membrane		p.P183P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CCTGGTTCCTCGGGTATTTGC	0.622000													4	65					0.00024832	0.000328157	0.150653	1	0
ZNF492	57615	broad.mit.edu	37	19	22847741	22847741	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:22847741G>A	ENST00000456783.2	+	4	1514	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E424K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CTACAAATGTGAAGAATGTGG	0.378000													11	64					0	0	0.435327	0	0
OPRL1	4987	broad.mit.edu	37	20	62724200	62724200	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:62724200G>T	ENST00000349451.3	+	4	539	c.127G>T	c.(127-129)Ggc>Tgc	p.G43C	OPRL1_ENST00000355631.4_Missense_Mutation_p.G43C|OPRL1_ENST00000336866.2_Missense_Mutation_p.G43C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	43					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCCAGCCACGGCGCCTTCCT	0.637000													5	125					0.00116845	0.00143417	0.217242	1	0
OR51V1	283111	broad.mit.edu	37	11	5221658	5221658	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:5221658C>A	ENST00000321255.1	-	1	272	c.273G>T	c.(271-273)ctG>ctT	p.L91L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L91L(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGGATCCCCAGCACTGTGT	0.542000													5	29					0.0293803	0.0318333	0.248553	1	0
APOBEC3H	164668	broad.mit.edu	37	22	39498047	39498047	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:39498047G>T	ENST00000442487.3	+	4	670	c.543_splice	c.e4+1	p.K181_splice	APOBEC3H_ENST00000348946.4_Splice_Site_p.K181_splice|APOBEC3H_ENST00000401756.1_Splice_Site_p.K181_splice|APOBEC3H_ENST00000421988.2_Intron	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	181					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	p.K181N(1)		central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					AGAGGATAAAGGTGAGGCACT	0.552000													4	10					0.014758	0.0164057	0.184627	1	0
GOT2	2806	broad.mit.edu	37	16	58756164	58756164	+	Missense_Mutation	SNP	C	C	A	rs137905758	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:58756164C>A	ENST00000245206.5	-	3	393	c.265G>T	c.(265-267)Gca>Tca	p.A89S	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Intron	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	89					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	p.A89S(1)|p.A89T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAATTTTTTGCGGCAATCTGG	0.408000													12	46					7.03913e-09	1.24888e-08	0.411799	1	0
TLR4	7099	broad.mit.edu	37	9	120475619	120475619	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:120475619G>A	ENST00000355622.6	+	3	1314	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	TLR4_ENST00000394487.4_Missense_Mutation_p.D365N|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	405					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.D405N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AAAGTATTTAGATCTGAGCTT	0.383000													8	36					0	0	0.307466	0	0
GABRA1	2554	broad.mit.edu	37	5	161324315	161324315	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:161324315G>T	ENST00000428797.2	+	11	1613	c.1258G>T	c.(1258-1260)Gac>Tac	p.D420Y	GABRA1_ENST00000420560.1_Missense_Mutation_p.D420Y|GABRA1_ENST00000023897.6_Missense_Mutation_p.D420Y|GABRA1_ENST00000444819.1_Missense_Mutation_p.D420Y|GABRA1_ENST00000437025.2_Missense_Mutation_p.D420Y|GABRA1_ENST00000393943.4_Missense_Mutation_p.D420Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	420					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.D420Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CAGCAAAATTGACCGACTGTC	0.443000													6	78					0.00198382	0.00240179	0.248553	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187694603	187694603	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:187694603C>A	ENST00000295131.2	-	8	985	c.946G>T	c.(946-948)Gtt>Ttt	p.V316F		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	316					apoptosis		zinc ion binding	p.V316F(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GGTGTGTAAACTTGGCTGAAT	0.368000													8	66					0.000673444	0.000844547	0.361761	1	0
LOXL3	84695	broad.mit.edu	37	2	74763528	74763528	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:74763528C>A	ENST00000264094.3	-	6	1054	c.983G>T	c.(982-984)tGg>tTg	p.W328L	LOXL3_ENST00000409986.1_Missense_Mutation_p.W183L|LOXL3_ENST00000409249.1_Missense_Mutation_p.W328L|LOXL3_ENST00000393937.2_Missense_Mutation_p.W183L|LOXL3_ENST00000409549.1_Missense_Mutation_p.W328L	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	328	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.W328L(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GACTGTGCCCCATGTGCTGGC	0.642000													20	35					1.37657e-19	2.78936e-19	0.608945	1	0
SKIL	6498	broad.mit.edu	37	3	170108878	170108878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:170108878C>T	ENST00000458537.3	+	5	2435	c.1726C>T	c.(1726-1728)Cag>Tag	p.Q576*	SKIL_ENST00000426052.2_Nonsense_Mutation_p.Q556*|SKIL_ENST00000413427.2_Nonsense_Mutation_p.Q530*|SKIL_ENST00000259119.4_Nonsense_Mutation_p.Q576*	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	576					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	p.Q576*(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGAAGAACAGCAGAATTTACA	0.313000													4	25					0	0	0.150653	0	0
RIMS2	9699	broad.mit.edu	37	8	105263260	105263260	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:105263260G>T	ENST00000507740.1	+	21	3378	c.3142G>T	c.(3142-3144)Gta>Tta	p.V1048L	RIMS2_ENST00000406091.3_Missense_Mutation_p.V1234L|RIMS2_ENST00000339750.2_Missense_Mutation_p.V170L|RIMS2_ENST00000436393.2_Missense_Mutation_p.V1252L|RIMS2_ENST00000262231.10_Missense_Mutation_p.V1073L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1296					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.V1048L(2)|p.V1252L(1)|p.V1234L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGCACCGTATGTAAAAGTGTA	0.398000										HNSCC(12;0.0054)			6	49					0.00198382	0.00240179	0.248553	1	0
LY86	9450	broad.mit.edu	37	6	6588981	6588981	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:6588981C>A	ENST00000379953.2	+	2	366	c.14C>A	c.(13-15)aCa>aAa	p.T5K	LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000435641.1_RNA|LY86_ENST00000230568.4_Missense_Mutation_p.T5K			O95711	LY86_HUMAN	lymphocyte antigen 86	5					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		p.T5K(1)		large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					AAGGGTTTCACAGCCACTCTC	0.542000													6	75					2.7689e-08	4.80914e-08	0.248553	1	0
MTTP	4547	broad.mit.edu	37	4	100503247	100503247	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:100503247A>G	ENST00000457717.1	+	3	503	c.247A>G	c.(247-249)Acg>Gcg	p.T83A	MTTP_ENST00000511045.1_Missense_Mutation_p.T110A|MTTP_ENST00000265517.5_Missense_Mutation_p.T83A|MTTP_ENST00000422897.2_Missense_Mutation_p.T83A	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	83	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.T83A(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GATCCAAATAACGGTGGGCAT	0.428000													5	39					0	0	0.184627	0	0
MAGI1	9223	broad.mit.edu	37	3	65367734	65367734	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:65367734C>A	ENST00000330909.8	-	17	2602	c.2603G>T	c.(2602-2604)gGt>gTt	p.G868V	MAGI1_ENST00000402939.2_Missense_Mutation_p.G840V|MAGI1_ENST00000483466.1_Missense_Mutation_p.G868V|MAGI1_ENST00000497477.2_Missense_Mutation_p.G840V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	868	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.G840V(1)|p.G868V(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TACGATGTGACCAATATAAAT	0.433000													4	56					0.00909568	0.0104325	0.150653	1	0
NRG1	3084	broad.mit.edu	37	8	32621438	32621438	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:32621438G>T	ENST00000338921.4	+	13	1982	c.1465G>T	c.(1465-1467)Gtg>Ttg	p.V489L	NRG1_ENST00000287845.5_Missense_Mutation_p.V452L|NRG1_ENST00000539990.1_Missense_Mutation_p.V324L|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.V431L|NRG1_ENST00000287842.3_Missense_Mutation_p.V478L|NRG1_ENST00000356819.4_Missense_Mutation_p.V486L|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Missense_Mutation_p.V481L|NRG1_ENST00000405005.2_Missense_Mutation_p.V481L			Q02297	NRG1_HUMAN	neuregulin 1	481					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.V486L(2)|p.V486M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCTACTTCTCGTGACACCACC	0.582000													5	28					1.23904e-05	1.83473e-05	0.184627	1	0
TRAPPC3	27095	broad.mit.edu	37	1	36603508	36603508	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:36603508G>A	ENST00000373166.3	-	4	402	c.312C>T	c.(310-312)tcC>tcT	p.S104S	TRAPPC3_ENST00000462715.1_5'UTR|TRAPPC3_ENST00000373162.1_Silent_p.S58S|TRAPPC3_ENST00000373163.1_Silent_p.S58S|TRAPPC3_ENST00000373159.1_3'UTR	NM_001270896.1|NM_014408.3	NP_001257825.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	104						endoplasmic reticulum	guanylate cyclase activity|heme binding	p.S104S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				CCAAAATGAGGGAGAATTCAT	0.478000													20	45					0	0	0.592651	0	0
HTR2C	3358	broad.mit.edu	37	X	114141823	114141823	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:114141823G>T	ENST00000276198.1	+	6	1950	c.1222G>T	c.(1222-1224)Ggg>Tgg	p.G408W	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.G408W	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	408					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.G408W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGCTTTGTCTGGGAGGGAGCT	0.453000													9	41					1.12685e-05	1.68808e-05	0.307466	1	0
FCRL1	115350	broad.mit.edu	37	1	157772257	157772257	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:157772257C>A	ENST00000358292.3	-	4	568	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	FCRL1_ENST00000368176.3_Missense_Mutation_p.V173L|FCRL1_ENST00000491942.1_Missense_Mutation_p.V173L|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	173	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity	p.V173L(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCTCCCTCACTGAAGGAATC	0.488000													9	55					0.000274275	0.000358763	0.307466	1	0
FSIP2	401024	broad.mit.edu	37	2	186689186	186689186	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:186689186C>A	ENST00000343098.5	+	20	20719	c.20719C>A	c.(20719-20721)Cca>Aca	p.P6907T	FSIP2_ENST00000424728.1_Missense_Mutation_p.P6818T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.P1516T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCACTCAGACCCAAGTGCTAA	0.299000													14	62					8.60227e-14	1.69261e-13	0.500413	1	0
LRP4	4038	broad.mit.edu	37	11	46894697	46894697	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:46894697C>A	ENST00000378623.1	-	30	4779	c.4537G>T	c.(4537-4539)Gac>Tac	p.D1513Y	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1513					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.D1513Y(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAACCCAGGTCTGTGTTGATG	0.547000													9	48					3.09899e-07	5.07706e-07	0.307466	1	0
ACAN	176	broad.mit.edu	37	15	89400832	89400832	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:89400832C>A	ENST00000439576.2	+	12	5390	c.5016C>A	c.(5014-5016)gcC>gcA	p.A1672A	ACAN_ENST00000352105.7_Silent_p.A1672A|ACAN_ENST00000561243.1_Silent_p.A1672A|ACAN_ENST00000559004.1_Silent_p.A1672A	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1672					cell adhesion		hyaluronic acid binding|sugar binding	p.A1558A(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGTCACAGCCTCCACTGCAA	0.537000													6	94					0.00198382	0.00240179	0.248553	1	0
RFX3	5991	broad.mit.edu	37	9	3257050	3257050	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:3257050T>A	ENST00000382004.3	-	15	2066	c.1755A>T	c.(1753-1755)gaA>gaT	p.E585D	RFX3_ENST00000302303.1_Missense_Mutation_p.E585D|RFX3_ENST00000358730.2_Missense_Mutation_p.E585D	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	585					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	p.E585D(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TGGGTCTTCCTTCATAGGGTT	0.458000													18	98					0	0	0.557998	0	0
FLNC	2318	broad.mit.edu	37	7	128498531	128498531	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:128498531G>T	ENST00000325888.8	+	48	8393	c.8132G>T	c.(8131-8133)gGt>gTt	p.G2711V	FLNC_ENST00000346177.6_Missense_Mutation_p.G2678V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2711	Interaction with INPPL1.|Self-association site, tail (By similarity).				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.G2711V(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTCAAGTGGGGTGACGAAAGT	0.547000													5	35					0.014758	0.0164057	0.184627	1	0
KCNJ16	3773	broad.mit.edu	37	17	68128795	68128795	+	Silent	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:68128795T>G	ENST00000585558.1	+	4	1060	c.672T>G	c.(670-672)ctT>ctG	p.L224L	KCNJ16_ENST00000392670.1_Silent_p.L189L|KCNJ16_ENST00000283936.1_Silent_p.L189L|KCNJ16_ENST00000392671.1_Silent_p.L189L|KCNJ16_ENST00000589377.1_Silent_p.L189L|KCNJ16_ENST00000586462.1_Silent_p.L228L			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	189					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.L189L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACTTTGCACTTATAGGTATGA	0.463000													14	70					0	0	0.457914	0	0
SPTB	6710	broad.mit.edu	37	14	65259901	65259901	+	Missense_Mutation	SNP	C	C	A	rs150013838		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:65259901C>A	ENST00000389722.3	-	13	2533	c.2480G>T	c.(2479-2481)cGg>cTg	p.R827L	SPTB_ENST00000389720.3_Missense_Mutation_p.R827L|SPTB_ENST00000389721.5_Missense_Mutation_p.R827L|SPTB_ENST00000556626.1_Missense_Mutation_p.R827L|SPTB_ENST00000542895.1_Missense_Mutation_p.R827L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	827					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.R827L(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTAGAGCTCCCGCAGGGCCTG	0.652000													4	46					0.000602214	0.000761004	0.184627	1	0
TTC40	54777	broad.mit.edu	37	10	134623993	134623993	+	Splice_Site	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:134623993T>A	ENST00000368586.5	-	57	7684	c.7583_splice	c.e57-1	p.R2528_splice	TTC40_ENST00000263170.5_Splice_Site_p.R689_splice	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	689								p.R2528S(1)|p.R689S(1)|p.N157I(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGCCAACAGATCTAGGGGAGA	0.627000													6	29					0	0	0.217242	0	0
ABCG8	64241	broad.mit.edu	37	2	44099139	44099139	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:44099139G>A	ENST00000272286.2	+	7	1079	c.989G>A	c.(988-990)cGc>cAc	p.R330H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	330					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.R330H(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATTGACAGGCGCAGCAGAGAG	0.557000													11	33					0	0	0.411799	0	0
ILVBL	10994	broad.mit.edu	37	19	15233752	15233752	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:15233752A>T	ENST00000263383.3	-	5	694	c.555T>A	c.(553-555)atT>atA	p.I185I	ILVBL_ENST00000534378.1_Silent_p.I78I|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	185						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	p.I185I(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGGTGGGCACAATGTCCCGCA	0.647000													5	60					0	0	0.278610	0	0
HTR1B	3351	broad.mit.edu	37	6	78172306	78172306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:78172306G>T	ENST00000369947.2	-	1	1184	c.815C>A	c.(814-816)tCg>tAg	p.S272*		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	272					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	p.S272*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGGAACCCGCGAGTTAATAGA	0.572000													11	100					0.00829132	0.0096732	0.361761	1	0
MYL4	4635	broad.mit.edu	37	17	45299181	45299181	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:45299181G>T	ENST00000354968.1	+	5	575	c.447G>T	c.(445-447)acG>acT	p.T149T	MYL4_ENST00000393450.1_Silent_p.T149T|MYL4_ENST00000572316.1_Silent_p.T149T	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	149	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	p.T149T(1)|p.?(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						GCAATGGCACGGTCATGGGTG	0.597000													9	29					0.000442599	0.000573097	0.335167	1	0
GOLGA6B	55889	broad.mit.edu	37	15	72953626	72953626	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:72953626G>T	ENST00000421285.3	+	8	586	c.586G>T	c.(586-588)Gtc>Ttc	p.V196F		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	196								p.V196F(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CAGAGAAGCGGTCCTCCACCG	0.572000													4	110					0.184627	0.190397	0.184627	1	0
PCDH10	57575	broad.mit.edu	37	4	134073228	134073228	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:134073228C>G	ENST00000264360.4	+	1	2759	c.1933C>G	c.(1933-1935)Ccg>Gcg	p.P645A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	645	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P645A(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACGCCGAGTCCCGGCCAAGCG	0.662000													5	40					0	0	0.184627	0	0
RELN	5649	broad.mit.edu	37	7	103244895	103244895	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:103244895T>A	ENST00000424685.2	-	23	3203	c.3044A>T	c.(3043-3045)tAt>tTt	p.Y1015F	RELN_ENST00000343529.5_Missense_Mutation_p.Y1015F|RELN_ENST00000428762.1_Missense_Mutation_p.Y1015F			P78509	RELN_HUMAN	reelin	1015					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.Y1015F(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGTGTAATAGCTCTGGCT	0.493000													7	51					0	0	0.278610	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18810034	18810034	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:18810034A>G	ENST00000304414.7	-	2	370	c.159T>C	c.(157-159)tcT>tcC	p.S53S	RP11-1035H13.3_ENST00000567078.2_Silent_p.S53S|ARL6IP1_ENST00000546206.2_Silent_p.S24S|ARL6IP1_ENST00000562819.1_Intron	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	53						integral to membrane	protein binding	p.S53S(1)		breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GAAACACCAAAGAAACCACAC	0.423000													7	85					0	0	0.248553	0	0
FAM83B	222584	broad.mit.edu	37	6	54805949	54805949	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:54805949G>T	ENST00000306858.7	+	5	2296	c.2180G>T	c.(2179-2181)aGa>aTa	p.R727I		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	727								p.R727I(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTTACCAAGAGAAACTCTCCA	0.393000													21	48					1.28384e-07	2.16157e-07	0.608945	1	0
CENPF	1063	broad.mit.edu	37	1	214815375	214815375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:214815375G>T	ENST00000366955.3	+	12	3862	c.3694G>T	c.(3694-3696)Gag>Tag	p.E1232*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1308					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.E1232*(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGGAGAAGGAGTGCCTGCA	0.373000													6	34					0.00116845	0.00143417	0.217242	1	0
SELP	6403	broad.mit.edu	37	1	169565348	169565348	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:169565348C>T	ENST00000263686.6	-	12	1953	c.1916G>A	c.(1915-1917)gGg>gAg	p.G639E	SELP_ENST00000367792.2_Missense_Mutation_p.G455E|SELP_ENST00000367793.2_Missense_Mutation_p.G577E|SELP_ENST00000458599.2_Missense_Mutation_p.G455E|SELP_ENST00000367791.2_Missense_Mutation_p.G453E|SELP_ENST00000367788.2_Missense_Mutation_p.G577E|SELP_ENST00000367786.2_Missense_Mutation_p.G577E|SELP_ENST00000367794.2_Missense_Mutation_p.G577E	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	639					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.G639E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ACATTGCACCCCTGGAGTAGG	0.468000													15	145					0	0	0.479597	0	0
HLX	3142	broad.mit.edu	37	1	221057723	221057723	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:221057723G>T	ENST00000366903.6	+	4	2645	c.1144G>T	c.(1144-1146)Gag>Tag	p.E382*	HLX_ENST00000549319.1_Nonsense_Mutation_p.E168*	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	382	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E382*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CAGCGACTCCGAGTCCCTGGA	0.652000													6	21					0.248553	0.253827	0.248553	1	0
RBM6	10180	broad.mit.edu	37	3	50103766	50103766	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:50103766C>T	ENST00000443081.1	+	17	3297	c.2378C>T	c.(2377-2379)cCc>cTc	p.P793L	RBM6_ENST00000422955.1_Missense_Mutation_p.P403L|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000266022.4_Missense_Mutation_p.P925L|RBM6_ENST00000442092.1_Missense_Mutation_p.P403L|RBM6_ENST00000539992.1_Missense_Mutation_p.P267L			P78332	RBM6_HUMAN	RNA binding motif protein 6	925					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.P925L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGACCCCTCCCCCACAGCCC	0.527000													4	27					0	0	0.150653	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767190	77767190	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:77767190C>A	ENST00000521891.2	+	10	8481	c.8033C>A	c.(8032-8034)cCg>cAg	p.P2678Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2633Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2652Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2633Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2633						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2662Q(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAACGGTGTCCGTTTTGCCGA	0.542000										HNSCC(33;0.089)			6	32					0.00116845	0.00143417	0.217242	1	0
CSMD3	114788	broad.mit.edu	37	8	113694713	113694713	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:113694713C>A	ENST00000297405.5	-	16	2879	c.2635G>T	c.(2635-2637)Gat>Tat	p.D879Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.D839Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D775Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D879Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	879	Sushi 4.					integral to membrane|plasma membrane		p.D879Y(1)|p.D839Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTTTCCATCCATAAGAATA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	100					0.00198382	0.00240179	0.248553	1	0
LRP1	4035	broad.mit.edu	37	12	57573723	57573723	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:57573723G>T	ENST00000243077.3	+	30	5591	c.5125G>T	c.(5125-5127)Gtc>Ttc	p.V1709F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1709					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.V1709F(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGCCTTGTCGTCCACCCTCT	0.622000													16	82					3.45872e-05	5.03126e-05	0.500413	1	0
PIAS3	10401	broad.mit.edu	37	1	145578347	145578347	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:145578347G>T	ENST00000393045.2	+	2	400	c.310G>T	c.(310-312)Ggc>Tgc	p.G104C	PIAS3_ENST00000369299.3_Missense_Mutation_p.G95C|PIAS3_ENST00000369298.1_Intron	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	104	Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.G95C(1)|p.G104C(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTTGGCCCCTGGCACCCTGCT	0.627000													13	90					1.61879e-10	3.0108e-10	0.411799	1	0
MED12L	116931	broad.mit.edu	37	3	151101662	151101662	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:151101662C>A	ENST00000474524.1	+	32	4709	c.4671C>A	c.(4669-4671)gaC>gaA	p.D1557E	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.D1417E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1557					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.D1557E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAACTGTTGACATGCACACTA	0.438000													3	13					0.00024832	0.000328157	0.150653	1	0
LRP4	4038	broad.mit.edu	37	11	46898324	46898324	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:46898324C>A	ENST00000378623.1	-	24	3577	c.3335G>T	c.(3334-3336)gGc>gTc	p.G1112V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1112					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.G1112F(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATGCTGTGAGCCATCCAGATT	0.557000													4	94					0.014758	0.0164057	0.184627	1	0
TCP11	6954	broad.mit.edu	37	6	35088395	35088395	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:35088395C>T	ENST00000311875.5	-	7	1200	c.783G>A	c.(781-783)ctG>ctA	p.L261L	TCP11_ENST00000244645.3_Silent_p.L186L|TCP11_ENST00000418521.2_Silent_p.L185L|TCP11_ENST00000444780.2_Silent_p.L256L|TCP11_ENST00000373974.4_Silent_p.L215L|TCP11_ENST00000512012.1_Silent_p.L248L|TCP11_ENST00000373979.2_Silent_p.L186L|TCP11_ENST00000412155.2_Silent_p.L210L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	248					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.L261L(1)|p.L186L(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CTGCTTGGGTCAGCCATTTGG	0.522000													6	22					0	0	0.248553	0	0
FSD2	123722	broad.mit.edu	37	15	83455968	83455968	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:83455968C>A	ENST00000334574.8	-	2	356	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	FSD2_ENST00000541889.1_Missense_Mutation_p.G59W			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	59								p.G59W(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TTACCATCCCCTGCTCCTCTT	0.448000													5	72					0.00116845	0.00143417	0.217242	1	0
