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
DNAJC16	23341	broad.mit.edu	37	1	15888817	15888817	+	Silent	SNP	A	A	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:15888817A>C	uc001aws.3	+	8	1455	c.1335A>C	c.(1333-1335)tcA>tcC	p.S445S	DNAJC16_uc001awr.1_Silent_p.S445S|DNAJC16_uc001awt.3_Silent_p.S133S|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	445					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AAGGGAAATCAGCGGTAAGCC	0.473												
DOCK7	85440	broad.mit.edu	37	1	62993826	62993826	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:62993826G>C	uc001daq.3	-	30	3966	c.3932C>G	c.(3931-3933)tCa>tGa	p.S1311*	DOCK7_uc001dan.3_Nonsense_Mutation_p.S1172*|DOCK7_uc001dao.3_Nonsense_Mutation_p.S1172*|DOCK7_uc001dap.3_Nonsense_Mutation_p.S1280*|DOCK7_uc001dam.3_Nonsense_Mutation_p.S491*|DOCK7_uc010oov.1_Intron	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1311					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTTACCGTTGACGTGAGGAG	0.423												
OR10J1	26476	broad.mit.edu	37	1	159410403	159410403	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:159410403G>A	uc010piv.2	+	0	892	c.855G>A	c.(853-855)tcG>tcA	p.S285S	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	285					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGCTGATCTCGGTGACCTACA	0.517												
ATP1A4	480	broad.mit.edu	37	1	160144388	160144388	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:160144388C>A	uc001fve.4	+	14	2641	c.2162C>A	c.(2161-2163)aCa>aAa	p.T721K	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.T224K|ATP1A4_uc001fvh.3_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	721					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.T721I(2)|p.V720L(1)|p.V720M(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGGCCGTGACAGGTGACGGG	0.542												
SLC9C2	284525	broad.mit.edu	37	1	173505000	173505000	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:173505000A>C	uc001giz.2	-	14	2167	c.1744T>G	c.(1744-1746)Tgt>Ggt	p.C582G	SLC9C2_uc009wwe.2_Missense_Mutation_p.C140G|SLC9C2_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	582					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTTTCTATACAATATTCCAAG	0.264												
HMCN1	83872	broad.mit.edu	37	1	186017944	186017945	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:186017944_186017945insA	uc001grq.1	+	41	6779_6780	c.6550_6551insA	c.(6550-6552)gaafs	p.E2184fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2184	Ig-like C2-type 19.			E -> EK (in Ref. 1).	response to stimulus|visual perception	basement membrane	calcium ion binding			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						TGGAAAAACTGAAAAAAACTAC	0.361												
AIDA	64853	broad.mit.edu	37	1	222860999	222860999	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:222860999G>C	uc001hnn.3	-	5	495	c.290_splice	c.e5-1	p.I97_splice	AIDA_uc001hno.3_Splice_Site|AIDA_uc010pus.2_Splice_Site_p.I73_splice	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	Homo sapiens axin interactor, dorsalization associated (AIDA), mRNA.	97					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TATTCTTTAGGACTAGAATAA	0.224												
KIAA1217	56243	broad.mit.edu	37	10	24762771	24762771	+	Silent	SNP	C	C	T	rs143282203	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr10:24762771C>T	uc001iru.4	+	5	1864	c.1461C>T	c.(1459-1461)caC>caT	p.H487H	KIAA1217_uc001irs.3_Silent_p.H407H|KIAA1217_uc001irt.4_Silent_p.H487H|KIAA1217_uc010qcy.2_Silent_p.H487H|KIAA1217_uc010qcz.2_Silent_p.H487H|KIAA1217_uc001irv.1_Silent_p.H337H|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.H205H|KIAA1217_uc001irz.3_Silent_p.H205H|KIAA1217_uc001irx.3_Silent_p.H205H|KIAA1217_uc001iry.3_Silent_p.H205H	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	487					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAGACATGCACGCTCACTATA	0.557												
KIAA1462	57608	broad.mit.edu	37	10	30315407	30315407	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr10:30315407G>C	uc009xle.2	-	2	3807	c.3670C>G	c.(3670-3672)