NETO2	81831	broad.mit.edu	37	16	47162481	47162481	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:47162481G>C	ENST00000562435.1	-	4	620	c.236C>G	c.(235-237)gCt>gGt	p.A79G	NETO2_ENST00000303155.5_Missense_Mutation_p.A79G	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	79	CUB 1.					integral to membrane	receptor activity	p.A79G(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTGACGTGGAGCAGCTAGAAA	0.353000										HNSCC(25;0.065)			17	87					0	0	0.520397	0	0
NRDE2	55051	broad.mit.edu	37	14	90755074	90755074	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:90755074A>T	ENST00000354366.3	-	11	2877	c.2645T>A	c.(2644-2646)cTg>cAg	p.L882Q	NRDE2_ENST00000357904.3_Missense_Mutation_p.L651Q	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing									p.L882Q(1)									ACAGTCCTGCAGTGCGTGCTC	0.512000													5	30					0	0	0.217242	0	0
PATZ1	23598	broad.mit.edu	37	22	31722987	31722987	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:31722987T>A	ENST00000266269.5	-	5	2583	c.1954A>T	c.(1954-1956)Aac>Tac	p.N652Y	PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.N606Y|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	652					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N652Y(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						AGAGACATGTTCTGCTGAGGA	0.567000													6	53					0	0	0.248553	0	0
MYCBP2	23077	broad.mit.edu	37	13	77669677	77669677	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:77669677C>G	ENST00000407578.2	-	58	10281	c.10015G>C	c.(10015-10017)Gaa>Caa	p.E3339Q	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3301Q|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E3301Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.E3301Q(1)|p.E3339Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGGTGAGCTTCCATGGTGGGC	0.473000													3	54					0	0	0.115264	0	0
DNAH9	1770	broad.mit.edu	37	17	11593206	11593206	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:11593206T>A	ENST00000262442.3	+	20	4135	c.4067T>A	c.(4066-4068)tTc>tAc	p.F1356Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.F1356Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1356	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F1356Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGGATGCATTCACAGGCCTG	0.587000													9	11					0	0	0.307466	0	0
TMEM207	131920	broad.mit.edu	37	3	190147509	190147509	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:190147509C>A	ENST00000354905.2	-	5	382	c.316G>T	c.(316-318)Gct>Tct	p.A106S		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	106						integral to membrane		p.A106S(1)		endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		GGACTCACAGCTGCTTCTGTC	0.443000													5	47					0.014758	0.0164057	0.184627	1	0
OR4D6	219983	broad.mit.edu	37	11	59225169	59225169	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:59225169G>C	ENST00000300127.2	+	1	759	c.736G>C	c.(736-738)Gtg>Ctg	p.V246L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V246L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCACATGCTGGTGGTGACTCT	0.552000													16	50					0	0	0.500413	0	0
SURF6	6838	broad.mit.edu	37	9	136198959	136198959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:136198959C>A	ENST00000372022.4	-	5	1097	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	278						granular component	DNA binding|RNA binding	p.E278*(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TTCACGCCCTCCGCCTTGTAG	0.682000													16	66					3.41278e-10	6.29675e-10	0.520397	1	0
HSPA13	6782	broad.mit.edu	37	21	15750613	15750613	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:15750613G>A	ENST00000285667.3	-	3	554	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	HSPA13_ENST00000544452.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	163						endoplasmic reticulum|microsome	ATP binding	p.L163F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGCATTCCAAGATATGCCTCT	0.413000													6	35					0	0	0.217242	0	0
RTP2	344892	broad.mit.edu	37	3	187416408	187416408	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:187416408G>T	ENST00000358241.1	-	2	984	c.556C>A	c.(556-558)Ccg>Acg	p.P186T		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	186					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.P186T(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TGGGCCCTCGGCTTGGAGGCT	0.597000													6	41					0.00116845	0.00143417	0.217242	1	0
SUN3	256979	broad.mit.edu	37	7	48068523	48068523	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:48068523T>A	ENST00000297325.4	-	1	172	c.13A>T	c.(13-15)Aca>Tca	p.T5S	SUN3_ENST00000395572.2_Missense_Mutation_p.T5S|SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000453192.2_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	5						integral to membrane		p.T5A(1)|p.T5S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTGCCTTTGTTTTTCCACTC	0.433000													14	51					0	0	0.479597	0	0
C9orf171	389799	broad.mit.edu	37	9	135357749	135357749	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:135357749C>A	ENST00000343036.2	+	2	296	c.248C>A	c.(247-249)gCg>gAg	p.A83E	C9orf171_ENST00000393215.3_Intron|C9orf171_ENST00000393216.2_Intron	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	83								p.A83E(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACTCCTCAGCGGTGCAGAAA	0.493000													8	46					0.000274275	0.000358763	0.307466	1	0
SERPINA4	5267	broad.mit.edu	37	14	95030068	95030068	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:95030068G>T	ENST00000557004.1	+	2	670	c.249G>T	c.(247-249)tcG>tcT	p.S83S	SERPINA4_ENST00000298841.5_Silent_p.S83S|SERPINA4_ENST00000555095.1_Silent_p.S83S|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	83					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.S83S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGAGCATCTCGGCGGCCTACG	0.602000													3	54					0.115264	0.121914	0.115264	1	0
CADM1	23705	broad.mit.edu	37	11	115085438	115085438	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:115085438C>T	ENST00000542447.2	-	7	1012	c.884G>A	c.(883-885)gGg>gAg	p.G295E	CADM1_ENST00000537058.1_Missense_Mutation_p.G295E|CADM1_ENST00000536727.1_Missense_Mutation_p.G295E|CADM1_ENST00000452722.2_Missense_Mutation_p.G295E|CADM1_ENST00000331581.6_Missense_Mutation_p.G295E|CADM1_ENST00000537140.1_5'UTR	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	295	Ig-like C2-type 2.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.G295E(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CAGGTTGGGCCCAGACAGTAC	0.473000													13	63					0	0	0.457914	0	0
EHD3	30845	broad.mit.edu	37	2	31489370	31489370	+	Nonsense_Mutation	SNP	G	G	T	rs35925176		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:31489370G>T	ENST00000322054.5	+	6	1693	c.1408G>T	c.(1408-1410)Gag>Tag	p.E470*	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	470	EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.E470*(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGCCAAGAAGGAGATGGTGCG	0.572000													13	25					0.00010058	0.000137969	0.411799	1	0
NLRP3	114548	broad.mit.edu	37	1	247608039	247608039	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:247608039T>G	ENST00000366497.2	+	8	3536	c.2756T>G	c.(2755-2757)cTg>cGg	p.L919R	NLRP3_ENST00000366496.2_Missense_Mutation_p.L919R|NLRP3_ENST00000391828.3_Missense_Mutation_p.L976R|NLRP3_ENST00000391827.2_Missense_Mutation_p.L919R|NLRP3_ENST00000348069.2_Missense_Mutation_p.L862R|NLRP3_ENST00000336119.3_Missense_Mutation_p.L976R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	976					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L976R(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAGCTGAGCCTGGGCAACAAT	0.562000													5	52					0	0	0.184627	0	0
GPR142	350383	broad.mit.edu	37	17	72368146	72368146	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:72368146C>A	ENST00000335666.4	+	4	844	c.796C>A	c.(796-798)Cat>Aat	p.H266N		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	266						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.H266N(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCCCCTGCACCATCGGGCCGC	0.657000													3	27					0.004672	0.0054839	0.115264	1	0
FSCB	84075	broad.mit.edu	37	14	44975221	44975221	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:44975221C>A	ENST00000340446.4	-	1	1261	c.970G>T	c.(970-972)Gcc>Tcc	p.A324S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	324	Pro-rich.					cilium		p.A324S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACTAAAGGGGCCTCTTCAGCA	0.502000													11	56					6.40141e-05	8.96198e-05	0.387290	1	0
SERPINB3	6317	broad.mit.edu	37	18	61328427	61328427	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:61328427G>T	ENST00000283752.5	-	2	167	c.24C>A	c.(22-24)aaC>aaA	p.N8K	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.N8K	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	8					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.N8K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGAACTTGGTGTTGGCTTCAC	0.413000													19	117					1.01871e-10	1.90699e-10	0.575678	1	0
FOXG1	2290	broad.mit.edu	37	14	29237154	29237154	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:29237154G>T	ENST00000382535.3	+	2	1038	c.669G>T	c.(667-669)caG>caT	p.Q223H	FOXG1_ENST00000313071.4_Missense_Mutation_p.Q223H			P55316	FOXG1_HUMAN	forkhead box G1	223					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.Q223H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGAACAAGCAGGGCTGGCAGA	0.582000													7	38					0.0381472	0.0411392	0.278610	1	0
IGDCC3	9543	broad.mit.edu	37	15	65622728	65622728	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:65622728A>T	ENST00000327987.4	-	11	2012	c.1761T>A	c.(1759-1761)acT>acA	p.T587T		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	587	Fibronectin type-III 2.							p.T587T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATACACTGCAGTGGGGTCTG	0.602000													4	53					0	0	0.217242	0	0
GALR2	8811	broad.mit.edu	37	17	74071323	74071323	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:74071323C>A	ENST00000329003.3	+	1	449	c.359C>A	c.(358-360)tCc>tAc	p.S120Y		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	120					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	p.S120Y(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCCGCCGTCTCCCTGGACAGG	0.682000													7	23					0.248553	0.253827	0.248553	1	0
ITK	3702	broad.mit.edu	37	5	156608057	156608057	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:156608057C>T	ENST00000422843.3	+	1	221	c.69C>T	c.(67-69)ccC>ccT	p.P23P		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	23	PH.		P -> L (in a metastatic melanoma sample; somatic mutation).		cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P23P(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAACTTCTCCCTCGAACTTTA	0.433000			T	SYK	peripheral T-cell lymphoma								8	101					0	0	0.307466	0	0
TBX3	6926	broad.mit.edu	37	12	115112511	115112511	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:115112511G>A	ENST00000349155.2	-	6	2132	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	TBX3_ENST00000257566.3_Missense_Mutation_p.P410L	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	410					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.P410L(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTTGACCGCGGGGCTGCCCTT	0.701000													3	9					0	0	0.115264	0	0
NRG2	9542	broad.mit.edu	37	5	139231259	139231259	+	Silent	SNP	G	G	T	rs141346193		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:139231259G>T	ENST00000541337.1	-	7	1733	c.1504C>A	c.(1504-1506)Cgg>Agg	p.R502R	NRG2_ENST00000361474.1_Silent_p.R568R|NRG2_ENST00000545385.1_Silent_p.R570R|NRG2_ENST00000289409.4_Silent_p.R562R|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289422.7_Silent_p.R576R|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000340391.3_Silent_p.R365R|NRG2_ENST00000358522.3_Silent_p.R570R	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	568					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	p.R568R(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGCGCCGCTCCTCCAGG	0.637000													11	40					3.86212e-05	5.48003e-05	0.361761	1	0
CITED2	10370	broad.mit.edu	37	6	139695015	139695015	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:139695015G>A	ENST00000367651.2	-	2	282	c.67C>T	c.(67-69)Cac>Tac	p.H23Y	CITED2_ENST00000536159.1_Missense_Mutation_p.H23Y|CITED2_ENST00000537332.1_Missense_Mutation_p.H23Y	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	23	His-rich.				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.H23Y(1)		large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TGGGCAGGGTGATGGTGCAGC	0.612000													30	182					0	0	0.729181	0	0
TEX15	56154	broad.mit.edu	37	8	30702944	30702944	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:30702944G>T	ENST00000256246.2	-	1	3664	c.3590C>A	c.(3589-3591)tCt>tAt	p.S1197Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1197								p.S1197Y(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTAGTGCTAGATAAAAATGC	0.313000													3	21					6.4e-05	8.96198e-05	0.115264	1	0
DDO	8528	broad.mit.edu	37	6	110714247	110714247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:110714247C>A	ENST00000368924.3	-	5	856	c.841G>T	c.(841-843)Gag>Tag	p.E281*	DDO_ENST00000368925.1_Nonsense_Mutation_p.E253*|DDO_ENST00000368923.3_Nonsense_Mutation_p.E222*	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	253					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	p.E281*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GAAAGAATCTCTCTGCTATTT	0.547000													16	123					4.14922e-12	8.00058e-12	0.500413	1	0
SLC45A2	51151	broad.mit.edu	37	5	33984644	33984644	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:33984644G>T	ENST00000382102.3	-	1	102	c.45C>A	c.(43-45)tcC>tcA	p.S15S	SLC45A2_ENST00000345083.5_Silent_p.S15S|SLC45A2_ENST00000296589.4_Silent_p.S15S|SLC45A2_ENST00000342059.3_Silent_p.S15S|SLC45A2_ENST00000509381.1_Silent_p.S15S	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	15					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.S15S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CATCAGCTAGGGATTTATAGA	0.582000													6	36					2.0095e-06	3.14069e-06	0.248553	1	0
FANCM	57697	broad.mit.edu	37	14	45665628	45665628	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:45665628G>T	ENST00000267430.5	+	21	5679	c.5594G>T	c.(5593-5595)aGg>aTg	p.R1865M	FANCM_ENST00000542564.2_Missense_Mutation_p.R1839M	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1865	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.R1865M(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GTGGTGGAAAGGAGGTCTCAA	0.398000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	85					0.0215528	0.0235957	0.217242	1	0
AKR1E2	83592	broad.mit.edu	37	10	4872893	4872893	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:4872893A>G	ENST00000298375.7	+	2	137	c.66A>G	c.(64-66)gcA>gcG	p.A22A	AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000334019.4_Silent_p.A22A|AKR1E2_ENST00000345253.5_Silent_p.A22A|AKR1E2_ENST00000532248.1_Silent_p.A22A	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	22						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.A22A(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TGACCGAGGCAGTGAAAGAGG	0.507000													8	69					0	0	0.307466	0	0
ZNF217	7764	broad.mit.edu	37	20	52198754	52198754	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:52198754C>A	ENST00000371471.2	-	2	1037	c.612G>T	c.(610-612)caG>caT	p.Q204H	ZNF217_ENST00000302342.3_Missense_Mutation_p.Q204H			O75362	ZN217_HUMAN	zinc finger protein 217	204					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.Q204H(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCGCGTGCACCTGGACGACCT	0.493000													10	149					2.17888e-05	3.19366e-05	0.335167	1	0
FZD4	8322	broad.mit.edu	37	11	86663317	86663317	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:86663317C>A	ENST00000531380.1	-	2	786	c.481G>T	c.(481-483)Ggg>Tgg	p.G161W	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	161	FZ.				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.G161W(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCACCTGGCCCTTCCATGCAC	0.527000													8	59					1.06961e-07	1.8141e-07	0.278610	1	0
OR6Q1	219952	broad.mit.edu	37	11	57799343	57799343	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:57799343C>T	ENST00000302622.3	+	1	942	c.919C>T	c.(919-921)Cga>Tga	p.R307*	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R307*(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				AGCTCTGGGTCGAGTCTTTTC	0.453000													4	59					0	0	0.150653	0	0
NEUROG3	50674	broad.mit.edu	37	10	71332358	71332358	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:71332358C>A	ENST00000242462.4	-	2	471	c.442G>T	c.(442-444)Gcg>Tcg	p.A148S		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	148					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	p.A148S(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						GGCTCCAGCGCGTACAAGCTG	0.682000													5	15					0.000602214	0.000761004	0.184627	1	0
LRP1B	53353	broad.mit.edu	37	2	141245256	141245256	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:141245256T>C	ENST00000389484.3	-	58	10144	c.9173A>G	c.(9172-9174)tAt>tGt	p.Y3058C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3058					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Y3058C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCGATCCAATAGATGAATTC	0.308000										TSP Lung(27;0.18)			13	46					0	0	0.435327	0	0
TCN1	6947	broad.mit.edu	37	11	59622151	59622151	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:59622151G>T	ENST00000257264.3	-	7	1199	c.1095C>A	c.(1093-1095)gcC>gcA	p.A365A	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	365					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	p.A365A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCATTTTCTGGGCTTTCTCCA	0.378000													5	68					0.00198382	0.00240179	0.248553	1	0
IGF2R	3482	broad.mit.edu	37	6	160480035	160480035	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:160480035G>T	ENST00000356956.1	+	22	3144	c.2996G>T	c.(2995-2997)tGg>tTg	p.W999L		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	999					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.W999L(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTCAAGAATTGGAAGCCAGCA	0.527000													5	50					0.014758	0.0164057	0.184627	1	0
B3GALNT1	8706	broad.mit.edu	37	3	160803765	160803765	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:160803765C>A	ENST00000392781.2	-	8	1525	c.778G>T	c.(778-780)Gta>Tta	p.V260L	B3GALNT1_ENST00000320474.4_Missense_Mutation_p.V260L|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.V260L|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.V260L|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.V260L|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.V260L|B3GALNT1_ENST00000417187.1_Intron	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	260					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.V260L(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			ATGGGTTTTACGTGACCCATC	0.378000													6	57					3.59834e-05	5.15003e-05	0.217242	1	0
NOX3	50508	broad.mit.edu	37	6	155728350	155728350	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:155728350G>T	ENST00000159060.2	-	12	1596	c.1494C>A	c.(1492-1494)gaC>gaA	p.D498E		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	498							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.D498D(1)|p.D498E(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTGTAATCACGTCAGTATTTT	0.388000													5	27					0.014758	0.0164057	0.184627	1	0
OR5V1	81696	broad.mit.edu	37	6	29323886	29323886	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:29323886G>T	ENST00000377154.1	-	4	386	c.87C>A	c.(85-87)acC>acA	p.T29T	OR5V1_ENST00000543825.1_Silent_p.T29T			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T29T(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAAGAAGATGGTGAATAGTA	0.353000													9	71					0.00448238	0.00532629	0.307466	1	0
CAPN6	827	broad.mit.edu	37	X	110494471	110494471	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:110494471G>C	ENST00000324068.1	-	7	1104	c.937C>G	c.(937-939)Ctg>Gtg	p.L313V	CAPN6_ENST00000541758.1_Missense_Mutation_p.L58V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	313	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.L313V(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACAAGCCCCAGGTTCTTGCGA	0.393000													4	26					0	0	0.184627	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151206944	151206944	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:151206944T>A	ENST00000409426.1	+	7	1320	c.875T>A	c.(874-876)cTc>cAc	p.L292H	PIP5K1A_ENST00000414290.2_Missense_Mutation_p.L5H|PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.L291H|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.L304H|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.L292H			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	304	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.L304H(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TACAACGCTCTCTGTAAGACC	0.408000													9	68					0	0	0.335167	0	0
UBE3C	9690	broad.mit.edu	37	7	156963050	156963050	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:156963050G>C	ENST00000348165.5	+	4	608	c.248G>C	c.(247-249)gGg>gCg	p.G83A	UBE3C_ENST00000389103.4_Missense_Mutation_p.G40A	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	83					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.G83A(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCACAGTCCGGGGGCGCTTTT	0.408000													18	88					0	0	0.592651	0	0
KDR	3791	broad.mit.edu	37	4	55981471	55981471	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:55981471T>C	ENST00000263923.4	-	4	761	c.466A>G	c.(466-468)Aat>Gat	p.N156D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	156	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.N156D(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ACGTTGAGATTTGAAATGGAC	0.363000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			3	29					0	0	0.150653	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958471	50958471	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:50958471C>A	ENST00000357701.5	+	19	2172	c.2121C>A	c.(2119-2121)atC>atA	p.I707I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	707	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.I707I(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCGAGGGCATCCTCTATGAGA	0.517000													5	84					2.0095e-06	3.14069e-06	0.248553	1	0
STXBP5	134957	broad.mit.edu	37	6	147646094	147646094	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:147646094G>T	ENST00000367481.3	+	17	1910		c.e17-1		STXBP5_ENST00000179882.6_Splice_Site|STXBP5_ENST00000367480.3_Splice_Site|STXBP5_ENST00000321680.6_Splice_Site	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)						exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.?(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TTTTATTTTAGAGTTAAAAAC	0.313000													4	52					0.150653	0.156761	0.150653	1	0
PCNX	22990	broad.mit.edu	37	14	71444226	71444226	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:71444226G>C	ENST00000304743.2	+	6	1618	c.1172G>C	c.(1171-1173)cGg>cCg	p.R391P	PCNX_ENST00000439984.3_Missense_Mutation_p.R391P|PCNX_ENST00000238570.5_Missense_Mutation_p.R391P	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	391						integral to membrane		p.R391P(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			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)		GGAACGGACCGGGACACTAAC	0.498000													4	43					0	0	0.150653	0	0
NTSR1	4923	broad.mit.edu	37	20	61386226	61386226	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:61386226G>T	ENST00000370501.3	+	2	1275	c.904G>T	c.(904-906)Gtg>Ttg	p.V302L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	302						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.V302L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCGGCACGGCGTGCGCGTCCT	0.701000													11	13					0.0135373	0.0154349	0.411799	1	0
JMJD1C	221037	broad.mit.edu	37	10	64976995	64976995	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:64976995G>A	ENST00000399262.2	-	5	868	c.650C>T	c.(649-651)aCc>aTc	p.T217I	JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.T35I|JMJD1C_ENST00000402544.1_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	217					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.T217I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CATGGTGCGGGTGAAGAGATC	0.368000													9	77					0	0	0.335167	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482259	140482259	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140482259G>T	ENST00000231130.2	+	1	2026	c.2026G>T	c.(2026-2028)Gcg>Tcg	p.A676S		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		676					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A676S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCCCGGAGGCGGCACCGGC	0.667000													9	116					3.86212e-05	5.48003e-05	0.361761	1	0
USP34	9736	broad.mit.edu	37	2	61505300	61505300	+	Splice_Site	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:61505300C>G	ENST00000398571.2	-	41	5509	c.5433_splice	c.e41+1	p.Q1811_splice		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1811					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q1811H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAACACTTACCTGTCCTTCCC	0.348000													5	18					0	0	0.184627	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562033	145562033	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:145562033C>A	ENST00000355594.4	+	10	1808	c.1721C>A	c.(1720-1722)gCc>gAc	p.A574D		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	574								p.A574D(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTAAAGGCAGCCCCAGGGAGC	0.602000													11	59					5.16669e-11	9.75085e-11	0.387290	1	0
PDE1C	5137	broad.mit.edu	37	7	31913022	31913022	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:31913022C>A	ENST00000396184.3	-	7	697		c.e7-1		PDE1C_ENST00000396193.1_Splice_Site|PDE1C_ENST00000396191.1_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site|PDE1C_ENST00000321453.7_Splice_Site	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.?(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGTCCACATCCTGCAGGACAG	0.488000													7	25					8.12818e-05	0.000111763	0.248553	1	0
PROSC	11212	broad.mit.edu	37	8	37633508	37633508	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:37633508G>T	ENST00000328195.3	+	7	737	c.670G>T	c.(670-672)Ggc>Tgc	p.G224C		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	224							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	GCTGAGCATGGGCATGTCCGC	0.562000													5	78					0.000673444	0.000844547	0.361761	1	0
OR8J3	81168	broad.mit.edu	37	11	55904510	55904510	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:55904510G>C	ENST00000301529.1	-	1	684	c.685C>G	c.(685-687)Cgt>Ggt	p.R229G		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R229S(1)|p.R229G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TCTGGTGAACGTATCCTTAGA	0.363000													9	52					0	0	0.307466	0	0
TLR7	51284	broad.mit.edu	37	X	12905856	12905856	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:12905856A>T	ENST00000380659.3	+	3	2368	c.2229A>T	c.(2227-2229)ctA>ctT	p.L743L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	743					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.L743L(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AGTATTTTCTACAAGATGCCT	0.403000													4	33					0	0	0.150653	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73071467	73071467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:73071467G>T	ENST00000263674.3	+	11	4659	c.4309G>T	c.(4309-4311)Gag>Tag	p.E1437*		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1437					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.E1437*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AACCAAGCTGGAGCTGTGCGC	0.627000													8	109					0.000274275	0.000358763	0.307466	1	0
NBAS	51594	broad.mit.edu	37	2	15358968	15358968	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:15358968C>G	ENST00000281513.5	-	48	6386	c.6361G>C	c.(6361-6363)Gag>Cag	p.E2121Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E2001Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2121								p.E2121Q(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGTCCTCCTCAGTCAGGTGA	0.547000													5	58					0	0	0.184627	0	0
AHRR	57491	broad.mit.edu	37	5	434078	434078	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:434078G>T	ENST00000316418.5	+	12	1333	c.1289G>T	c.(1288-1290)aGt>aTt	p.S430I	AHRR_ENST00000505113.1_Missense_Mutation_p.S412I|AHRR_ENST00000506456.1_Missense_Mutation_p.S268I|AHRR_ENST00000512529.1_Missense_Mutation_p.S258I	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.S426I(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGAAAGCACAGTGAGGATGGT	0.687000													3	34					1.23904e-05	1.83473e-05	0.184627	1	0
MCM8	84515	broad.mit.edu	37	20	5966774	5966774	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:5966774A>T	ENST00000378896.3	+	16	2537	c.2160A>T	c.(2158-2160)acA>acT	p.T720T	MCM8_ENST00000378886.2_Silent_p.T760T|MCM8_ENST00000265187.4_Silent_p.T704T|MCM8_ENST00000378883.1_Silent_p.T673T	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	720					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.T704T(1)|p.T720T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTCGTCTGACAGAGGTTTGTT	0.408000													4	37					0	0	0.150653	0	0
MRPS21	54460	broad.mit.edu	37	1	150280583	150280583	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:150280583G>T	ENST00000369084.5	+	2	632	c.185G>T	c.(184-186)cGg>cTg	p.R62L	MRPS21_ENST00000309092.7_Missense_Mutation_p.R62L			P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	62					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	p.R62L(1)		kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGCCGGCGGATCTACAAC	0.547000													7	30					0.00307968	0.00368986	0.278610	1	0
TMEM63C	57156	broad.mit.edu	37	14	77715676	77715676	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:77715676A>G	ENST00000298351.4	+	21	2057	c.1913A>G	c.(1912-1914)aAc>aGc	p.N638S		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	638						integral to membrane		p.N638S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GATCGCTATAACATGTACTAC	0.537000													6	71					0	0	0.278610	0	0
FBXL20	84961	broad.mit.edu	37	17	37437684	37437684	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:37437684T>A	ENST00000264658.6	-	9	914	c.654A>T	c.(652-654)gcA>gcT	p.A218A	FBXL20_ENST00000583610.1_Silent_p.A218A|FBXL20_ENST00000577399.1_Silent_p.A220A|FBXL20_ENST00000394294.3_Silent_p.A186A	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	218						cytoplasm		p.A218A(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CAGGGCAGTGTGCACCTATGT	0.328000													4	48					0	0	0.150653	0	0
TMEM100	55273	broad.mit.edu	37	17	53798315	53798315	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:53798315C>A	ENST00000575734.1	-	4	925	c.117G>T	c.(115-117)gaG>gaT	p.E39D	TMEM100_ENST00000424486.2_Missense_Mutation_p.E39D	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	39						integral to membrane		p.E39D(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TCAACTGAATCTCACTGACCA	0.572000													15	69					1.02788e-11	1.95909e-11	0.520397	1	0
MC3R	4159	broad.mit.edu	37	20	54824621	54824621	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:54824621C>T	ENST00000243911.2	+	1	834	c.722C>T	c.(721-723)gCa>gTa	p.A241V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	278					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.A278V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATGAAGGGGGCAGTCACCATC	0.612000													6	60					0	0	0.217242	0	0
OGDHL	55753	broad.mit.edu	37	10	50953905	50953905	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:50953905T>C	ENST00000374103.4	-	11	1500	c.1415A>G	c.(1414-1416)tAt>tGt	p.Y472C	OGDHL_ENST00000419399.1_Missense_Mutation_p.Y415C|OGDHL_ENST00000432695.1_Missense_Mutation_p.Y263C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	472					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.Y472C(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACTGCACACATATATCACAGC	0.587000													13	38					0	0	0.411799	0	0
VSIG1	340547	broad.mit.edu	37	X	107315961	107315961	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:107315961C>A	ENST00000415430.3	+	5	736	c.575C>A	c.(574-576)aCt>aAt	p.T192N	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Missense_Mutation_p.T156N	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	156	Ig-like C2-type 2.					integral to membrane		p.T192N(2)|p.T156N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						ACTGGCCACACTATTTCCCTT	0.443000													9	58					0.000673444	0.000844547	0.361761	1	0
RYR2	6262	broad.mit.edu	37	1	237730038	237730038	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237730038G>T	ENST00000366574.2	+	28	3703	c.3386G>T	c.(3385-3387)gGc>gTc	p.G1129V	RYR2_ENST00000542537.1_Missense_Mutation_p.G1113V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1127V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1129	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1127F(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGGAGCTTGGCTCAGATGAA	0.532000													20	101					1.96895e-08	3.43525e-08	0.639603	1	0
YAP1	10413	broad.mit.edu	37	11	102033253	102033253	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:102033253A>T	ENST00000282441.5	+	3	1027	c.639A>T	c.(637-639)acA>acT	p.T213T	YAP1_ENST00000537274.1_Silent_p.T213T|YAP1_ENST00000526343.1_Silent_p.T213T|YAP1_ENST00000524575.1_Silent_p.T35T|YAP1_ENST00000345877.2_Silent_p.T213T|YAP1_ENST00000531439.1_Silent_p.T213T	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Yes-associated protein 1	213					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	p.T213T(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		TGAACGTCACAGCCCCCACCA	0.488000													7	118					0	0	0.278610	0	0
COL14A1	7373	broad.mit.edu	37	8	121222052	121222052	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:121222052G>A	ENST00000297848.3	+	12	1649	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	COL14A1_ENST00000309791.4_Missense_Mutation_p.R460Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.R365Q|COL14A1_ENST00000537875.1_Missense_Mutation_p.R460Q	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	460	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R460Q(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACAGCATGCGAGTCAAATGG	0.468000													5	90					0	0	0.248553	0	0
MIR422A	494334	broad.mit.edu	37	15	64163198	64163198	+	RNA	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:64163198C>A	ENST00000362286.1	-	0	20					NR_029944.1																						gccttctgaccctaagtccag	0.512000													12	67					2.27111e-07	3.77429e-07	0.411799	1	0
OLA1	29789	broad.mit.edu	37	2	175006616	175006616	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:175006616G>A	ENST00000284719.3	-	5	732	c.486C>T	c.(484-486)ccC>ccT	p.P162P	OLA1_ENST00000409546.1_Silent_p.P182P|OLA1_ENST00000428402.2_Silent_p.P162P|OLA1_ENST00000344357.5_Silent_p.P4P	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	162					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	p.P162P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TATCTATAATGGGCCCAATCA	0.343000													6	48					0	0	0.248553	0	0
BPIFA1	51297	broad.mit.edu	37	20	31828099	31828099	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:31828099C>G	ENST00000354297.4	+	5	560	c.489C>G	c.(487-489)atC>atG	p.I163M	BPIFA1_ENST00000375422.2_Missense_Mutation_p.I163M|BPIFA1_ENST00000375413.4_Missense_Mutation_p.I163M	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	163					innate immune response	extracellular region	lipid binding	p.I163M(1)									CTGCAGAAATCTTAGCTGTGA	0.557000													36	132					0	0	0.796494	0	0
ADHFE1	137872	broad.mit.edu	37	8	67361160	67361160	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:67361160A>T	ENST00000396623.3	+	8	720	c.689A>T	c.(688-690)cAc>cTc	p.H230L	ADHFE1_ENST00000379385.4_Missense_Mutation_p.H230L|ADHFE1_ENST00000415254.1_Missense_Mutation_p.H182L|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	230					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	p.H230L(1)|p.H182L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CACACCCTCCACATGCCTGCC	0.507000													20	135					0	0	0.624587	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736259	140736259	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140736259G>C	ENST00000571252.1	+	1	1492	c.1492G>C	c.(1492-1494)Ggt>Cgt	p.G498R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTTCCAGGGTGCACCTCT	0.517000													14	89					0	0	0.479597	0	0
SLC12A5	57468	broad.mit.edu	37	20	44663650	44663650	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:44663650A>T	ENST00000454036.1	+	2	261	c.185A>T	c.(184-186)gAg>gTg	p.E62V	SLC12A5_ENST00000539566.1_Missense_Mutation_p.E39V|SLC12A5_ENST00000372315.1_Missense_Mutation_p.E39V|SLC12A5_ENST00000243964.3_Missense_Mutation_p.E39V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	62					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.E39V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGGGAAAGGAGTATGATGGC	0.532000													7	53					0	0	0.278610	0	0
PSG11	5680	broad.mit.edu	37	19	43528960	43528960	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:43528960C>A	ENST00000401740.1	-	2	416	c.313G>T	c.(313-315)Gca>Tca	p.A105S	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A105S			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	105	Ig-like V-type.				female pregnancy	extracellular region		p.A105S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AGCAGGGATGCATTGGAATAT	0.438000													30	188					2.40579e-17	4.8325e-17	0.819951	1	0
RIMS2	9699	broad.mit.edu	37	8	105263899	105263899	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:105263899G>T	ENST00000507740.1	+	22	3579	c.3343G>T	c.(3343-3345)Gat>Tat	p.D1115Y	RIMS2_ENST00000406091.3_Missense_Mutation_p.D1301Y|RIMS2_ENST00000339750.2_Missense_Mutation_p.D237Y|RIMS2_ENST00000436393.2_Missense_Mutation_p.D1319Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.D1140Y	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1363					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.D1115Y(2)|p.D1301Y(1)|p.D1319Y(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATACTTTTAGATGAACTAGA	0.448000										HNSCC(12;0.0054)			14	99					1.49906e-05	2.21126e-05	0.457914	1	0
GABRG3	2567	broad.mit.edu	37	15	27572050	27572050	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:27572050T>A	ENST00000333743.6	+	4	619	c.365T>A	c.(364-366)aTg>aAg	p.M122K	GABRG3_ENST00000555083.1_Missense_Mutation_p.M122K	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	122					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.M122K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AACAGCAACATGGTGGGGTTA	0.448000													4	43					0	0	0.184627	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043860	77043860	+	Missense_Mutation	SNP	A	A	G	rs149440649	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:77043860A>G	ENST00000339142.2	+	5	1091	c.536A>G	c.(535-537)aAc>aGc	p.N179S	C1QTNF1_ENST00000579760.1_Missense_Mutation_p.N179S|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.N179S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.N179S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.N179S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.N179S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.N97S|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.N179S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.N189S|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.N97S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	179	C1q.					collagen		p.N97S(1)|p.N179S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GACCACTTCAACATGTTCACC	0.557000													8	77					0	0	0.335167	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580808	140580808	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140580808C>G	ENST00000354757.3	+	1	1461	c.1461C>G	c.(1459-1461)aaC>aaG	p.N487K	PCDHB11_ENST00000536699.1_Missense_Mutation_p.N122K	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		487	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.N487K(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGGTCAACTACTCGCTAC	0.637000													10	77					0	0	0.335167	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171384	207171384	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:207171384C>T	ENST00000374423.3	+	5	2518	c.2132C>T	c.(2131-2133)cCg>cTg	p.P711L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	711							nucleic acid binding|zinc ion binding	p.P711L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTGATTCTCCGGCTTCTCTT	0.408000													10	34					0	0	0.335167	0	0
CDK11B	984	broad.mit.edu	37	1	1573207	1573207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:1573207C>A	ENST00000407249.3	-	14	1389	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	CDK11B_ENST00000341832.6_Nonsense_Mutation_p.E417*|CDK11B_ENST00000340677.5_Nonsense_Mutation_p.E451*|CDK11B_ENST00000317673.7_Nonsense_Mutation_p.E462*			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	474	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.E464*(1)		endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CCCTCCTTCTCCTTCTCCATC	0.532000													36	56					9.45814e-24	1.94035e-23	0.804634	1	0
LPAL2	80350	broad.mit.edu	37	6	160899605	160899605	+	RNA	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:160899605C>A	ENST00000335388.5	-	0	1279					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GACACTGATTCTGTTTCTGAG	0.483000													4	59					0.150653	0.156761	0.150653	1	0
GPRIN1	114787	broad.mit.edu	37	5	176026677	176026677	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:176026677G>T	ENST00000303991.4	-	2	336	c.159C>A	c.(157-159)agC>agA	p.S53R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	53						growth cone|plasma membrane		p.S53S(1)|p.S53R(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGTGCAGGGCTTGCCTTTT	0.662000													4	85					0.00909568	0.0104325	0.150653	1	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797994	31797994	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:31797994G>T	ENST00000390690.2	-	1	292	c.237C>A	c.(235-237)tcC>tcA	p.S79S		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	79	5 X 10 AA approximate repeats.					intermediate filament		p.S79S(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GGTAGTAGCAGGAGGTGTGGC	0.567000													6	29					0.0293803	0.0318333	0.248553	1	0
NLRP13	126204	broad.mit.edu	37	19	56436007	56436007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:56436007C>A	ENST00000588751.1	-	3	430	c.406G>T	c.(406-408)Gga>Tga	p.G136*	NLRP13_ENST00000342929.3_Nonsense_Mutation_p.G136*			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	136							ATP binding	p.Q135_G136>H*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTTGGCATCCCTGGGTCTGC	0.428000													9	55					1.12685e-05	1.68808e-05	0.307466	1	0
EPHA7	2045	broad.mit.edu	37	6	94120573	94120573	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:94120573G>T	ENST00000369303.4	-	3	662	c.478C>A	c.(478-480)Ctt>Att	p.L160I	EPHA7_ENST00000369297.1_Missense_Mutation_p.L160I	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	160						integral to plasma membrane	ATP binding|ephrin receptor activity	p.D159_L160>EI(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTTTCACCAAGGTCACCTTGG	0.403000													5	80					3.59834e-05	5.15003e-05	0.217242	1	0
HINT1	3094	broad.mit.edu	37	5	130500840	130500840	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:130500840C>T	ENST00000304043.5	-	1	338	c.59G>A	c.(58-60)gGg>gAg	p.G20E	HINT1_ENST00000506207.1_Intron|HINT1_ENST00000506908.1_Missense_Mutation_p.G20E|HINT1_ENST00000508488.1_Missense_Mutation_p.G20E|HINT1_ENST00000513012.1_Missense_Mutation_p.G20E	NM_005340.6	NP_005331.1	P49773	HINT1_HUMAN	histidine triad nucleotide binding protein 1	20	HIT.				signal transduction	cytoplasm|cytoskeleton|nucleus	hydrolase activity|protein kinase C binding	p.G20E(1)		endometrium(1)|large_intestine(1)|lung(3)	5		all_cancers(142;0.0452)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Adenosine monophosphate(DB00131)	GATGATCTTCCCAAAGATCGT	0.597000													3	46					0	0	0.150653	0	0
ABCA13	154664	broad.mit.edu	37	7	48258959	48258959	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:48258959G>T	ENST00000435803.1	+	4	320	c.296G>T	c.(295-297)aGg>aTg	p.R99M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	99					transport	integral to membrane	ATP binding|ATPase activity	p.R44M(1)|p.R99M(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGTTTGTCTAGGTTCCAAACT	0.368000													4	32					0.014758	0.0164057	0.184627	1	0
SPOCK3	50859	broad.mit.edu	37	4	167663171	167663171	+	Missense_Mutation	SNP	C	C	A	rs138814470		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:167663171C>A	ENST00000357154.3	-	10	1117	c.980G>T	c.(979-981)cGg>cTg	p.R327L	SPOCK3_ENST00000357545.4_Missense_Mutation_p.R324L|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R327L|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R276L|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R284L|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R229L|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R324L|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R327L|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R229L|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R207L|SPOCK3_ENST00000535728.1_Missense_Mutation_p.R195L|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R327L|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R231L|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R324L	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	327	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.R324L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TACCCCTTGCCGCTTCTGAAT	0.378000													23	41					6.21321e-17	1.24372e-16	0.639603	1	0
PHF21B	112885	broad.mit.edu	37	22	45312390	45312390	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:45312390C>A	ENST00000313237.5	-	4	484	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S	PHF21B_ENST00000447824.3_Missense_Mutation_p.A100S|PHF21B_ENST00000396103.3_Missense_Mutation_p.A112S|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.A100S	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	112							zinc ion binding	p.A112S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GTGGGGAGGGCTGGGCTGGGG	0.721000													8	55					1.26484e-09	2.2934e-09	0.278610	1	0
ABCB5	340273	broad.mit.edu	37	7	20793064	20793064	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:20793064C>A	ENST00000404938.2	+	27	4163	c.3511C>A	c.(3511-3513)Ctc>Atc	p.L1171I	ABCB5_ENST00000258738.6_Missense_Mutation_p.L726I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	726					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	p.L726I(1)|p.L1171I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGGGCTCTTCTCCAAAAACC	0.408000													9	55					5.4927e-09	9.80537e-09	0.307466	1	0
C22orf31	25770	broad.mit.edu	37	22	29456675	29456675	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:29456675G>T	ENST00000216071.4	-	2	211	c.160C>A	c.(160-162)Cca>Aca	p.P54T		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	54								p.P54T(1)		cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GCTGGTGCTGGGGCATTAATG	0.483000													9	62					1.12685e-05	1.68808e-05	0.307466	1	0
ITGAD	3681	broad.mit.edu	37	16	31409185	31409185	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:31409185G>T	ENST00000389202.2	+	5	431	c.382G>T	c.(382-384)Ggc>Tgc	p.G128C		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	128					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCTCCTGCTGGGCTCGCGCTG	0.642000													4	22					0.014758	0.0164057	0.184627	1	0
NT5DC3	51559	broad.mit.edu	37	12	104200708	104200708	+	Splice_Site	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:104200708C>G	ENST00000392876.3	-	3	434		c.e3-1			NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3								hydrolase activity|metal ion binding	p.?(2)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CTGCTGGATACTAAGAAAGAA	0.428000													5	38					0	0	0.184627	0	0
BCORL1	63035	broad.mit.edu	37	X	129147031	129147031	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:129147031C>T	ENST00000540052.1	+	3	327	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	BCORL1_ENST00000303743.5_Missense_Mutation_p.P95S|BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000359304.2_Missense_Mutation_p.P95S|BCORL1_ENST00000218147.7_Missense_Mutation_p.P95S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	95					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.P95S(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCTGACGATCCCCAGCCAAA	0.597000													4	27					0	0	0.150653	0	0
ASGR2	433	broad.mit.edu	37	17	7004962	7004962	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:7004962C>A	ENST00000380952.2	-	9	1132	c.868G>T	c.(868-870)Gac>Tac	p.D290Y	ASGR2_ENST00000446679.2_Missense_Mutation_p.D271Y|ASGR2_ENST00000355035.5_Missense_Mutation_p.D290Y|ASGR2_ENST00000254850.7_Missense_Mutation_p.D266Y	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	290	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	p.D290Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGGCAGAAGTCATCGTTCCAG	0.597000													9	37					1.12685e-05	1.68808e-05	0.307466	1	0
RBM6	10180	broad.mit.edu	37	3	50103767	50103767	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:50103767C>T	ENST00000443081.1	+	17	3298	c.2379C>T	c.(2377-2379)ccC>ccT	p.P793P	RBM6_ENST00000422955.1_Silent_p.P403P|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000266022.4_Silent_p.P925P|RBM6_ENST00000442092.1_Silent_p.P403P|RBM6_ENST00000539992.1_Silent_p.P267P			P78332	RBM6_HUMAN	RNA binding motif protein 6	925					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.P925L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGACCCCTCCCCCACAGCCCC	0.532000													4	28					0	0	0.150653	0	0
C2orf48	348738	broad.mit.edu	37	2	10350553	10350553	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:10350553G>A	ENST00000381786.3	+	4	599	c.310G>A	c.(310-312)Ggg>Agg	p.G104R		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	104								p.G104R(1)		endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CTTCCAGACAGGGACACCCCT	0.567000													9	42					0	0	0.361761	0	0
C10orf53	282966	broad.mit.edu	37	10	50901862	50901862	+	Missense_Mutation	SNP	T	T	A	rs147880636	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:50901862T>A	ENST00000374113.3	+	2	187	c.140T>A	c.(139-141)aTa>aAa	p.I47K	C10orf53_ENST00000374112.3_Missense_Mutation_p.I47K|CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000535836.1_Missense_Mutation_p.I47K|C10orf53_ENST00000374111.3_Missense_Mutation_p.I47K			Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	47								p.I47K(2)		endometrium(1)|lung(6)	7		all_neural(218;0.107)				CTAGAGAAGATAGAAGACTGG	0.473000													5	53					0	0	0.217242	0	0
MS4A7	58475	broad.mit.edu	37	11	60157028	60157028	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:60157028T>C	ENST00000358246.1	+	4	563	c.370T>C	c.(370-372)Tat>Cat	p.Y124H	MS4A7_ENST00000300184.3_Missense_Mutation_p.Y169H|MS4A7_ENST00000534016.1_Missense_Mutation_p.Y124H|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	169						integral to membrane	receptor activity	p.Y169H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTATCCAATATATGAAATCAA	0.418000													8	60					0	0	0.307466	0	0
ASMT	438	broad.mit.edu	37	X	1748721	1748721	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:1748721G>T	ENST00000381241.3	+	5	650	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	ASMT_ENST00000381229.4_Missense_Mutation_p.G151C|RP13-297E16.3_ENST00000509780.1_RNA|ASMT_ENST00000381233.3_Missense_Mutation_p.G151C	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	151					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	p.G151C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGTCCGAGGGCGAGCGGCT	0.572000													11	77					2.27111e-07	3.77429e-07	0.411799	1	0
CCDC54	84692	broad.mit.edu	37	3	107096575	107096575	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:107096575T>A	ENST00000261058.1	+	1	388	c.141T>A	c.(139-141)acT>acA	p.T47T		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	47								p.T47T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GATATCCCACTGTGACATCTG	0.383000													12	72					0	0	0.435327	0	0
CBLN4	140689	broad.mit.edu	37	20	54573763	54573763	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:54573763C>A	ENST00000064571.2	-	3	1756	c.456G>T	c.(454-456)ggG>ggT	p.G152G		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	152	C1q.					cell junction|extracellular region|synapse		p.G152G(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CATCTTTGTCCCCCGCAAAGG	0.358000													4	74					0.00909568	0.0104325	0.150653	1	0
ZNF208	7757	broad.mit.edu	37	19	22157345	22157345	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:22157345T>C	ENST00000397126.4	-	4	639	c.491A>G	c.(490-492)aAg>aGg	p.K164R	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.K164R(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGCCTTATCTTATGTCTGTT	0.313000													7	82					0	0	0.248553	0	0
PGBD5	79605	broad.mit.edu	37	1	230492710	230492710	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:230492710T>C	ENST00000321327.2	-	4	778	c.779A>G	c.(778-780)tAc>tGc	p.Y260C	PGBD5_ENST00000391860.1_Missense_Mutation_p.Y115C|PGBD5_ENST00000525115.1_Missense_Mutation_p.Y161C			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	161						integral to membrane		p.Y260C(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGGACCTTGTAGAGCCCGTG	0.622000													13	45					0	0	0.435327	0	0
FLNC	2318	broad.mit.edu	37	7	128492994	128492994	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:128492994G>A	ENST00000325888.8	+	37	6378	c.6117G>A	c.(6115-6117)ggG>ggA	p.G2039G	FLNC_ENST00000346177.6_Silent_p.G2006G|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2039					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.G2039G(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGAGATCGGGGACGCCAGCA	0.622000													3	39					0	0	0.115264	0	0
ZNF521	25925	broad.mit.edu	37	18	22669505	22669505	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:22669505G>T	ENST00000361524.3	-	7	3978	c.3830C>A	c.(3829-3831)tCt>tAt	p.S1277Y	ZNF521_ENST00000584787.1_Missense_Mutation_p.S1057Y|ZNF521_ENST00000538137.2_Missense_Mutation_p.S1277Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1277					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.S1277Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCCATGGGCAGAGAAAATATG	0.408000			T	PAX5	ALL								7	51					0.248553	0.253827	0.248553	1	0
AMPH	273	broad.mit.edu	37	7	38530667	38530667	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:38530667G>C	ENST00000356264.2	-	5	594	c.379C>G	c.(379-381)Caa>Gaa	p.Q127E	AMPH_ENST00000428293.2_Missense_Mutation_p.Q127E|AMPH_ENST00000325590.5_Missense_Mutation_p.Q127E	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	127	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.Q127E(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCAGGAAATTGCCCCAGGTAG	0.403000													22	145					0	0	0.639603	0	0
CRMP1	1400	broad.mit.edu	37	4	5844865	5844865	+	Missense_Mutation	SNP	C	C	T	rs146352571	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:5844865C>T	ENST00000324989.7	-	7	1075	c.987G>A	c.(985-987)atG>atA	p.M329I	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.M215I|CRMP1_ENST00000512574.1_Missense_Mutation_p.M213I	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	215					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	p.M329I(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCGTGATGCCCATCTCCAGGA	0.542000													8	68					0	0	0.361761	0	0
MYCBP2	23077	broad.mit.edu	37	13	77663000	77663000	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:77663000T>A	ENST00000407578.2	-	61	10958	c.10692A>T	c.(10690-10692)ctA>ctT	p.L3564L	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Silent_p.L3526L|MYCBP2_ENST00000544440.2_Silent_p.L3526L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.L3564L(1)|p.L3526L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAGATTTCCTTAGGGCCTGTT	0.348000													16	60					0	0	0.520397	0	0
XIRP2	129446	broad.mit.edu	37	2	168103039	168103039	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:168103039G>A	ENST00000409195.1	+	9	5226	c.5137G>A	c.(5137-5139)Gtc>Atc	p.V1713I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V1713I|XIRP2_ENST00000409273.1_Missense_Mutation_p.V1491I|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1538					actin cytoskeleton organization	cell junction	actin binding	p.V1713I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGTGGTGATGTCAAACGTAC	0.338000													3	29					0	0	0.115264	0	0
MUC4	4585	broad.mit.edu	37	3	195497124	195497124	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:195497124A>G	ENST00000463781.3	-	6	13820	c.13361T>C	c.(13360-13362)gTc>gCc	p.V4454A	MUC4_ENST00000475231.1_Intron|MUC4_ENST00000346145.4_Missense_Mutation_p.V218A|MUC4_ENST00000349607.4_Missense_Mutation_p.V167A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1211					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V4454A(1)|p.V4326A(1)|p.V218A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGGCATTGACCCACGTGAC	0.587000													3	16					0	0	0.115264	0	0
TEP1	7011	broad.mit.edu	37	14	20856064	20856064	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:20856064C>A	ENST00000262715.5	-	18	2724	c.2684_splice	c.e18+1	p.G895_splice	TEP1_ENST00000556935.1_Splice_Site_p.G787_splice	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	895					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.G895V(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACAGACTGACCCTTGCTGGGA	0.547000													4	76					0.014758	0.0164057	0.184627	1	0
DNAH7	56171	broad.mit.edu	37	2	196729567	196729567	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:196729567C>A	ENST00000312428.6	-	41	6912	c.6812G>T	c.(6811-6813)tGt>tTt	p.C2271F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2271					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.C2271F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGAAATCACAAAACATTAA	0.378000													16	132					1.5739e-10	2.93675e-10	0.500413	1	0
NYAP1	222950	broad.mit.edu	37	7	100086049	100086049	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:100086049T>C	ENST00000423930.1	+	4	864	c.705T>C	c.(703-705)gcT>gcC	p.A235A	NYAP1_ENST00000300179.2_Silent_p.A235A|NYAP1_ENST00000454988.1_Silent_p.A178A			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	235								p.A235A(1)									GAGGCCTGGCTGGGCCCCCTC	0.637000													9	29					0	0	0.361761	0	0
MACF1	23499	broad.mit.edu	37	1	39800883	39800883	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:39800883G>C	ENST00000564288.1	+	37	9400	c.8623G>C	c.(8623-8625)Ggt>Cgt	p.G2875R	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.G2880R|MACF1_ENST00000567887.1_Missense_Mutation_p.G2912R|MACF1_ENST00000289893.4_Missense_Mutation_p.G1315R|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2880					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.G1315R(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAATCTTAAAGGTAAATCCTT	0.343000													14	39					0	0	0.479597	0	0
CNTN3	5067	broad.mit.edu	37	3	74411047	74411047	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:74411047T>A	ENST00000263665.6	-	10	1385	c.1358A>T	c.(1357-1359)cAt>cTt	p.H453L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	453	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.H453L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATACCTTTCATGCTCCTGCAC	0.458000													3	42					0	0	0.115264	0	0
APBB2	323	broad.mit.edu	37	4	40895341	40895341	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:40895341T>C	ENST00000295974.8	-	11	1968	c.1339A>G	c.(1339-1341)Atc>Gtc	p.I447V	APBB2_ENST00000513140.1_Missense_Mutation_p.I426V|APBB2_ENST00000506352.1_Missense_Mutation_p.I426V|APBB2_ENST00000508593.1_Missense_Mutation_p.I448V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	447	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.I426V(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGTTGCCTGATGCAGTTGTTG	0.512000													10	111					0	0	0.411799	0	0
KMT2B	9757	broad.mit.edu	37	19	36212499	36212499	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:36212499C>T	ENST00000420124.1	+	3	2250	c.2250C>T	c.(2248-2250)ccC>ccT	p.P750P	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Silent_p.P750P														p.P750P(1)									AGCTCCTGCCCCAGGCACTAC	0.667000													9	26					0	0	0.335167	0	0
JAK3	3718	broad.mit.edu	37	19	17949121	17949121	+	Missense_Mutation	SNP	T	T	C	rs140690573		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:17949121T>C	ENST00000458235.1	-	11	1619	c.1520A>G	c.(1519-1521)cAg>cGg	p.Q507R	JAK3_ENST00000527670.1_Missense_Mutation_p.Q507R|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.Q507R	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	507					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.Q507R(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTGACTCAGCTGGTATTGGGA	0.547000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								21	129					0	0	0.624587	0	0
FAT4	79633	broad.mit.edu	37	4	126355443	126355443	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:126355443A>T	ENST00000394329.3	+	7	7075	c.7062A>T	c.(7060-7062)gtA>gtT	p.V2354V	FAT4_ENST00000335110.5_Silent_p.V652V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2354	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V2354V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACGTCATAGTAGATGATGTCA	0.353000													9	88					0	0	0.361761	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964191	94964191	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:94964191T>G	ENST00000341228.2	-	3	1339	c.544A>C	c.(544-546)Agt>Cgt	p.S182R	SERPINA12_ENST00000556881.1_Missense_Mutation_p.S182R	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	182					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.S182R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTTTTTTGACTGATAAAGTCA	0.383000													12	76					0	0	0.411799	0	0
HS3ST2	9956	broad.mit.edu	37	16	22826315	22826315	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:22826315G>C	ENST00000261374.3	+	1	818	c.384G>C	c.(382-384)cgG>cgC	p.R128R		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	128						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	p.R128R(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGGGCACCCGGGCCGTGCTGG	0.647000													5	21					0	0	0.184627	0	0
CLTC	1213	broad.mit.edu	37	17	57725719	57725719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:57725719C>A	ENST00000269122.3	+	4	912	c.638C>A	c.(637-639)tCa>tAa	p.S213*	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Nonsense_Mutation_p.S213*	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	213	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.S213*(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GCAGAAGAATCAACGTTATTT	0.403000			T	"""ALK, TFE3"""	"""ALCL, renal """								16	87					5.03518e-11	9.53383e-11	0.557998	1	0
TTN	7273	broad.mit.edu	37	2	179455492	179455492	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:179455492G>T	ENST00000589042.1	-	304	61184	c.60960C>A	c.(60958-60960)gtC>gtA	p.V20320V	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V18679V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.V11447V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.V11255V|TTN_ENST00000342992.6_Silent_p.V17752V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V11380V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18679	Fibronectin type-III 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V11447V(2)|p.V11255V(2)|p.V17750V(2)|p.V11380V(2)|p.V17752V(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTTTTGTTGACCCTCACCC	0.438000													7	85					0.0293803	0.0318333	0.248553	1	0
PKD1L2	114780	broad.mit.edu	37	16	81181756	81181756	+	RNA	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:81181756C>A	ENST00000525539.1	-	0	4959				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.A1654S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGGTCACTGCCTCAGGTGTC	0.652000													3	11					0.004672	0.0054839	0.115264	1	0
RC3H1	149041	broad.mit.edu	37	1	173947753	173947753	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:173947753C>A	ENST00000367696.2	-	7	1326	c.975G>T	c.(973-975)caG>caT	p.Q325H	RC3H1_ENST00000367694.2_Missense_Mutation_p.Q325H|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q325H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	325					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q325H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGGCTGGAGTCTGCAACTTAA	0.363000													5	28					1.23904e-05	1.83473e-05	0.184627	1	0
ERBB4	2066	broad.mit.edu	37	2	212251683	212251683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:212251683G>A	ENST00000342788.4	-	27	3686	c.3376C>T	c.(3376-3378)Cag>Tag	p.Q1126*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q1116*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q1110*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1126					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.Q1126*(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGTACCTCTGGGTGCTACTG	0.557000										TSP Lung(8;0.080)			7	75					0	0	0.278610	0	0
FYB	2533	broad.mit.edu	37	5	39203004	39203004	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:39203004G>T	ENST00000351578.6	-	2	249	c.59C>A	c.(58-60)cCc>cAc	p.P20H	FYB_ENST00000505428.1_Missense_Mutation_p.P20H|FYB_ENST00000512982.1_Missense_Mutation_p.P20H|FYB_ENST00000515010.1_Missense_Mutation_p.P20H|FYB_ENST00000540520.1_Missense_Mutation_p.P30H	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	20					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P20H(3)|p.P30H(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GACTCTGAAGGGTCGGCTATT	0.488000													11	55					3.86212e-05	5.48003e-05	0.361761	1	0
NPHP1	4867	broad.mit.edu	37	2	110881425	110881425	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:110881425A>T	ENST00000316534.4	-	20	2218	c.2145T>A	c.(2143-2145)ttT>ttA	p.F715L	NPHP1_ENST00000445609.2_Missense_Mutation_p.F659L|NPHP1_ENST00000417665.1_Missense_Mutation_p.F693L|NPHP1_ENST00000393272.3_Missense_Mutation_p.F714L|NPHP1_ENST00000355301.4_Missense_Mutation_p.F596L			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	714					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	p.F715L(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CTGAAAGGTCAAAAGGTTCAT	0.502000													6	33					0	0	0.217242	0	0
CEP164	22897	broad.mit.edu	37	11	117280506	117280506	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:117280506G>C	ENST00000278935.3	+	30	4068	c.3921G>C	c.(3919-3921)aaG>aaC	p.K1307N	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1307					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		p.K1307N(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGGACCCTAAGAGCACCCCCA	0.652000													16	113					0	0	0.500413	0	0
PCK1	5105	broad.mit.edu	37	20	56138123	56138123	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:56138123C>A	ENST00000319441.4	+	5	814	c.650C>A	c.(649-651)aCg>aAg	p.T217K	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.T85K	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	217					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.T217K(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCGGAGCTGACGCTCATCGCC	0.627000													9	74					1.12685e-05	1.68808e-05	0.307466	1	0
COL22A1	169044	broad.mit.edu	37	8	139668139	139668139	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:139668139C>A	ENST00000303045.6	-	45	3780		c.e45+1		COL22A1_ENST00000341807.4_Splice_Site|COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity	p.?(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TATGCTTTTACCTTAGCCAAG	0.358000										HNSCC(7;0.00092)			11	175					2.27111e-07	3.77429e-07	0.411799	1	0
CPA1	1357	broad.mit.edu	37	7	130023602	130023602	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:130023602C>G	ENST00000011292.3	+	6	813	c.663C>G	c.(661-663)acC>acG	p.T221T	CPA1_ENST00000484324.1_Silent_p.T133T	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	221					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.T221T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					AGATCGTCACCAACCCTGATG	0.572000													6	56					0	0	0.307466	0	0
DSC3	1825	broad.mit.edu	37	18	28586988	28586988	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:28586988A>T	ENST00000434452.1	-	12	1927	c.1773T>A	c.(1771-1773)taT>taA	p.Y591*	DSC3_ENST00000360428.4_Nonsense_Mutation_p.Y591*	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	591	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.Y591*(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AAATGTCGGTATACCCCATTT	0.393000													4	39					0	0	0.150653	0	0
GATAD2A	54815	broad.mit.edu	37	19	19606889	19606889	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:19606889G>C	ENST00000404158.1	+	9	1203	c.785G>C	c.(784-786)aGc>aCc	p.S262T	GATAD2A_ENST00000360315.3_Missense_Mutation_p.S262T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.S262T|GATAD2A_ENST00000494516.1_Intron|GATAD2A_ENST00000429563.2_Missense_Mutation_p.S89T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.S262T|GATAD2A_ENST00000537887.1_Intron			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	262					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S262T(1)|p.S119T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CAACATTCCAGCACAGGGCCA	0.617000													8	32					0	0	0.307466	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165627	134165627	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:134165627C>A	ENST00000372264.3	+	1	547	c.243C>A	c.(241-243)gcC>gcA	p.A81A	PPAPDC3_ENST00000372261.1_Silent_p.A81A	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	81	interaction with MTOR (By similarity).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	p.A81A(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		AGGGCATCGCCTTCAACTCCC	0.662000													10	75					6.42651e-13	1.25171e-12	0.387290	1	0
CDH12	1010	broad.mit.edu	37	5	21752217	21752217	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:21752217C>G	ENST00000382254.1	-	15	3100	c.2014G>C	c.(2014-2016)Gct>Cct	p.A672P	CDH12_ENST00000504376.2_Missense_Mutation_p.A672P|CDH12_ENST00000522262.1_Missense_Mutation_p.A632P|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	672					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A672P(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGTCGAAAGCCTGGGTATCT	0.463000										HNSCC(59;0.17)			5	78					0	0	0.184627	0	0
TRIM25	7706	broad.mit.edu	37	17	54969240	54969240	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:54969240T>G	ENST00000316881.4	-	9	1763	c.1714A>C	c.(1714-1716)Acc>Ccc	p.T572P	TRIM25_ENST00000537230.1_Missense_Mutation_p.T572P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	572	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T572P(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GTGGCCTTGGTGGAGGGCAGG	0.572000													5	44					0	0	0.184627	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361660	105361660	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:105361660G>T	ENST00000297581.2	+	2	929	c.880G>T	c.(880-882)Ggg>Tgg	p.G294W	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	294					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.G294W(1)									GAAAAACCTGGGGCTGTTTTT	0.488000													8	164					0.0477658	0.0513204	0.307466	1	0
FNDC5	252995	broad.mit.edu	37	1	33333801	33333801	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:33333801G>T	ENST00000373471.3	-	3	465	c.174C>A	c.(172-174)tcC>tcA	p.S58S		NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	117	Fibronectin type-III.					integral to membrane|peroxisomal membrane		p.S58S(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTTTGTTCTTGGAGGCCATCT	0.602000													11	105					5.50884e-06	8.41628e-06	0.411799	1	0
ZNF578	147660	broad.mit.edu	37	19	53015127	53015127	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:53015127T>C	ENST00000421239.2	+	6	1737	c.1493T>C	c.(1492-1494)cTt>cCt	p.L498P	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L498P(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGGTCATCTCTTCCATGCCAT	0.398000													13	68					0	0	0.479597	0	0
ZNF568	374900	broad.mit.edu	37	19	37441368	37441368	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:37441368G>T	ENST00000415168.1	+	5	1497	c.1121G>T	c.(1120-1122)cGa>cTa	p.R374L	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.R438L|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R438Q(1)|p.R438L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTACATATGCGAAATCATACA	0.393000													12	65					0.00136819	0.00167756	0.411799	1	0
FLG	2312	broad.mit.edu	37	1	152280577	152280577	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:152280577G>T	ENST00000368799.1	-	3	6820	c.6785C>A	c.(6784-6786)tCt>tAt	p.S2262Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2262	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2262Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGACGCAGACCCAGACCG	0.582000									Ichthyosis				25	195					4.26978e-12	8.20564e-12	0.654019	1	0
CERS2	29956	broad.mit.edu	37	1	150940140	150940140	+	Splice_Site	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:150940140C>G	ENST00000271688.6	-	6	905	c.519_splice	c.e6+1	p.Q173_splice	CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Splice_Site_p.Q164_splice|CERS2_ENST00000368954.5_Splice_Site_p.Q173_splice	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	173	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.Q173H(1)									GAACTCATACCTGTATGGGAT	0.468000													28	175					0	0	0.740014	0	0
LRP4	4038	broad.mit.edu	37	11	46920180	46920180	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:46920180A>G	ENST00000378623.1	-	7	967	c.725T>C	c.(724-726)cTg>cCg	p.L242P		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	242	LDL-receptor class A 6.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.L242P(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATTGATGCACAGGCCACTGTC	0.577000													8	120					0	0	0.361761	0	0
PCDH15	65217	broad.mit.edu	37	10	56138580	56138580	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:56138580G>T	ENST00000373965.2	-	4	674	c.280C>A	c.(280-282)Ctt>Att	p.L94I	PCDH15_ENST00000395440.1_Missense_Mutation_p.L94I|PCDH15_ENST00000373957.3_Missense_Mutation_p.L72I|PCDH15_ENST00000373955.1_Missense_Mutation_p.L94I|PCDH15_ENST00000395433.1_Missense_Mutation_p.L72I|PCDH15_ENST00000395432.2_Missense_Mutation_p.L94I|PCDH15_ENST00000395438.1_Missense_Mutation_p.L94I|PCDH15_ENST00000437009.1_Missense_Mutation_p.L94I|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.L94I|PCDH15_ENST00000320301.6_Missense_Mutation_p.L94I|PCDH15_ENST00000395430.1_Missense_Mutation_p.L94I|PCDH15_ENST00000395442.1_Missense_Mutation_p.L94I|PCDH15_ENST00000361849.3_Missense_Mutation_p.L94I|PCDH15_ENST00000395446.1_Missense_Mutation_p.L94I|PCDH15_ENST00000414778.1_Missense_Mutation_p.L99I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	94	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.L94I(2)|p.L99I(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCAGGAAAAGCATTTGCTTA	0.388000										HNSCC(58;0.16)			5	94					0.0215528	0.0235957	0.217242	1	0
KIAA1683	80726	broad.mit.edu	37	19	18368671	18368671	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:18368671C>A	ENST00000392413.3	-	4	3638	c.3423G>T	c.(3421-3423)atG>atT	p.M1141I	KIAA1683_ENST00000600328.2_Missense_Mutation_p.M954I|KIAA1683_ENST00000600359.2_Missense_Mutation_p.M908I	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	1141	IQ 5.|IQ 6.					mitochondrion		p.M1141I(1)|p.M954I(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGGATGACCATGGCCCCCC	0.667000													10	63					7.03913e-09	1.24888e-08	0.411799	1	0
OR1N2	138882	broad.mit.edu	37	9	125315694	125315694	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:125315694C>A	ENST00000373688.2	+	1	304	c.246C>A	c.(244-246)aaC>aaA	p.N82K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N82K(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTCTGGCCAACCTGTCATTAA	0.502000													7	87					5.68852e-11	1.07182e-10	0.307466	1	0
ZNF543	125919	broad.mit.edu	37	19	57839243	57839243	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:57839243G>T	ENST00000321545.4	+	4	758	c.413G>T	c.(412-414)gGg>gTg	p.G138V		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G138V(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGAAAATAGGGATAGGCCCC	0.473000													7	39					0.307466	0.312608	0.307466	1	0
PROSC	11212	broad.mit.edu	37	8	37633507	37633507	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:37633507G>T	ENST00000328195.3	+	7	736	c.669G>T	c.(667-669)atG>atT	p.M223I		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	223							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	AGCTGAGCATGGGCATGTCCG	0.562000													5	80					0.000673444	0.000844547	0.361761	1	0
OR2G3	81469	broad.mit.edu	37	1	247768905	247768905	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:247768905G>T	ENST00000320002.2	+	1	50	c.18G>T	c.(16-18)gaG>gaT	p.E6D	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E6D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGGCAATGAGAGTTCCCTAA	0.463000													8	48					7.48243e-07	1.20365e-06	0.335167	1	0
PLXNB3	5365	broad.mit.edu	37	X	153041515	153041515	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:153041515G>T	ENST00000538966.1	+	28	4915	c.4644G>T	c.(4642-4644)ggG>ggT	p.G1548G	PLXNB3_ENST00000361971.5_Silent_p.G1525G|PLXNB3_ENST00000538776.1_Silent_p.G1178G	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1525					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	p.G1525G(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGCCCGGGGCTGGCGGGG	0.672000													4	1					0.150653	0.156761	0.150653	1	0
OSCP1	127700	broad.mit.edu	37	1	36884607	36884607	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:36884607G>T	ENST00000356637.5	-	10	1101	c.1038C>A	c.(1036-1038)aaC>aaA	p.N346K	OSCP1_ENST00000235532.5_Missense_Mutation_p.N336K|OSCP1_ENST00000433045.2_Missense_Mutation_p.N291K|OSCP1_ENST00000315643.9_Intron|OSCP1_ENST00000495222.1_Intron			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	346					transport	basal plasma membrane		p.N346K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TGGCTTGTATGTTGATAACTT	0.458000													22	130					1.64293e-13	3.22171e-13	0.654019	1	0
S100A7A	338324	broad.mit.edu	37	1	153390625	153390625	+	Missense_Mutation	SNP	C	C	T	rs146005479		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:153390625C>T	ENST00000368729.4	+	2	124	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	S100A7A_ENST00000368728.2_Missense_Mutation_p.R23C|S100A7A_ENST00000329256.2_Missense_Mutation_p.R23C	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	23	EF-hand 1.		R -> H (in dbSNP:rs55985140).			cytoplasm	calcium ion binding	p.R23C(1)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATACACCGGACGTGATGGCAA	0.458000													14	101					0	0	0.479597	0	0
PSME2	5721	broad.mit.edu	37	14	24612835	24612835	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:24612835C>A	ENST00000216802.5	-	10	1237	c.598G>T	c.(598-600)Ggg>Tgg	p.G200W	PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Missense_Mutation_p.G189W	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex		p.G200W(1)		endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CTGAGCTCCCCATAGGCTGCC	0.597000													15	75					4.75885e-15	9.41176e-15	0.520397	1	0
FOCAD	54914	broad.mit.edu	37	9	20820325	20820325	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:20820325G>T	ENST00000380249.1	+	15	1927	c.1563G>T	c.(1561-1563)gtG>gtT	p.V521V	FOCAD_ENST00000338382.6_Silent_p.V521V|FOCAD_ENST00000605086.1_5'UTR	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	521						integral to membrane	binding	p.V521V(1)									TTTTCTAGGTGTGTATAGGAC	0.383000													11	49					0.0135373	0.0154349	0.411799	1	0
KIAA1211	57482	broad.mit.edu	37	4	57181776	57181776	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:57181776G>A	ENST00000504228.1	+	6	2213	c.2108G>A	c.(2107-2109)tGt>tAt	p.C703Y	KIAA1211_ENST00000264229.6_Missense_Mutation_p.C703Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.C696Y			Q6ZU35	K1211_HUMAN	KIAA1211	703								p.C703Y(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGGGCCGGTGTGATTCCCGC	0.587000													7	54					0	0	0.278610	0	0
ZNF493	284443	broad.mit.edu	37	19	21607572	21607572	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:21607572A>T	ENST00000392288.2	+	4	2220	c.2111A>T	c.(2110-2112)aAg>aTg	p.K704M	ZNF493_ENST00000355504.4_Missense_Mutation_p.K576M|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K576M(1)|p.K704M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATACGCATAAGATAATTCAT	0.333000													4	27					0	0	0.150653	0	0
CTCFL	140690	broad.mit.edu	37	20	56098207	56098207	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:56098207A>T	ENST00000426658.2	-	2	1332	c.671T>A	c.(670-672)gTg>gAg	p.V224E	CTCFL_ENST00000422869.2_Missense_Mutation_p.V224E|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000371196.2_Missense_Mutation_p.V224E|CTCFL_ENST00000243914.3_Missense_Mutation_p.V224E|CTCFL_ENST00000433949.2_Missense_Mutation_p.V224E|CTCFL_ENST00000432255.2_Missense_Mutation_p.V224E|CTCFL_ENST00000539382.1_Missense_Mutation_p.V19E|CTCFL_ENST00000422109.2_Missense_Mutation_p.V224E|CTCFL_ENST00000423479.2_Missense_Mutation_p.V224E|CTCFL_ENST00000429804.2_Missense_Mutation_p.V224E			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	224					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.V224E(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTGTTCTTCCACATTTGAATT	0.393000													19	147					0	0	0.592651	0	0
MROH8	140699	broad.mit.edu	37	20	35748921	35748921	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:35748921C>G	ENST00000400441.3	-	17	2214	c.2215G>C	c.(2215-2217)Ggc>Cgc	p.G739R	MROH8_ENST00000217333.8_Missense_Mutation_p.G568R|MROH8_ENST00000441008.2_Missense_Mutation_p.G725R					maestro heat-like repeat family member 8									p.G739R(1)									ACAAAAAAGCCTGCAGATGTG	0.443000													4	12					0	0	0.248553	0	0
ATP5L	10632	broad.mit.edu	37	11	118279714	118279714	+	Splice_Site	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:118279714G>A	ENST00000300688.3	+	3	725		c.e3-1		ATP5L_ENST00000529770.1_Splice_Site|ATP5L_ENST00000524422.1_Intron	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G						ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		TCTTTTTTCAGGAAGCTGTGC	0.333000													6	23					0	0	0.217242	0	0
C1orf168	199920	broad.mit.edu	37	1	57252874	57252874	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:57252874C>A	ENST00000343433.6	-	4	1007	c.927G>T	c.(925-927)gtG>gtT	p.V309V	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	309								p.V309V(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGCCCTCTTCCACAGTCACTG	0.493000													5	64					0.184627	0.190397	0.184627	1	0
MMP19	4327	broad.mit.edu	37	12	56234451	56234451	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:56234451C>A	ENST00000322569.4	-	4	611	c.520_splice	c.e4+1	p.G174_splice	MMP19_ENST00000548629.1_Splice_Site_p.G151_splice|MMP19_ENST00000409200.3_Splice_Site_p.G174_splice	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	174					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G174W(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TGTTGCCTACCAGGCCCATCA	0.522000													8	73					2.17888e-05	3.19366e-05	0.335167	1	0
FBXO40	51725	broad.mit.edu	37	3	121341476	121341476	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:121341476C>A	ENST00000338040.4	+	3	1614	c.1200C>A	c.(1198-1200)ctC>ctA	p.L400L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	400					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.L400L(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGACCACCCTCCAGTGTGCTT	0.458000													7	58					8.12818e-05	0.000111763	0.248553	1	0
TFAP2B	7021	broad.mit.edu	37	6	50803869	50803869	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:50803869G>T	ENST00000263046.4	+	5	890	c.724G>T	c.(724-726)Gtc>Ttc	p.V242F	TFAP2B_ENST00000393655.3_Missense_Mutation_p.V233F			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	233					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.V233F(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GTTTTGCTCCGTCCCAGGCCG	0.512000													13	51					2.27111e-07	3.77429e-07	0.411799	1	0
GLYATL2	219970	broad.mit.edu	37	11	58604651	58604651	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:58604651C>A	ENST00000287275.1	-	5	704		c.e5-1		GLYATL2_ENST00000532258.1_Splice_Site|GLYATL2_ENST00000533636.1_Splice_Site	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2							mitochondrion	glycine N-acyltransferase activity	p.?(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCTTGGCAACCTGGAGAAAGG	0.403000													9	74					1.12685e-05	1.68808e-05	0.307466	1	0
RNF17	56163	broad.mit.edu	37	13	25362201	25362201	+	Silent	SNP	C	C	T	rs79685389		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:25362201C>T	ENST00000255324.5	+	7	739	c.687C>T	c.(685-687)taC>taT	p.Y229Y	RNF17_ENST00000381921.1_Silent_p.Y229Y|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Silent_p.Y230Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	229					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Y229Y(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTAAAAGCTACATTGAAGAGA	0.308000													5	66					0	0	0.184627	0	0
PROKR2	128674	broad.mit.edu	37	20	5283320	5283320	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:5283320A>T	ENST00000546004.1	-	3	767	c.521T>A	c.(520-522)aTc>aAc	p.I174N	PROKR2_ENST00000217270.3_Missense_Mutation_p.I174N			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	174						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.I174N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GACCAAGGCGATCAGGAAGGA	0.488000										HNSCC(71;0.22)			7	94					0	0	0.278610	0	0
SNX15	29907	broad.mit.edu	37	11	64795011	64795011	+	Translation_Start_Site	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:64795011T>C	ENST00000377244.3	+	1	132	c.2T>C	c.(1-3)aTg>aCg	p.M1T	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	1	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	p.M1T(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CTCGGTTTCATGTCCCGCCAG	0.701000											OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	41					0	0	0.248553	0	0
FCGR2A	2212	broad.mit.edu	37	1	161487915	161487915	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:161487915G>C	ENST00000271450.6	+	7	969	c.931G>C	c.(931-933)Gac>Cac	p.D311H	FCGR2A_ENST00000461298.1_Missense_Mutation_p.D46H|FCGR2A_ENST00000367972.4_Missense_Mutation_p.D310H|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	311						integral to membrane|plasma membrane	IgG binding|receptor activity	p.D310H(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCTCCCAACGACCATGTCAA	0.443000													5	52					0	0	0.217242	0	0
CENPP	401541	broad.mit.edu	37	9	95099903	95099903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:95099903G>T	ENST00000375587.3	+	3	885	c.370G>T	c.(370-372)Gaa>Taa	p.E124*		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	124					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		p.E124*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						TCAGATTCTGGAAATTCAGGT	0.363000													17	65					0.00074312	0.000930915	0.539581	1	0
GRID2	2895	broad.mit.edu	37	4	94411820	94411820	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:94411820C>A	ENST00000282020.4	+	12	2147	c.1889C>A	c.(1888-1890)aCc>aAc	p.T630N	GRID2_ENST00000510992.1_Missense_Mutation_p.T535N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	630					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.T630N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACTCTGGCTACCCGAATGATG	0.428000													7	56					0.00198382	0.00240179	0.248553	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45705137	45705137	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:45705137T>C	ENST00000310806.4	-	6	1686	c.1228A>G	c.(1228-1230)Aac>Gac	p.N410D		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	410					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.N410D(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CAATATATGTTAGTGACGTCT	0.308000													3	31					0	0	0.150653	0	0
IGHM	3507	broad.mit.edu	37	14	106320525	106320525	+	RNA	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:106320525C>A	ENST00000390559.2	-	0	1284																											GACTTGTCCACGGTCCTCTCG	0.627000													10	46					1.58986e-06	2.51547e-06	0.361761	1	0
IRGC	56269	broad.mit.edu	37	19	44223254	44223254	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:44223254C>T	ENST00000244314.5	+	2	743	c.544C>T	c.(544-546)Ccg>Tcg	p.P182S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	182						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.P182S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CACCCAGCGGCCGTCGGGCTT	0.682000													4	29					0	0	0.184627	0	0
FBXO38	81545	broad.mit.edu	37	5	147806775	147806775	+	Splice_Site	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:147806775G>C	ENST00000340253.5	+	15	2086		c.e15-1		FBXO38_ENST00000513826.1_Intron|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000394370.3_Splice_Site			Q6PIJ6	FBX38_HUMAN	F-box protein 38							cytoplasm|nucleus		p.?(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTATAAGCAGTAAGTGGAAA	0.423000													4	24					0	0	0.150653	0	0
POU4F2	5458	broad.mit.edu	37	4	147561855	147561855	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:147561855C>G	ENST00000281321.3	+	2	1373	c.1125C>G	c.(1123-1125)atC>atG	p.I375M		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	375					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.I375M(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CTGAAAAGATCGCCGCCATCG	0.577000													4	57					0	0	0.150653	0	0
DLEC1	9940	broad.mit.edu	37	3	38126766	38126766	+	Splice_Site	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:38126766G>T	ENST00000308059.6	+	8	1284	c.1261_splice	c.e8-1	p.G421_splice	DLEC1_ENST00000469151.1_Intron|DLEC1_ENST00000452631.2_Splice_Site_p.G421_splice|DLEC1_ENST00000346219.3_Splice_Site_p.G421_splice			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	421					negative regulation of cell proliferation	cytoplasm		p.G421V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATGCACAGGGATGTTCCCAG	0.537000													4	70					0.184627	0.190397	0.184627	1	0
PRRG1	5638	broad.mit.edu	37	X	37312649	37312649	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:37312649G>T	ENST00000542554.1	+	5	704	c.432G>T	c.(430-432)ttG>ttT	p.L144F	PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Missense_Mutation_p.L144F|PRRG1_ENST00000378628.4_Missense_Mutation_p.L144F|PRRG1_ENST00000543642.1_Missense_Mutation_p.L144F	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	144						extracellular region|integral to plasma membrane	calcium ion binding	p.L144F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						GCAGTGGATTGTCTCCAGGCT	0.532000													12	23					4.3838e-07	7.14145e-07	0.435327	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072913	17072913	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:17072913G>T	ENST00000359963.3	-	1	787	c.528C>A	c.(526-528)ccC>ccA	p.P176P		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	176					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.M177L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGTGGTCCATGGGGGACAGGG	0.617000													13	45					7.93312e-07	1.26732e-06	0.457914	1	0
UPP1	7378	broad.mit.edu	37	7	48142961	48142961	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:48142961G>T	ENST00000331803.4	+	7	1012	c.389G>T	c.(388-390)cGg>cTg	p.R130L	UPP1_ENST00000341253.4_Missense_Mutation_p.R130L|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000482015.1_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.R130L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	130					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	p.R130L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TACTATGCCCGGTGCTCCAAC	0.522000													12	74					0.000219431	0.000296425	0.457914	1	0
IST1	9798	broad.mit.edu	37	16	71954700	71954700	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:71954700A>T	ENST00000378799.6	+	5	772	c.416A>T	c.(415-417)aAc>aTc	p.N139I	IST1_ENST00000606369.1_Intron|IST1_ENST00000538850.1_5'UTR|IST1_ENST00000538565.1_Intron|IST1_ENST00000329908.8_Missense_Mutation_p.N139I|IST1_ENST00000535424.1_Missense_Mutation_p.N152I|IST1_ENST00000378798.5_Missense_Mutation_p.N139I|IST1_ENST00000541571.2_Missense_Mutation_p.N139I|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000544564.1_Missense_Mutation_p.N139I	NM_001270975.1	NP_001257904.1	P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	139	Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding	p.N139I(1)									TGTAGGACCAACCAGATTGGA	0.418000													4	34					0	0	0.150653	0	0
SLC38A9	153129	broad.mit.edu	37	5	54960597	54960597	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:54960597C>A	ENST00000539768.1	-	6	620	c.621G>T	c.(619-621)gtG>gtT	p.V207V	SLC38A9_ENST00000512595.1_Silent_p.V180V|SLC38A9_ENST00000396865.2_Silent_p.V207V|SLC38A9_ENST00000416547.2_Silent_p.V83V|SLC38A9_ENST00000515629.1_Silent_p.V144V|SLC38A9_ENST00000318672.3_Silent_p.V207V			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	207					amino acid transport|sodium ion transport	integral to membrane		p.V207V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CAATGAGAGACACCAAGGAGA	0.373000													8	29					0.00307968	0.00368986	0.278610	1	0
USHBP1	83878	broad.mit.edu	37	19	17366264	17366264	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:17366264C>T	ENST00000252597.3	-	10	1795	c.1622G>A	c.(1621-1623)gGt>gAt	p.G541D	USHBP1_ENST00000431146.2_Missense_Mutation_p.G477D	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	541							PDZ domain binding	p.G541D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GTTTGCCCCACCAGCCTGGAG	0.682000													7	73					0	0	0.248553	0	0
CCDC141	285025	broad.mit.edu	37	2	179742780	179742780	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:179742780C>A	ENST00000420890.2	-	12	1927	c.1810G>T	c.(1810-1812)Gac>Tac	p.D604Y	CCDC141_ENST00000409284.1_Missense_Mutation_p.D604Y|CCDC141_ENST00000295723.5_Missense_Mutation_p.D29Y	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	29							protein binding	p.D604Y(2)|p.D29Y(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCAGCCGAGTCAGAACAATGC	0.373000													17	42					2.23348e-06	3.48134e-06	0.500413	1	0
REG3G	130120	broad.mit.edu	37	2	79253237	79253237	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:79253237C>A	ENST00000272324.5	+	2	202	c.18C>A	c.(16-18)gcC>gcA	p.A6A	REG3G_ENST00000409471.1_Silent_p.A6A|REG3G_ENST00000393897.2_Silent_p.A6A	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	6					acute-phase response	extracellular region	sugar binding	p.A6A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCCCATGGCCCTGCCCAGTG	0.542000													4	18					0.150653	0.156761	0.150653	1	0
IGDCC4	57722	broad.mit.edu	37	15	65702597	65702597	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:65702597C>A	ENST00000352385.2	-	3	691	c.482G>T	c.(481-483)cGc>cTc	p.R161L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	161	Ig-like C2-type 2.					integral to membrane|plasma membrane		p.R161L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GCACTCAAAGCGAGCTGTCCC	0.582000													4	47					0.000602214	0.000761004	0.184627	1	0
PEG3	5178	broad.mit.edu	37	19	57327572	57327572	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:57327572G>T	ENST00000326441.9	-	10	2601	c.2238C>A	c.(2236-2238)gaC>gaA	p.D746E	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D746E|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D622E|PEG3_ENST00000593695.1_Missense_Mutation_p.D620E|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	746					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D746E(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACGCCTTTTCGTCCTCATCAC	0.408000													33	144					8.53417e-09	1.51181e-08	0.769981	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38689108	38689108	+	Silent	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:38689108C>G	ENST00000222345.6	+	19	5429	c.4920C>G	c.(4918-4920)ccC>ccG	p.P1640P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1640					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.P1640P(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCTGATGCCCCTGCCTGACA	0.692000													30	110					0	0	0.750413	0	0
SF3B5	83443	broad.mit.edu	37	6	144416503	144416503	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:144416503C>A	ENST00000367569.2	-	1	251	c.132G>T	c.(130-132)atG>atT	p.M44I		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	44					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex		p.M44I(1)		lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		CGAAGTGGCCCATGTAGGAGC	0.567000													5	54					0.014758	0.0164057	0.184627	1	0
PIGT	51604	broad.mit.edu	37	20	44048032	44048032	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:44048032C>T	ENST00000279036.6	+	4	671	c.591C>T	c.(589-591)tcC>tcT	p.S197S	PIGT_ENST00000545755.1_Intron|PIGT_ENST00000535404.1_Intron|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000279035.9_Silent_p.S95S|PIGT_ENST00000372689.5_Silent_p.S197S|PIGT_ENST00000543458.2_Silent_p.S141S	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	197					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	p.S197S(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCTGTAGTTCCAAGGTGAGGC	0.602000													4	37					0	0	0.150653	0	0
USP31	57478	broad.mit.edu	37	16	23080339	23080339	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:23080339G>C	ENST00000219689.7	-	16	3086	c.3087C>G	c.(3085-3087)tcC>tcG	p.S1029S	USP31_ENST00000567975.1_Silent_p.S322S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1029	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.S1029S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AAGTGCCTTTGGAACTGGGGG	0.542000													12	66					0	0	0.435327	0	0
DMRT3	58524	broad.mit.edu	37	9	990523	990523	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:990523A>G	ENST00000190165.2	+	2	975	c.937A>G	c.(937-939)Atc>Gtc	p.I313V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	313					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.I313V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CAATGGGCACATCTTTGAACA	0.562000													4	61					0	0	0.150653	0	0
RBM28	55131	broad.mit.edu	37	7	127970895	127970895	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:127970895T>C	ENST00000223073.1	-	10	1220	c.1106A>G	c.(1105-1107)cAt>cGt	p.H369R	RBM28_ENST00000415472.2_Missense_Mutation_p.H228R	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	369	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	p.H369R(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TGTGTCTGGATGCAAGACAAT	0.468000													4	58					0	0	0.150653	0	0
COG7	91949	broad.mit.edu	37	16	23436189	23436189	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:23436189C>A	ENST00000307149.5	-	7	1075	c.890G>T	c.(889-891)tGc>tTc	p.C297F		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	297					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.C297F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTTGCTGAGGCAGGAGGGCAG	0.637000													7	54					0.000157383	0.000213354	0.278610	1	0
B3GALNT1	8706	broad.mit.edu	37	3	160804474	160804474	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:160804474C>A	ENST00000392781.2	-	8	816	c.69G>T	c.(67-69)ctG>ctT	p.L23L	B3GALNT1_ENST00000320474.4_Silent_p.L23L|B3GALNT1_ENST00000392780.1_Silent_p.L23L|B3GALNT1_ENST00000473285.1_Silent_p.L23L|B3GALNT1_ENST00000392779.2_Silent_p.L23L|B3GALNT1_ENST00000488170.1_Silent_p.L23L|B3GALNT1_ENST00000417187.1_Silent_p.L23L	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	23					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.L23L(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			GTGACAGCAGCAGGAGGCTCC	0.532000													5	24					3.59834e-05	5.15003e-05	0.217242	1	0
MYLK	4638	broad.mit.edu	37	3	123419658	123419658	+	Missense_Mutation	SNP	G	G	C	rs140989388		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:123419658G>C	ENST00000360772.3	-	19	3035	c.2657C>G	c.(2656-2658)gCg>gGg	p.A886G	MYLK_ENST00000475616.1_Missense_Mutation_p.A886G|MYLK_ENST00000360304.3_Missense_Mutation_p.A886G|MYLK_ENST00000359169.1_Missense_Mutation_p.A886G|MYLK_ENST00000346322.5_Missense_Mutation_p.A817G			Q15746	MYLK_HUMAN	myosin light chain kinase	886	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.A886G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGGCGGATCGCCTCCTCAGT	0.622000													5	47					0	0	0.248553	0	0
OR5L2	26338	broad.mit.edu	37	11	55595294	55595294	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:55595294C>A	ENST00000378397.1	+	1	600	c.600C>A	c.(598-600)ttC>ttA	p.F200L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F200L(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACTGCTGTTCCTGGTGGCCA	0.448000										HNSCC(27;0.073)			14	157					1.49906e-05	2.21126e-05	0.457914	1	0
CPVL	54504	broad.mit.edu	37	7	29070193	29070193	+	Splice_Site	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:29070193C>G	ENST00000409850.1	-	16	1966	c.1320_splice	c.e16+1	p.Q440_splice	CPVL_ENST00000265394.5_Splice_Site_p.Q440_splice|CPVL_ENST00000396276.3_Splice_Site_p.Q440_splice			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	440					proteolysis		protein binding|serine-type carboxypeptidase activity	p.Q440H(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATCTTCCTACCTGATGGAAGT	0.473000													12	129					0	0	0.457914	0	0
GRM1	2911	broad.mit.edu	37	6	146720217	146720217	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:146720217G>T	ENST00000392299.2	+	8	2512	c.2042G>T	c.(2041-2043)cGt>cTt	p.R681L	GRM1_ENST00000507907.1_Missense_Mutation_p.R681L|GRM1_ENST00000492807.2_Missense_Mutation_p.R681L|GRM1_ENST00000361719.2_Missense_Mutation_p.R681L|GRM1_ENST00000282753.1_Missense_Mutation_p.R681L|GRM1_ENST00000355289.4_Missense_Mutation_p.R681L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	681					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R681L(2)|p.R681H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AAAACCAATCGTATTGCACGC	0.527000													29	123					7.38237e-10	1.35129e-09	0.706142	1	0
MMP7	4316	broad.mit.edu	37	11	102394117	102394117	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:102394117T>C	ENST00000260227.4	-	5	681	c.629A>G	c.(628-630)tAt>tGt	p.Y210C		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	210					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y210C(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		AGTTGCAGCATACAGGAAGTT	0.343000													4	55					0	0	0.184627	0	0
OR4N5	390437	broad.mit.edu	37	14	20612100	20612100	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:20612100T>A	ENST00000333629.1	+	1	206	c.206T>A	c.(205-207)cTg>cAg	p.L69Q		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L69Q(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTGGCCTTACTGGATGCATCC	0.473000													52	141					0	0	0.870114	0	0
NOTCH3	4854	broad.mit.edu	37	19	15273348	15273348	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:15273348C>A	ENST00000263388.2	-	32	5916	c.5841G>T	c.(5839-5841)gcG>gcT	p.A1947A		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1947					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.A1947A(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGTTCACAGCCGCAGCCCAGT	0.577000													3	21					0.004672	0.0054839	0.115264	1	0
FOXG1	2290	broad.mit.edu	37	14	29237013	29237013	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:29237013C>A	ENST00000382535.3	+	2	897	c.528C>A	c.(526-528)aaC>aaA	p.N176K	FOXG1_ENST00000313071.4_Missense_Mutation_p.N176K			P55316	FOXG1_HUMAN	forkhead box G1	176	Gly-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.N176K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		agaagaagAACGGCAAGTACG	0.667000													3	17					0.115264	0.121914	0.115264	1	0
GRIK4	2900	broad.mit.edu	37	11	120531062	120531062	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:120531062C>T	ENST00000527524.2	+	3	322	c.35C>T	c.(34-36)cCt>cTt	p.P12L	GRIK4_ENST00000438375.2_Missense_Mutation_p.P12L			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	12					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.P12L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GTGCTGCTTCCTGCGTGGCTC	0.632000											OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	51					0	0	0.248553	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121612652	121612652	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:121612652T>A	ENST00000393386.2	+	4	773	c.362T>A	c.(361-363)tTt>tAt	p.F121Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.F121Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	121	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.F121Y(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAAATGGTGTTTAAAGCAAGC	0.358000													11	61					0	0	0.361761	0	0
CDK18	5129	broad.mit.edu	37	1	205492412	205492412	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:205492412C>G	ENST00000360066.2	+	2	418	c.117C>G	c.(115-117)aaC>aaG	p.N39K	CDK18_ENST00000429964.2_Missense_Mutation_p.N39K|CDK18_ENST00000506784.1_Missense_Mutation_p.N39K|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	37							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	p.N39K(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						AGCTCCACAACCGGCGGAATG	0.597000													3	42					0	0	0.217242	0	0
GPR112	139378	broad.mit.edu	37	X	135431491	135431491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:135431491C>T	ENST00000394143.1	+	6	5917	c.5626C>T	c.(5626-5628)Caa>Taa	p.Q1876*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q1876*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q1813*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q1671*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q1671*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1876					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q1876K(1)|p.Q1876*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TAGTAATACCCAACCTCTGCT	0.433000													9	40					0	0	0.307466	0	0
MMP16	4325	broad.mit.edu	37	8	89128926	89128926	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:89128926G>T	ENST00000286614.6	-	6	1174	c.893C>A	c.(892-894)cCa>cAa	p.P298Q	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	298					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.P298Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCTTGTAGGTGGAGGAATCTT	0.502000													11	95					2.27111e-07	3.77429e-07	0.411799	1	0
C8orf37	157657	broad.mit.edu	37	8	96281405	96281405	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:96281405G>T	ENST00000286688.5	-	1	24	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	KB-1047C11.2_ENST00000521905.1_lincRNA	NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	5								p.L5M(1)		kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					AGCTCGTCCAGGTCCTCCGCC	0.622000											OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	184					2.17888e-05	3.19366e-05	0.335167	1	0
ASZ1	136991	broad.mit.edu	37	7	117067454	117067454	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:117067454C>T	ENST00000284629.2	-	1	123	c.61G>A	c.(61-63)Gag>Aag	p.E21K		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	21					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	p.E21K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CCATCATCCTCGCTCTCGCTA	0.672000											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	49					0	0	0.184627	0	0
EFR3A	23167	broad.mit.edu	37	8	132991151	132991151	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:132991151G>T	ENST00000254624.5	+	13	1609	c.1384G>T	c.(1384-1386)Gat>Tat	p.D462Y	EFR3A_ENST00000519656.1_Missense_Mutation_p.D426Y|EFR3A_ENST00000334503.4_Missense_Mutation_p.D462Y	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	462						plasma membrane	binding	p.D462Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GTCTTTCCTGGATCCTTTGTT	0.433000													12	68					0.0135373	0.0154349	0.411799	1	0
USH2A	7399	broad.mit.edu	37	1	215847618	215847618	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:215847618A>T	ENST00000366943.2	-	63	14021	c.13635T>A	c.(13633-13635)ccT>ccA	p.P4545P	USH2A_ENST00000307340.3_Silent_p.P4545P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4545	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P4545P(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATCTCCTGAGGACCCCTGG	0.473000										HNSCC(13;0.011)			14	94					0	0	0.435327	0	0
GALNT14	79623	broad.mit.edu	37	2	31215704	31215704	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:31215704C>A	ENST00000349752.5	-	2	938	c.299_splice	c.e2+1	p.R100_splice	GALNT14_ENST00000356174.3_Splice_Site_p.S100_splice|GALNT14_ENST00000406653.1_Splice_Site_p.R80_splice|GALNT14_ENST00000420311.2_Splice_Site_p.R65_splice|GALNT14_ENST00000324589.5_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	100						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R100I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GAGGAAGTACCTCAGATGGCG	0.567000													15	65					6.94344e-10	1.27296e-09	0.539581	1	0
RASAL1	8437	broad.mit.edu	37	12	113553489	113553489	+	Silent	SNP	C	C	T	rs137930457	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:113553489C>T	ENST00000546530.1	-	11	1239	c.954G>A	c.(952-954)ctG>ctA	p.L318L	RASAL1_ENST00000548055.1_Silent_p.L318L|RASAL1_ENST00000446861.3_Silent_p.L318L|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Silent_p.L318L	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	318	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.L318L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCGCCCAGCCAGTCCCCGGC	0.627000													4	16					0	0	0.150653	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873563	20873563	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:20873563C>G	ENST00000324344.3	-	2	583	c.298G>C	c.(298-300)Gat>Cat	p.D100H	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.D100H|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	100	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		p.D100H(1)		NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		TCCCGCTCATCCTTGTAGCGC	0.532000													15	132					0	0	0.500413	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838067	92838067	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:92838067A>T	ENST00000394468.2	-	4	915	c.838T>A	c.(838-840)Tac>Aac	p.Y280N	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.Y268N|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.Y303N|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.Y268N	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	280	Ig-like C2-type 2.					integral to membrane		p.Y280N(1)|p.Y268N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						ATCCAGGAGTAGGTGTTGGGG	0.438000													16	47					0	0	0.479597	0	0
NOTCH3	4854	broad.mit.edu	37	19	15298035	15298035	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:15298035T>C	ENST00000263388.2	-	11	1796	c.1721A>G	c.(1720-1722)tAc>tGc	p.Y574C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	574	EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.Y574C(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGTGCCCGTGTAGCCAGGAGC	0.642000													3	29					0	0	0.115264	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386537	56386537	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:56386537C>A	ENST00000355701.3	-	22	4966	c.4096G>T	c.(4096-4098)Ggg>Tgg	p.G1366W	BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1366W|BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1306W	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1366						mitochondrion	benzodiazepine receptor binding	p.G1366W(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCCCAGCCCCAGCAATGCA	0.632000													4	69					0.000602214	0.000761004	0.184627	1	0
MMP10	4319	broad.mit.edu	37	11	102649462	102649462	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:102649462G>A	ENST00000279441.4	-	4	551	c.515C>T	c.(514-516)tCt>tTt	p.S172F		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	172					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S172F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		GCCATCAAAAGAGTAAAAGTC	0.378000													3	38					0	0	0.115264	0	0
CEACAM20	125931	broad.mit.edu	37	19	45015707	45015707	+	RNA	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:45015707C>T	ENST00000454753.1	-	0	1878							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane		p.E532E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CATAGGTCTCCTCTGGAAGGT	0.443000													5	12					0	0	0.184627	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801092	44801092	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:44801092G>T	ENST00000309315.4	+	10	1408	c.1285G>T	c.(1285-1287)Gat>Tat	p.D429Y	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.D397Y|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.D429Y|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.D403Y|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.D371Y	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	429					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.D429Y(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCTGTGCGCGATGGGGTGGT	0.612000													11	38					5.16669e-11	9.75085e-11	0.387290	1	0
SPERT	220082	broad.mit.edu	37	13	46276958	46276958	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:46276958C>G	ENST00000310521.1	+	2	204	c.124C>G	c.(124-126)Cta>Gta	p.L42V		NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	42						cytoplasmic membrane-bounded vesicle		p.L42V(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ATCTGAAAGCCTAGAAATTCC	0.438000													6	38					0	0	0.217242	0	0
UMOD	7369	broad.mit.edu	37	16	20357478	20357478	+	Silent	SNP	G	G	T	rs143764582		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:20357478G>T	ENST00000396134.2	-	6	1374	c.1251C>A	c.(1249-1251)gcC>gcA	p.A417A	UMOD_ENST00000302509.4_Silent_p.A384A|UMOD_ENST00000424589.1_Silent_p.A417A|UMOD_ENST00000396138.4_Silent_p.A433A|UMOD_ENST00000396142.2_Silent_p.A384A|UMOD_ENST00000570689.1_Silent_p.A384A	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	384	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.A384A(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCCATCCCGGGCTGGGGTCA	0.587000													3	26					0.004672	0.0054839	0.115264	1	0
NUP205	23165	broad.mit.edu	37	7	135290944	135290944	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:135290944G>T	ENST00000285968.6	+	20	2901	c.2875G>T	c.(2875-2877)Gat>Tat	p.D959Y		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	959					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.D959Y(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGATTGTGAAGATGCAGAAGA	0.323000													9	94					6.40141e-05	8.96198e-05	0.387290	1	0
LPPR4	9890	broad.mit.edu	37	1	99772549	99772549	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:99772549C>A	ENST00000370185.3	+	7	2772	c.2275C>A	c.(2275-2277)Cgg>Agg	p.R759R	LPPR4_ENST00000370184.1_Silent_p.R601R|LPPR4_ENST00000457765.1_Silent_p.R701R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		759							phosphatidate phosphatase activity	p.R759R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTCCCCCACACGGGCTTATAA	0.458000													18	43					8.00594e-06	1.22151e-05	0.557998	1	0
LILRB4	11006	broad.mit.edu	37	19	55175015	55175015	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:55175015C>A	ENST00000391736.1	+	4	375	c.60C>A	c.(58-60)caC>caA	p.H20Q	LILRB4_ENST00000391733.3_Missense_Mutation_p.H20Q|LILRB4_ENST00000391734.3_Missense_Mutation_p.H20Q|LILRB4_ENST00000430952.2_Missense_Mutation_p.H20Q|LILRB4_ENST00000270452.2_Missense_Mutation_p.H20Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	20			H -> D (in dbSNP:rs11540762).			integral to membrane|plasma membrane	antigen binding|receptor activity	p.H20Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCAGGACCCACATGCAGGCAG	0.607000													13	50					7.93312e-07	1.26732e-06	0.457914	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70744807	70744807	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:70744807C>A	ENST00000260126.3	-	2	808	c.102G>T	c.(100-102)agG>agT	p.R34S	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R34S|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R34S|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	34						integral to membrane|plasma membrane	transporter activity	p.R34S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AACTCTTAGACCTGAGGGTCT	0.652000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	82					0.014758	0.0164057	0.184627	1	0
VWA8	23078	broad.mit.edu	37	13	42263515	42263515	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:42263515A>C	ENST00000379310.3	-	34	4174	c.4106T>G	c.(4105-4107)aTa>aGa	p.I1369R		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8									p.I1369R(1)									ACCAACAACTATTGTAGCATA	0.358000													6	27					0	0	0.217242	0	0
POLR2M	81488	broad.mit.edu	37	15	58001046	58001046	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:58001046A>T	ENST00000299638.3	+	2	462	c.248A>T	c.(247-249)aAg>aTg	p.K83M	POLR2M_ENST00000380563.2_Missense_Mutation_p.K83M|GCOM1_ENST00000587652.1_Missense_Mutation_p.K480M|GCOM1_ENST00000484300.1_Intron|POLR2M_ENST00000464308.1_3'UTR|GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000380557.4_Intron|GCOM1_ENST00000380568.3_Intron	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M									p.K83M(1)									TTAGACTGTAAGCTAAGGCAA	0.398000													7	51					0	0	0.248553	0	0
CCDC73	493860	broad.mit.edu	37	11	32636435	32636435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:32636435G>A	ENST00000335185.5	-	16	1472	c.1429C>T	c.(1429-1431)Cag>Tag	p.Q477*		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	477								p.Q477*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTTCATCCTGAGAAACAACA	0.328000													3	51					0	0	0.115264	0	0
PSMB9	5698	broad.mit.edu	37	6	32827219	32827219	+	Silent	SNP	G	G	C	rs145965388		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:32827219G>C	ENST00000395330.1	+	6	649	c.501G>C	c.(499-501)ggG>ggC	p.G167G	PSMB9_ENST00000374859.2_Silent_p.G190G			P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	190					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	p.G190G(1)		large_intestine(4)|lung(4)|skin(1)	9						GCTCAAGCGGGGGTGTCATCT	0.502000													38	164					0	0	0.827153	0	0
CCDC27	148870	broad.mit.edu	37	1	3669132	3669132	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:3669132C>A	ENST00000294600.2	+	1	171	c.87C>A	c.(85-87)tcC>tcA	p.S29S		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	29								p.S29S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CATTCAGGTCCACATTCAGGC	0.567000													13	50					0.000308642	0.00040326	0.479597	1	0
DUSP22	56940	broad.mit.edu	37	6	348191	348191	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:348191G>T	ENST00000604971.1	+	3	1156	c.43G>T	c.(43-45)Gtg>Ttg	p.V15L	DUSP22_ENST00000419235.2_Missense_Mutation_p.V118L|DUSP22_ENST00000605035.1_Missense_Mutation_p.V15L|DUSP22_ENST00000605315.1_Missense_Mutation_p.V15L|DUSP22_ENST00000344450.5_Missense_Mutation_p.V118L|DUSP22_ENST00000605863.1_Missense_Mutation_p.V15L|DUSP22_ENST00000603453.1_Missense_Mutation_p.V15L			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	118					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V118L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CCTGCACACCGTGCGTGCTGG	0.597000													7	127					8.12818e-05	0.000111763	0.248553	1	0
REG1B	5968	broad.mit.edu	37	2	79314050	79314050	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:79314050T>G	ENST00000305089.3	-	3	151	c.71A>C	c.(70-72)gAg>gCg	p.E24A		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	24					cell proliferation	extracellular region	sugar binding	p.E24A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TGTCTGGGACTCCTGGCCTGG	0.488000													5	66					0	0	0.184627	0	0
KCNT2	343450	broad.mit.edu	37	1	196395110	196395110	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:196395110A>T	ENST00000367433.5	-	11	1094	c.993T>A	c.(991-993)taT>taA	p.Y331*	KCNT2_ENST00000294725.8_Nonsense_Mutation_p.Y331*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.Y331*|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	331						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.Y331*(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAATCACCACATAATAATCCT	0.338000													4	35					0	0	0.150653	0	0
CD1B	910	broad.mit.edu	37	1	158299213	158299213	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:158299213G>T	ENST00000368168.3	-	4	940	c.833C>A	c.(832-834)tCc>tAc	p.S278Y		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	278	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.S278Y(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CACCCGACAGGACAGGCCAGC	0.567000													9	48					0.010729	0.0122815	0.387290	1	0
KIRREL3	84623	broad.mit.edu	37	11	126319004	126319004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:126319004G>T	ENST00000525144.2	-	8	1146	c.897C>A	c.(895-897)taC>taA	p.Y299*	KIRREL3_ENST00000525704.2_Nonsense_Mutation_p.Y299*|KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.Y299*	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	299	Ig-like C2-type 3.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.Y299*(2)|p.Y258*(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTGTGGTCCTGTACACCTCTC	0.607000													8	73					2.17888e-05	3.19366e-05	0.335167	1	0
ANKS4B	257629	broad.mit.edu	37	16	21245167	21245167	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:21245167C>G	ENST00000311620.5	+	1	182	c.109C>G	c.(109-111)Ctc>Gtc	p.L37V		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	37								p.L37V(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GACTCCTACTCTCTTGGCAGC	0.463000													3	68					0	0	0.150653	0	0
TRPM6	140803	broad.mit.edu	37	9	77397635	77397635	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:77397635G>T	ENST00000451710.3	-	22	3291	c.3054C>A	c.(3052-3054)taC>taA	p.Y1018*	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Y1018*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Y1018*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Y1013*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Y1013*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1018					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Y1018*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATATCATCCAGTATGGCTCAA	0.443000													8	52					1.12685e-05	1.68808e-05	0.307466	1	0
MLLT3	4300	broad.mit.edu	37	9	20414102	20414102	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:20414102C>T	ENST00000380338.4	-	5	1028	c.742G>A	c.(742-744)Gtt>Att	p.V248I	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.V245I|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.V248I(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ATCTTAGGAACTATTTTCTCT	0.398000			T	MLL	ALL								23	215					0	0	0.624587	0	0
LRP12	29967	broad.mit.edu	37	8	105503207	105503207	+	Silent	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:105503207T>C	ENST00000276654.5	-	7	2382	c.2274A>G	c.(2272-2274)agA>agG	p.R758R	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Silent_p.R739R	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	758					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.R758R(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TATCAAGTTGTCTCAAAGGAC	0.423000													5	68					0	0	0.184627	0	0
RYR3	6263	broad.mit.edu	37	15	33990137	33990137	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:33990137G>T	ENST00000389232.4	+	40	6259	c.6189G>T	c.(6187-6189)ctG>ctT	p.L2063L	RYR3_ENST00000415757.3_Silent_p.L2063L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2063	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L2063L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAGAGTCCTGGGCATGCACG	0.458000													8	45					3.09899e-07	5.07706e-07	0.307466	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51919589	51919589	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:51919589G>A	ENST00000353836.5	-	4	950	c.729C>T	c.(727-729)atC>atT	p.I243I	SIGLEC10_ENST00000356298.5_Silent_p.I243I|SIGLEC10_ENST00000432469.2_Silent_p.I160I|SIGLEC10_ENST00000442846.3_Silent_p.I185I|SIGLEC10_ENST00000339313.5_Silent_p.I243I|SIGLEC10_ENST00000441969.3_Silent_p.I185I|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000436984.2_Silent_p.I195I|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000525998.1_Silent_p.I243I|SIGLEC10_ENST00000439889.2_Silent_p.I185I	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	243					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.I185I(1)|p.I243I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GTGAAATGCTGATAACAAGGT	0.532000													18	85					0	0	0.592651	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581670	140581670	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140581670C>A	ENST00000354757.3	+	1	2323	c.2323C>A	c.(2323-2325)Cag>Aag	p.Q775K	PCDHB11_ENST00000536699.1_Missense_Mutation_p.Q410K	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		775					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Q775K(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTAATATCCAGGCAAAAGG	0.418000													7	47					8.12818e-05	0.000111763	0.248553	1	0
PCDH17	27253	broad.mit.edu	37	13	58240955	58240955	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:58240955C>A	ENST00000377918.3	+	3	2811	c.2785C>A	c.(2785-2787)Cca>Aca	p.P929T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	929					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P929T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TAAAAGCCAACCACTTGAACA	0.408000													4	23					0.150653	0.156761	0.150653	1	0
SPEG	10290	broad.mit.edu	37	2	220350089	220350089	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:220350089G>T	ENST00000312358.7	+	31	7763	c.7631G>T	c.(7630-7632)cGg>cTg	p.R2544L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2544					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R2544L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCCGAAGCCGGCTCCGCTGG	0.622000													7	75					0.000157383	0.000213354	0.278610	1	0
STRN3	29966	broad.mit.edu	37	14	31416470	31416470	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:31416470C>A	ENST00000355683.5	-	5	758		c.e5-1		STRN3_ENST00000357479.5_Splice_Site	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3						negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.?(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGAAGATACCTGTAAGAGAA	0.328000													14	47					2.23348e-06	3.48134e-06	0.500413	1	0
PAX3	5077	broad.mit.edu	37	2	223158477	223158477	+	Splice_Site	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:223158477C>A	ENST00000258387.5	-	5	836		c.e5-1		PAX3_ENST00000344493.4_Intron|PAX3_ENST00000392069.2_Intron|PAX3_ENST00000409828.3_3'UTR|PAX3_ENST00000392070.2_Intron|PAX3_ENST00000350526.4_Intron|PAX3_ENST00000409551.3_Intron|PAX3_ENST00000336840.6_Intron	NM_013942.4	NP_039230.1	P23760	PAX3_HUMAN	paired box 3						apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGCCTTTCCTGAGGGCATA	0.502000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						22	85					9.57634e-11	1.79848e-10	0.654019	1	0
PPFIA1	8500	broad.mit.edu	37	11	70171046	70171046	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:70171046G>T	ENST00000253925.7	+	4	675	c.460G>T	c.(460-462)Gtg>Ttg	p.V154L	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.V154L|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	154					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.V154L(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCCAGCAGGCGTGTCCAGCGA	0.498000													6	101					0.00198382	0.00240179	0.248553	1	0
KCNA2	3737	broad.mit.edu	37	1	111145926	111145926	+	Silent	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:111145926G>C	ENST00000485317.1	-	3	2152	c.1479C>G	c.(1477-1479)acC>acG	p.T493T	KCNA2_ENST00000316361.4_Silent_p.T493T|KCNA2_ENST00000440270.1_Silent_p.T493T|KCNA2_ENST00000369770.3_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	493						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.T493T(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		TTAACATTTTGGTAATATTCA	0.383000													13	72					0	0	0.411799	0	0
KCNMB2	10242	broad.mit.edu	37	3	178546087	178546087	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:178546087T>A	ENST00000432997.1	+	4	701	c.349T>A	c.(349-351)Tac>Aac	p.Y117N	KCNMB2_ENST00000358316.3_Missense_Mutation_p.Y117N|KCNMB2_ENST00000420517.2_Missense_Mutation_p.Y117N|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.Y117N|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	117					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	p.Y117N(1)		NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			CCTCCAGGTGTACGTTAACCT	0.473000													7	32					0	0	0.248553	0	0
SCN4A	6329	broad.mit.edu	37	17	62020273	62020273	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:62020273C>T	ENST00000578147.1	-	23	4277	c.4201G>A	c.(4201-4203)Gtg>Atg	p.V1401M	SCN4A_ENST00000435607.1_Missense_Mutation_p.V1401M			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1401					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1401M(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATCTTGAGCACGCACTCCCCT	0.542000													7	47					0	0	0.278610	0	0
QRICH2	84074	broad.mit.edu	37	17	74288492	74288492	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:74288492G>T	ENST00000262765.5	-	4	1997	c.1818C>A	c.(1816-1818)gtC>gtA	p.V606V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	606	Gln-rich.						protein binding	p.V606V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTCCAGGTTGGACCAAACCAT	0.537000													7	38					0.00307968	0.00368986	0.278610	1	0
INTS6	26512	broad.mit.edu	37	13	51942033	51942033	+	Splice_Site	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:51942033T>C	ENST00000311234.4	-	17	2950	c.2476_splice	c.e17-1	p.K826_splice	INTS6_ENST00000425000.1_Splice_Site_p.K394_splice|INTS6_ENST00000497989.1_Splice_Site_p.K648_splice|INTS6_ENST00000398119.2_Splice_Site_p.K813_splice|INTS6_ENST00000463928.1_3'UTR|INTS6_ENST00000490542.1_Splice_Site_p.K510_splice	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	826					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	p.K826K(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TTCTTTCATATTCTTAAAGCA	0.264000													4	20					0	0	0.150653	0	0
RNF215	200312	broad.mit.edu	37	22	30782716	30782716	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr22:30782716T>A	ENST00000382363.3	-	2	392	c.318A>T	c.(316-318)ccA>ccT	p.P106P		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	106						integral to membrane	zinc ion binding	p.P106P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						AGCCTTCCACTGGTGCCTCCT	0.642000													9	42					0	0	0.387290	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961230	73961230	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:73961230A>T	ENST00000373468.1	-	3	3813	c.3162T>A	c.(3160-3162)gaT>gaA	p.D1054E	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D1054E			Q5QGS0	K2022_HUMAN	KIAA2022	1054					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.D1054E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGTTGGATATATCCAGGAGGT	0.498000													4	41					0	0	0.150653	0	0
LRP1B	53353	broad.mit.edu	37	2	141607683	141607683	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:141607683C>G	ENST00000389484.3	-	29	5898	c.4927G>C	c.(4927-4929)Gtt>Ctt	p.V1643L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1643					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V1643L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTGAAATAACAGTTTCTAAC	0.299000										TSP Lung(27;0.18)			3	74					0	0	0.150653	0	0
PROS1	5627	broad.mit.edu	37	3	93624698	93624698	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:93624698A>G	ENST00000394236.3	-	6	847	c.531T>C	c.(529-531)aaT>aaC	p.N177N	PROS1_ENST00000407433.1_Silent_p.N46N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	177	EGF-like 2; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.N177N(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCCAGGTGTATTATCACAAA	0.289000													7	69					0	0	0.278610	0	0
TMEM57	55219	broad.mit.edu	37	1	25824847	25824847	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:25824847G>A	ENST00000374343.4	+	11	2064	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T	TMEM57_ENST00000399763.3_Missense_Mutation_p.A271T|TMEM57_ENST00000399766.3_Missense_Mutation_p.A402T	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	629						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		p.A629T(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ATACAGTGCCGCCACCAGCCC	0.522000													4	57					0	0	0.184627	0	0
ZAN	7455	broad.mit.edu	37	7	100352909	100352909	+	RNA	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:100352909C>A	ENST00000542585.1	+	0	3333				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P1062H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCAAGAGCCCCAGGCCTAGC	0.567000													8	122					0.000157383	0.000213354	0.278610	1	0
LCE2C	353140	broad.mit.edu	37	1	152648701	152648701	+	Silent	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:152648701C>A	ENST00000368783.1	+	2	265	c.210C>A	c.(208-210)ggC>ggA	p.G70G	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	70	Cys-rich.				keratinization			p.G70G(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGCTGGTGGCTGCTCCCTGA	0.667000													17	93					1.02788e-11	1.95909e-11	0.520397	1	0
OR5P3	120066	broad.mit.edu	37	11	7847205	7847205	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:7847205C>T	ENST00000328375.1	-	1	314	c.315G>A	c.(313-315)gtG>gtA	p.V105V	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V105V(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACCAAACGTCACTACAGAAC	0.552000													4	73					0	0	0.184627	0	0
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:189068316C>A	ENST00000332517.3	+	6	1337	c.1197C>A	c.(1195-1197)caC>caA	p.H399Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.H399Q(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488000													8	64					0.00307968	0.00368986	0.278610	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736260	140736260	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:140736260G>T	ENST00000571252.1	+	1	1493	c.1493G>T	c.(1492-1494)gGt>gTt	p.G498V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTTCCAGGGTGCACCTCTG	0.517000													16	86					3.52763e-06	5.46168e-06	0.520397	1	0
PLP1	5354	broad.mit.edu	37	X	103041621	103041621	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:103041621A>G	ENST00000418604.1	+	4	699	c.419A>G	c.(418-420)cAt>cGt	p.H140R	PLP1_ENST00000361621.2_Intron|PLP1_ENST00000303958.2_Missense_Mutation_p.H140R	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	140			H -> Y (in SPG2).|Missing (in HLD1).	H -> T (in Ref. 7; AAA60117).	cell death|synaptic transmission	integral to membrane		p.H140R(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CGGGTGTGTCATTGTTTGGGA	0.557000													8	59					0	0	0.307466	0	0
FZD7	8324	broad.mit.edu	37	2	202899448	202899448	+	Silent	SNP	G	G	C	rs35732430	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:202899448G>C	ENST00000286201.1	+	1	139	c.78G>C	c.(76-78)ctG>ctC	p.L26L		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	26					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.L26L(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TGGGCGCACTGTCCGCGGGCG	0.741000													13	26					0	0	0.457914	0	0
PSG2	5670	broad.mit.edu	37	19	43575948	43575948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:43575948G>A	ENST00000406487.1	-	4	966	c.868C>T	c.(868-870)Caa>Taa	p.Q290*		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	290	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.Q290*(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTAGTAATTTGGGGGATAAAC	0.458000													34	164					0	0	0.788014	0	0
TPTE	7179	broad.mit.edu	37	21	10933919	10933919	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr21:10933919C>A	ENST00000298232.7	-	16	1273	c.906G>T	c.(904-906)aaG>aaT	p.K302N	TPTE_ENST00000342420.5_Missense_Mutation_p.K282N|TPTE_ENST00000361285.4_Missense_Mutation_p.K320N|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	320	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K320N(1)|p.K302N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATTTACTTCCTTGGTGAAAA	0.338000													24	297					3.73988e-18	7.53851e-18	0.706142	1	0
OR4C16	219428	broad.mit.edu	37	11	55340095	55340095	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:55340095G>T	ENST00000314634.3	+	1	492	c.492G>T	c.(490-492)ttG>ttT	p.L164F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L164F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CCCTGAGTTTGCCATTCTGTG	0.478000													11	96					5.50884e-06	8.41628e-06	0.411799	1	0
CERS4	79603	broad.mit.edu	37	19	8321907	8321907	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:8321907G>A	ENST00000558331.1	+	9	993	c.534G>A	c.(532-534)ctG>ctA	p.L178L	CERS4_ENST00000559450.1_Silent_p.L229L|CERS4_ENST00000559336.1_Silent_p.L229L|CERS4_ENST00000251363.5_Silent_p.L229L|CERS4_ENST00000595722.1_3'UTR			Q9HA82	CERS4_HUMAN	ceramide synthase 4	229	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.L229L(1)									CCAACCTGCTGCGCATTGGCT	0.587000													41	189					0	0	0.859065	0	0
CDH10	1008	broad.mit.edu	37	5	24487989	24487989	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:24487989C>A	ENST00000264463.4	-	12	2657	c.2150G>T	c.(2149-2151)aGg>aTg	p.R717M	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	717					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R717M(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTTTTAGCCTTTCATTAAT	0.458000										HNSCC(23;0.051)			7	46					1.6384e-10	3.03748e-10	0.248553	1	0
IL15RA	3601	broad.mit.edu	37	10	6001727	6001727	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:6001727G>T	ENST00000525219.2	-	5	792	c.498C>A	c.(496-498)agC>agA	p.S166R	IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000379977.3_Missense_Mutation_p.S202R|IL15RA_ENST00000397248.2_Missense_Mutation_p.S166R|IL15RA_ENST00000397255.3_Missense_Mutation_p.S202R|IL15RA_ENST00000530685.1_Missense_Mutation_p.S169R|IL15RA_ENST00000528354.1_Missense_Mutation_p.S169R|IL15RA_ENST00000397251.3_Missense_Mutation_p.S137R|IL15RA_ENST00000379971.1_Missense_Mutation_p.S104R|IL15RA_ENST00000397250.2_Missense_Mutation_p.S104R	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	202					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	p.S202R(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CAGTGGTGTCGCTGTGGCCCT	0.577000													3	20					0.004672	0.0054839	0.115264	1	0
RGS7	6000	broad.mit.edu	37	1	240975309	240975309	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:240975309C>A	ENST00000366565.1	-	14	1372	c.991G>T	c.(991-993)Ggt>Tgt	p.G331C	RGS7_ENST00000446183.2_Missense_Mutation_p.G247C|RGS7_ENST00000366564.1_Missense_Mutation_p.G331C|RGS7_ENST00000366563.1_Missense_Mutation_p.G331C|RGS7_ENST00000401882.1_Missense_Mutation_p.G278C|RGS7_ENST00000331110.7_Missense_Mutation_p.G305C|RGS7_ENST00000407727.1_Missense_Mutation_p.G331C|RGS7_ENST00000366562.4_Missense_Mutation_p.G331C|RGS7_ENST00000348120.2_Missense_Mutation_p.G278C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	331					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.G331F(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ATGCCAAAACCCCATCGTTTT	0.383000													8	78					3.09899e-07	5.07706e-07	0.307466	1	0
OR2T3	343173	broad.mit.edu	37	1	248637465	248637465	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248637465A>T	ENST00000359594.2	+	1	839	c.814A>T	c.(814-816)Aca>Tca	p.T272S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T272S(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCTACCACACAGCTGAGCA	0.542000													12	200					0	0	0.500413	0	0
OR5D18	219438	broad.mit.edu	37	11	55587887	55587887	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:55587887G>T	ENST00000333976.4	+	1	802	c.782G>T	c.(781-783)tGt>tTt	p.C261F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C261F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTCCTTTACTGTGTGCCCAAC	0.532000													3	30					0.115264	0.121914	0.115264	1	0
ARMC1	55156	broad.mit.edu	37	8	66517566	66517566	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:66517566C>A	ENST00000276569.3	-	6	833	c.589G>T	c.(589-591)Gca>Tca	p.A197S	ARMC1_ENST00000458464.2_Missense_Mutation_p.A95S	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	197					metal ion transport		metal ion binding	p.A197S(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ATTGCTGATGCCAAAGCCTAA	0.333000													11	42					7.03913e-09	1.24888e-08	0.411799	1	0
OC90	729330	broad.mit.edu	37	8	133053387	133053387	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:133053387G>T	ENST00000262283.5	-	9	1048	c.949C>A	c.(949-951)Cgc>Agc	p.R317S	OC90_ENST00000443356.2_Missense_Mutation_p.R121S|OC90_ENST00000254627.3_Missense_Mutation_p.R121S|OC90_ENST00000603859.1_Missense_Mutation_p.R121S			Q02509	OC90_HUMAN	otoconin 90	121					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.R127S(1)|p.R317S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TAGCACCTGCGGTGCTGGAAG	0.552000													8	98					0.00307968	0.00368986	0.278610	1	0
GRIA2	2891	broad.mit.edu	37	4	158224837	158224837	+	Silent	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:158224837A>T	ENST00000296526.7	+	3	688	c.363A>T	c.(361-363)acA>acT	p.T121T	GRIA2_ENST00000264426.9_Silent_p.T121T|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000449365.1_Silent_p.T74T|GRIA2_ENST00000507898.1_Silent_p.T74T|GRIA2_ENST00000393815.2_Silent_p.T74T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	121					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.T121T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CAGATGGCACACATCCATTTG	0.428000													4	69					0	0	0.217242	0	0
SPTLC1	10558	broad.mit.edu	37	9	94821469	94821469	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:94821469C>T	ENST00000262554.2	-	7	687	c.682G>A	c.(682-684)Gat>Aat	p.D228N	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	228						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.D228N(1)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACCTTTTGATCTTCGATCTCT	0.328000													4	19					0	0	0.150653	0	0
OR4D2	124538	broad.mit.edu	37	17	56247135	56247135	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:56247135T>C	ENST00000545221.1	+	1	119	c.119T>C	c.(118-120)aTg>aCg	p.M40T		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M40T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACCACTGTTATGGGAAACATC	0.498000													22	98					0	0	0.608945	0	0
ACTN2	88	broad.mit.edu	37	1	236924413	236924413	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:236924413G>T	ENST00000366578.4	+	20	2632	c.2466G>T	c.(2464-2466)acG>acT	p.T822T	ACTN2_ENST00000542672.1_Silent_p.T822T|ACTN2_ENST00000546208.1_Silent_p.T316T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	822	EF-hand 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.T822T(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTAGAGAGACGGCTGACACCG	0.542000													10	51					0.000151284	0.000207276	0.435327	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77396106	77396106	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:77396106C>A	ENST00000282849.5	-	7	1530	c.1112G>T	c.(1111-1113)tGg>tTg	p.W371L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	371	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.W371L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGCAGACTGCCATTGACAAAA	0.403000													7	32					8.12818e-05	0.000111763	0.248553	1	0
TAF1L	138474	broad.mit.edu	37	9	32633194	32633194	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:32633194A>G	ENST00000242310.4	-	1	2473	c.2384T>C	c.(2383-2385)tTa>tCa	p.L795S		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	795					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	p.L795S(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AATATCCACTAATTCCCGAAT	0.428000													6	73					0	0	0.706142	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130372452	130372452	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:130372452G>T	ENST00000529410.1	+	8	827	c.348G>T	c.(346-348)ggG>ggT	p.G116G	L3MBTL3_ENST00000533560.1_Silent_p.G91G|L3MBTL3_ENST00000526019.1_Silent_p.G91G|L3MBTL3_ENST00000368136.2_Silent_p.G116G|L3MBTL3_ENST00000361794.2_Silent_p.G116G|L3MBTL3_ENST00000368139.2_Silent_p.G91G			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	116					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.G116G(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAGTAGAAGGGCTTCAGTTCT	0.423000													5	45					0.014758	0.0164057	0.184627	1	0
GPR78	27201	broad.mit.edu	37	4	8589020	8589020	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:8589020C>T	ENST00000382487.4	+	3	1439	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	341					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P341L(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AAGAGAACCCCGCGCCCAGCG	0.637000													3	39					0	0	0.115264	0	0
IRS1	3667	broad.mit.edu	37	2	227661390	227661390	+	Missense_Mutation	SNP	C	C	A	rs141094678	byFrequency	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:227661390C>A	ENST00000305123.4	-	1	3085	c.2065G>T	c.(2065-2067)Gtc>Ttc	p.V689F		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	689					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.V689F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCGGAAGGGACGGCGTtgctg	0.627000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	50					3.62473e-10	6.67714e-10	0.608945	1	0
MED12L	116931	broad.mit.edu	37	3	151082916	151082916	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:151082916G>T	ENST00000474524.1	+	20	3040	c.3002G>T	c.(3001-3003)aGt>aTt	p.S1001I	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.S861I	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1001					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.S1001I(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGATCCTCAGTGACAATGCG	0.483000													15	131					3.45872e-05	5.03126e-05	0.500413	1	0
FAM126A	84668	broad.mit.edu	37	7	22985289	22985289	+	Silent	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:22985289T>A	ENST00000432176.2	-	11	1717	c.1485A>T	c.(1483-1485)tcA>tcT	p.S495S	FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	495						cytoplasm|membrane	signal transducer activity	p.S495S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CAGTTCTTTCTGAAACGTAAA	0.418000													20	81					0	0	0.592651	0	0
FANCG	2189	broad.mit.edu	37	9	35074929	35074929	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr9:35074929C>A	ENST00000378643.3	-	12	2122	c.1631G>T	c.(1630-1632)tGc>tTc	p.C544F	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	544					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.C544F(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CATACCTGGGCACATCTGCAC	0.532000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					16	54					1.15088e-07	1.94053e-07	0.500413	1	0
OR11A1	26531	broad.mit.edu	37	6	29395248	29395248	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:29395248G>T	ENST00000377149.1	-	5	643	c.171C>A	c.(169-171)ctC>ctA	p.L57L	OR11A1_ENST00000377147.2_Silent_p.L57L|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Silent_p.L57L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L57L(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TGGGTTTGTGGAGCCTCTGGG	0.428000													13	43					7.93312e-07	1.26732e-06	0.457914	1	0
GPR32	2854	broad.mit.edu	37	19	51274753	51274753	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:51274753A>C	ENST00000270590.4	+	1	1033	c.896A>C	c.(895-897)cAg>cCg	p.Q299P		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	299						integral to plasma membrane	N-formyl peptide receptor activity	p.Q299P(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTCATCCTCCAGGCTAGCTTT	0.517000													7	65					0	0	0.335167	0	0
BLM	641	broad.mit.edu	37	15	91303889	91303889	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:91303889G>A	ENST00000355112.3	+	7	1404	c.1286G>A	c.(1285-1287)aGa>aAa	p.R429K	BLM_ENST00000560509.1_Missense_Mutation_p.R429K	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	429					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	p.R429K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TCATTGTGGAGATACAGGCCT	0.393000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				8	124					0	0	0.307466	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477491	42477491	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:42477491C>A	ENST00000434000.1	-	9	2002	c.1720G>T	c.(1720-1722)Ggg>Tgg	p.G574W	GPATCH8_ENST00000591680.1_Missense_Mutation_p.G652W			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	652						intracellular	nucleic acid binding|zinc ion binding	p.G652W(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTCTCAGACCCATGGCTACCC	0.532000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	64					0.00448238	0.00532629	0.307466	1	0
TMTC4	84899	broad.mit.edu	37	13	101315270	101315270	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:101315270G>T	ENST00000342624.5	-	5	758	c.500C>A	c.(499-501)gCg>gAg	p.A167E	TMTC4_ENST00000376234.3_Missense_Mutation_p.A148E|TMTC4_ENST00000328767.5_Intron	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	148						integral to membrane	binding	p.A167E(2)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAGGGACGCCCTGGGGGC	0.602000													6	54					2.7689e-08	4.80914e-08	0.248553	1	0
TMCO4	255104	broad.mit.edu	37	1	20009760	20009760	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:20009760C>A	ENST00000294543.6	-	16	1919	c.1678G>T	c.(1678-1680)Ggg>Tgg	p.G560W	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.G520W|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	560						integral to membrane		p.G560W(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGGTTTGCCCAACCTGGTGG	0.662000													15	63					1.37285e-15	2.72917e-15	0.500413	1	0
NEDD1	121441	broad.mit.edu	37	12	97328946	97328946	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:97328946G>C	ENST00000266742.4	+	7	1021	c.682G>C	c.(682-684)Gat>Cat	p.D228H	NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000429527.2_Missense_Mutation_p.D228H|NEDD1_ENST00000411739.2_Missense_Mutation_p.D139H|NEDD1_ENST00000557644.1_Missense_Mutation_p.D235H|NEDD1_ENST00000457368.2_Missense_Mutation_p.D139H	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	228					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		p.D228H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CATAGGCTTGGATAAAAGAAT	0.363000													8	63					0	0	0.307466	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804386	21804386	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:21804386C>A	ENST00000449193.2	-	4	4618	c.2366G>T	c.(2365-2367)cGa>cTa	p.R789L	SKIDA1_ENST00000444772.3_Missense_Mutation_p.R710L	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.R789L(2)									AAGGACAGGTCGCTTTCCCAG	0.448000													9	91					1.76689e-08	3.09206e-08	0.335167	1	0
CLEC4M	10332	broad.mit.edu	37	19	7832409	7832409	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:7832409T>A	ENST00000327325.5	+	6	1062	c.944T>A	c.(943-945)cTa>cAa	p.L315Q	CLEC4M_ENST00000334806.5_Missense_Mutation_p.L264Q|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000248228.4_Missense_Mutation_p.L293Q|CLEC4M_ENST00000359059.5_Missense_Mutation_p.L248Q|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.L303Q|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000596707.1_Missense_Mutation_p.L248Q|CLEC4M_ENST00000595496.1_Missense_Mutation_p.L179Q	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	315	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	p.L315Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGAACTTCCTACAGCTGCAG	0.542000													4	29					0	0	0.150653	0	0
CPS1	1373	broad.mit.edu	37	2	211525286	211525286	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:211525286G>T	ENST00000233072.5	+	32	4030	c.3834G>T	c.(3832-3834)gtG>gtT	p.V1278V	CPS1_ENST00000430249.2_Silent_p.V1284V|CPS1_ENST00000451903.2_Silent_p.V827V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1278	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.V1284V(1)|p.V1278V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TCATTGATGTGGCCACCAAGG	0.408000													6	133					0.217242	0.22264	0.217242	1	0
GPR15	2838	broad.mit.edu	37	3	98251619	98251619	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:98251619G>A	ENST00000284311.3	+	1	877	c.742G>A	c.(742-744)Gca>Aca	p.A248T		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	248						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A248T(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TATTGTCGTGGCAGCCTTTCT	0.443000													12	45					0	0	0.435327	0	0
MEPE	56955	broad.mit.edu	37	4	88766351	88766351	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr4:88766351G>T	ENST00000497649.2	+	6	637	c.259G>T	c.(259-261)Ggc>Tgc	p.G87C	MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.G111C|MEPE_ENST00000395102.4_Missense_Mutation_p.G142C|MEPE_ENST00000361056.3_Missense_Mutation_p.G111C|MEPE_ENST00000560249.1_5'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	111					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.G111C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TACTCACAATGGCCTGAGGAT	0.363000													5	35					3.59834e-05	5.15003e-05	0.217242	1	0
DDX59	83479	broad.mit.edu	37	1	200594086	200594086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:200594086C>T	ENST00000447706.2	-	8	1837	c.1686G>A	c.(1684-1686)tgG>tgA	p.W562*				Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	0	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	p.W562*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGTCTTCTTCCCATTGTGCTT	0.368000													4	52					0	0	0.150653	0	0
NOTCH4	4855	broad.mit.edu	37	6	32181560	32181560	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:32181560C>G	ENST00000375023.3	-	14	2363	c.2225G>C	c.(2224-2226)gGc>gCc	p.G742A	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	742	EGF-like 19.				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	p.G742A(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTTGCAGGAGCCGCCATTGAG	0.592000													5	33					0	0	0.217242	0	0
DGKA	1606	broad.mit.edu	37	12	56330338	56330338	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:56330338A>G	ENST00000331886.5	+	2	505	c.51A>G	c.(49-51)caA>caG	p.Q17Q	DGKA_ENST00000394147.1_Silent_p.Q17Q|DGKA_ENST00000551156.1_Silent_p.Q17Q	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	17					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.Q17Q(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCAGCTGCAAAAATACATGG	0.527000													5	21					0	0	0.217242	0	0
CCNA1	8900	broad.mit.edu	37	13	37015285	37015285	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr13:37015285G>C	ENST00000418263.1	+	7	1476	c.1126G>C	c.(1126-1128)Gat>Cat	p.D376H	CCNA1_ENST00000440264.1_Missense_Mutation_p.D333H|CCNA1_ENST00000255465.4_Missense_Mutation_p.D377H|CCNA1_ENST00000449823.1_Missense_Mutation_p.D333H	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	377					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.D377H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ACTTGAAGCAGATCCATTCTT	0.403000													6	45					0	0	0.217242	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386312	56386312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:56386312C>A	ENST00000355701.3	-	22	5191	c.4321G>T	c.(4321-4323)Gga>Tga	p.G1441*	BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.G1441*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.G1381*	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1441						mitochondrion	benzodiazepine receptor binding	p.G1441*(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCAGTCGTCCAGAGGCCTGG	0.692000													7	69					2.0095e-06	3.14069e-06	0.248553	1	0
TRPM1	4308	broad.mit.edu	37	15	31355463	31355463	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:31355463C>A	ENST00000542188.1	-	7	1187	c.874G>T	c.(874-876)Gtg>Ttg	p.V292L	TRPM1_ENST00000397795.2_Missense_Mutation_p.V253L|TRPM1_ENST00000256552.6_Missense_Mutation_p.V275L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	253					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.V253L(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCCTCCACCACGAGACCCACG	0.602000													6	68					0.217242	0.22264	0.217242	1	0
PDZD4	57595	broad.mit.edu	37	X	153070179	153070179	+	Silent	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chrX:153070179G>T	ENST00000164640.4	-	8	1130	c.939C>A	c.(937-939)cgC>cgA	p.R313R	PDZD4_ENST00000393758.2_Silent_p.R238R|PDZD4_ENST00000544474.1_Silent_p.R204R	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	313						cell cortex		p.R313R(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAAACTTGCGCAGGCTTC	0.682000													5	13					1.23904e-05	1.83473e-05	0.184627	1	0
DNAH9	1770	broad.mit.edu	37	17	11593507	11593507	+	Silent	SNP	G	G	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:11593507G>A	ENST00000262442.3	+	20	4436	c.4368G>A	c.(4366-4368)cgG>cgA	p.R1456R	DNAH9_ENST00000454412.2_Silent_p.R1456R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1456	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1456R(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCACCCACGGACCAATGTCC	0.493000													19	40					0	0	0.608945	0	0
ZNF93	81931	broad.mit.edu	37	19	20027413	20027413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:20027413G>T	ENST00000343769.5	+	3	203	c.175G>T	c.(175-177)Gga>Tga	p.G59*	AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000591366.1_Nonsense_Mutation_p.G59*|ZNF93_ENST00000592160.1_Nonsense_Mutation_p.G59*	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	59	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G59*(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TCTGGAGCAAGGAAAAAAACC	0.408000													10	68					0.000442599	0.000573097	0.335167	1	0
AHNAK2	113146	broad.mit.edu	37	14	105418992	105418992	+	Silent	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:105418992C>T	ENST00000333244.5	-	7	2915	c.2796G>A	c.(2794-2796)aaG>aaA	p.K932K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	932						nucleus		p.K932K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGGGGGCCCTTGAGGTCCA	0.622000													21	251					0	0	0.639603	0	0
CCDC8	83987	broad.mit.edu	37	19	46916052	46916052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:46916052C>A	ENST00000307522.3	-	1	789	c.16G>T	c.(16-18)Gag>Tag	p.E6*		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	6						plasma membrane		p.E6*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		tcgacgtcctccccgatctgc	0.602000													8	28					0.361761	0.367488	0.361761	1	0
TG	7038	broad.mit.edu	37	8	133931682	133931682	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:133931682C>A	ENST00000220616.4	+	21	4480	c.4440C>A	c.(4438-4440)ttC>ttA	p.F1480L	TG_ENST00000377869.1_Missense_Mutation_p.F1480L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1480					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.F1480L(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGTTGGATTCTACCAAGAAC	0.453000													8	51					0.00307968	0.00368986	0.278610	1	0
CALD1	800	broad.mit.edu	37	7	134632491	134632491	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:134632491G>C	ENST00000361388.2	+	8	1544	c.1078G>C	c.(1078-1080)Gag>Cag	p.E360Q	CALD1_ENST00000422748.1_Missense_Mutation_p.E360Q|CALD1_ENST00000361675.2_Missense_Mutation_p.E589Q|CALD1_ENST00000495522.1_Missense_Mutation_p.E354Q|CALD1_ENST00000393118.2_Missense_Mutation_p.E354Q|CALD1_ENST00000361901.2_Missense_Mutation_p.E334Q|CALD1_ENST00000543443.1_Missense_Mutation_p.E339Q|CALD1_ENST00000417172.1_Missense_Mutation_p.E334Q|CALD1_ENST00000424922.1_Missense_Mutation_p.E328Q	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	589	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	p.E589Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gaggaagcaggaggaagCCGA	0.567000													5	16					0	0	0.217242	0	0
ABCA10	10349	broad.mit.edu	37	17	67161198	67161198	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:67161198C>T	ENST00000269081.4	-	27	4098	c.3189G>A	c.(3187-3189)atG>atA	p.M1063I	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1063					transport	integral to membrane	ATP binding|ATPase activity	p.M1063_V1064>IL(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAGTTGATACCATAATTGTGG	0.299000													5	24					0	0	0.184627	0	0
DSG2	1829	broad.mit.edu	37	18	29125892	29125892	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr18:29125892A>G	ENST00000261590.8	+	15	2752	c.2543A>G	c.(2542-2544)aAt>aGt	p.N848S	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	848					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.N848S(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATAGATATAAATAAGGAAATT	0.373000													5	76					0	0	0.217242	0	0
OR2M5	127059	broad.mit.edu	37	1	248308455	248308455	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248308455A>G	ENST00000366476.1	+	1	6	c.6A>G	c.(4-6)gcA>gcG	p.A2A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A2A(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCATCATGGCATGGGAGAATC	0.403000													14	116					0	0	0.457914	0	0
ABHD5	51099	broad.mit.edu	37	3	43744035	43744035	+	Silent	SNP	A	A	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr3:43744035A>G	ENST00000458276.2	+	3	585	c.462A>G	c.(460-462)ctA>ctG	p.L154L		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	154					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	p.L154L(1)		kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GGCACAACCTAGGTGGATTCT	0.468000													4	84					0	0	0.150653	0	0
MKX	283078	broad.mit.edu	37	10	28030410	28030410	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:28030410A>C	ENST00000375790.5	-	3	644	c.212T>G	c.(211-213)gTg>gGg	p.V71G	MKX_ENST00000419761.1_Missense_Mutation_p.V71G			Q8IYA7	MKX_HUMAN	mohawk homeobox	71					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V71G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTTGTGCCTCACCTTCCCGCC	0.672000													7	39					0	0	0.717897	0	0
PADI6	353238	broad.mit.edu	37	1	17708498	17708498	+	RNA	SNP	A	A	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:17708498A>T	ENST00000434762.2	+	0	640							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.Q197L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTGAATGTCCAAGGCCCCAGC	0.498000													6	38					0	0	0.217242	0	0
GABRA5	2558	broad.mit.edu	37	15	27159994	27159994	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr15:27159994C>T	ENST00000335625.5	+	7	1430	c.542C>T	c.(541-543)cCg>cTg	p.P181L	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.P181L|GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000355395.5_Missense_Mutation_p.P181L	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	181					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.P181L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAGGACTTCCCGATGGATGCG	0.448000													3	38					0	0	0.150653	0	0
GALNT14	79623	broad.mit.edu	37	2	31165143	31165143	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr2:31165143G>T	ENST00000349752.5	-	9	1494	c.855C>A	c.(853-855)ttC>ttA	p.F285L	GALNT14_ENST00000356174.3_Missense_Mutation_p.F252L|GALNT14_ENST00000406653.1_Missense_Mutation_p.F265L|GALNT14_ENST00000420311.2_Missense_Mutation_p.F250L|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.F290L	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	285	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.F285F(1)|p.F285L(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGTCGATCACGAAGAGCCCTC	0.498000													15	40					4.14922e-12	8.00058e-12	0.500413	1	0
HIVEP3	59269	broad.mit.edu	37	1	42047882	42047882	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:42047882delC	ENST00000372584.1	-	3	3601	c.2587delG	c.(2587-2589)agfs	p.E863fs	HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.E863fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.E863fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.E863fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	863	Acidic 2.|Glu/Pro-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGGTCAGGCTCCTCAGTTACT	0.617													7	138	---	---	---	---					
CRTC2	200186	broad.mit.edu	37	1	153924914	153924915	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:153924914_153924915delTG	ENST00000368633.1	-	9	837_838	c.710_711delCA	c.(709-711)tfs	p.S240fs	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	240	Poly-Ser.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGAAGAGGATGAGGATAGCTG	0.540													19	92	---	---	---	---					
RALGPS2	55103	broad.mit.edu	37	1	178858785	178858785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:178858785delG	ENST00000367635.3	+	14	1539	c.1201delG	c.(1201-1203)atfs	p.D401fs	RALGPS2_ENST00000367634.2_Frame_Shift_Del_p.D401fs|RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Frame_Shift_Del_p.D366fs	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	401					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGGTAGCAGCGATGGTTCTGA	0.318													14	142	---	---	---	---					
EPRS	2058	broad.mit.edu	37	1	220195814	220195829	+	Frame_Shift_Del	DEL	GCTCCCTTTTTTCATT	GCTCCCTTTTTTCATT	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:220195814_220195829delGCTCCCTTTTTTCATT	ENST00000366923.3	-	9	1244_1259	c.975_990delAATGAAAAAAGGGAGC	c.(973-990)gafs	p.EMKKGS325fs		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	325	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GACCAAACTGGCTCCCTTTTTTCATTTCTTCCCACA	0.352													8	147	---	---	---	---					
ABCB10	23456	broad.mit.edu	37	1	229657378	229657378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:229657378delC	ENST00000344517.4	-	11	1953	c.1911delG	c.(1909-1911)ggfs	p.G637fs		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	637	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTGTTTCTGCCCACCTGACA	0.378													13	45	---	---	---	---					
RYR2	6262	broad.mit.edu	37	1	237947550	237947550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:237947550delG	ENST00000366574.2	+	90	12855	c.12538delG	c.(12538-12540)gcfs	p.G4181fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.G4165fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.G4187fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4181					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G4178C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTCAACGAAGGCGGAGAGAA	0.502													11	69	---	---	---	---					
ZP4	57829	broad.mit.edu	37	1	238050766	238050766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:238050766delG	ENST00000366570.4	-	5	807	c.649delC	c.(649-651)ttfs	p.L217fs	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	217	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCATTCCTAAGGGCCAAGCGC	0.512													10	58	---	---	---	---					
OR2T8	343172	broad.mit.edu	37	1	248085108	248085109	+	Frame_Shift_Ins	INS	-	-	A	rs4625315	by1000genomes	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr1:248085108_248085109insA	ENST00000319968.4	+	1	789_790	c.789_790insA	c.(787-792)caggtcfs	p.V264fs		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAAATCCCACAGGTCCACTAA	0.490													12	62	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24537496	24537497	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:24537496_24537497delAG	ENST00000264463.4	-	3	1025_1026	c.518_519delCT	c.(517-519)tfs	p.S173fs		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	173	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TACCTACAACAGACATTTCGGG	0.322										HNSCC(23;0.051)			13	153	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150925237	150925237	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr5:150925237delG	ENST00000261800.5	-	9	5463	c.5451delC	c.(5449-5451)ccfs	p.P1817fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1817	Cadherin 16.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCCATGCTGGGATCAATTT	0.423													9	51	---	---	---	---					
ZNF184	7738	broad.mit.edu	37	6	27419414	27419415	+	Frame_Shift_Ins	INS	-	-	G			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:27419414_27419415insG	ENST00000211936.6	-	6	2207_2208	c.1923_1924insC	c.(1921-1926)ccaccafs	p.P642fs	ZNF184_ENST00000377419.1_Frame_Shift_Ins_p.P642fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P641P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACACTGGTAGGGTTTTTCTT	0.426													8	94	---	---	---	---					
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	Frame_Shift_Ins	INS	-	-	T	rs17875385		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr6:29694802_29694803insT	ENST00000259951.7	+	7	1235_1236	c.1179_1180insT	c.(1177-1182)ttttttfs	p.FF393fs	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535													8	246	---	---	---	---					
HDAC9	9734	broad.mit.edu	37	7	18869149	18869149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:18869149delG	ENST00000406451.3	+	19	2585	c.2435delG	c.(2434-2436)acfs	p.S812fs	HDAC9_ENST00000432645.2_Frame_Shift_Del_p.S812fs|HDAC9_ENST00000401921.1_Frame_Shift_Del_p.S771fs|HDAC9_ENST00000441542.2_Frame_Shift_Del_p.S815fs	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	812	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTAAATATAAGCAAGATATTG	0.383													7	68	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82544780	82544780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:82544780delT	ENST00000423517.2	-	7	12859	c.12522delA	c.(12520-12522)cafs	p.Q4174fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.Q4174fs|PCLO_ENST00000437081.1_Frame_Shift_Del_p.Q894fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4105					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTTGCTGCTTGTTTTTCAA	0.363													14	87	---	---	---	---					
OR2F2	135948	broad.mit.edu	37	7	143632642	143632642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:143632642delC	ENST00000408955.2	+	1	384	c.317delC	c.(316-318)gcfs	p.A106fs		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTCTCCCTGGCCTTGGGTGGG	0.547													17	98	---	---	---	---					
GIMAP5	55340	broad.mit.edu	37	7	150440086	150440087	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr7:150440086_150440087insA	ENST00000358647.3	+	3	1226_1227	c.859_860insA	c.(859-861)tttfs	p.F287fs	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGATTTTTGTTTTTCTATTG	0.396													7	58	---	---	---	---					
TRPA1	8989	broad.mit.edu	37	8	72951251	72951251	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:72951251delC	ENST00000262209.4	-	19	2351	c.2144delG	c.(2143-2145)gafs	p.G715fs	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	715						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGCTCTAAATCCATAAGCCAA	0.333													12	118	---	---	---	---					
FER1L6	654463	broad.mit.edu	37	8	125022845	125022846	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:125022845_125022846insT	ENST00000522917.1	+	14	1918_1919	c.1712_1713insT	c.(1711-1713)tttfs	p.F571fs	FER1L6_ENST00000399018.1_Frame_Shift_Ins_p.F571fs|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	571						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AATTACAACTATTTGCCATTTG	0.455													39	126	---	---	---	---					
ZNF572	137209	broad.mit.edu	37	8	125989900	125989900	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr8:125989900delG	ENST00000319286.5	+	3	1544	c.1390delG	c.(1390-1392)ggfs	p.G464fs		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GACCCACATAGGGGAAAAACC	0.448										HNSCC(60;0.17)			7	215	---	---	---	---					
CCDC147	159686	broad.mit.edu	37	10	106160471	106160471	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr10:106160471delC	ENST00000369704.3	+	13	1983	c.1849delC	c.(1849-1851)ttfs	p.L617fs		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	617										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGGGTCTCAGCTTGTTCGGCG	0.502													11	90	---	---	---	---					
KIAA1549L	25758	broad.mit.edu	37	11	33564707	33564708	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:33564707_33564708insA	ENST00000321505.4	+	1	887_888	c.707_708insA	c.(706-708)gtcfs	p.V236fs	KIAA1549L_ENST00000265654.5_Frame_Shift_Ins_p.V236fs|KIAA1549L_ENST00000389726.3_Frame_Shift_Ins_p.V236fs					KIAA1549-like																		GGCAGTGATGGGTCCCCTCCTG	0.515											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	63	---	---	---	---					
OR5A2	219981	broad.mit.edu	37	11	59189613	59189613	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr11:59189613delC	ENST00000302040.4	-	1	836	c.814delG	c.(814-816)acfs	p.D272fs		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D272Y(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACCACCTTGTCCCTGTTTAGG	0.473													8	55	---	---	---	---					
CD163	9332	broad.mit.edu	37	12	7639141	7639141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr12:7639141delC	ENST00000359156.4	-	10	2614	c.2412delG	c.(2410-2412)ggfs	p.G804fs	CD163_ENST00000432237.2_Frame_Shift_Del_p.G804fs|CD163_ENST00000541972.1_Frame_Shift_Del_p.G792fs|CD163_ENST00000396620.3_Frame_Shift_Del_p.G837fs	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	804	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AATTTTGCTGCCCCCAGCCGT	0.478													8	115	---	---	---	---					
TRAV40	28641	broad.mit.edu	37	14	22783028	22783030	+	RNA	DEL	ACA	ACA	-	rs150962227		TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr14:22783028_22783030delACA	ENST00000390467.3	+	0	43																											TCCAAAAGATACAACAACTCTGG	0.360													3	5	---	---	---	---					
ORAI3	93129	broad.mit.edu	37	16	30964748	30964748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr16:30964748delG	ENST00000318663.4	+	2	695	c.471delG	c.(469-471)ctfs	p.L157fs	ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Frame_Shift_Del_p.L157fs|AC135048.13_ENST00000566056.1_RNA	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	157						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CCACTGCCCTGGGCACCTTTC	0.587											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	170	---	---	---	---					
FBXW10	10517	broad.mit.edu	37	17	18682089	18682090	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr17:18682089_18682090delGA	ENST00000308799.4	+	12	2883_2884	c.2664_2665delGA	c.(2662-2667)gtaafs	p.VK888fs	FBXW10_ENST00000395665.4_Frame_Shift_Del_p.VK879fs|FBXW10_ENST00000395667.1_Frame_Shift_Del_p.VK878fs|FBXW10_ENST00000301938.4_Frame_Shift_Del_p.VK826fs			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	879										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CTATAGATGTGAAACGAACCAG	0.446													13	90	---	---	---	---					
DDA1	79016	broad.mit.edu	37	19	17426798	17426799	+	Frame_Shift_Ins	INS	-	-	A	rs148196076	by1000genomes	TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:17426798_17426799insA	ENST00000359866.4	+	4	316_317	c.192_193insA	c.(190-195)gaaaaafs	p.EK64fs		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	64										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						AGCAATGGGACAAAAAGGTGAG	0.554													31	220	---	---	---	---					
ZNF99	7652	broad.mit.edu	37	19	22939803	22939804	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr19:22939803_22939804delGA	ENST00000397104.3	-	6	2526_2527	c.2527_2528delTC	c.(2527-2529)afs	p.S843fs						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCTAAGGGCTGAGAAATTGCTA	0.347													15	99	---	---	---	---					
PAK7	57144	broad.mit.edu	37	20	9561157	9561158	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:9561157_9561158insT	ENST00000378429.3	-	5	1170_1171	c.624_625insA	c.(622-627)aacaagfs	p.NK208fs	PAK7_ENST00000378423.1_Frame_Shift_Ins_p.NK208fs|PAK7_ENST00000353224.5_Frame_Shift_Ins_p.NK208fs	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	208	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TATTCACTTGGTTTGCTCAGTG	0.470													7	106	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57768672	57768672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5049-01A-01D-1625-08	TCGA-50-5049-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96358297-0735-4eab-a01c-a6be5d86a3de	b648ea4e-b769-4d06-a274-5cf980b6e7bd	g.chr20:57768672delA	ENST00000371030.2	+	1	2598	c.2598delA	c.(2596-2598)ccfs	p.P866fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	866						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGAGGTGCCAGGGGGCTCAA	0.652													10	62	---	---	---	---					
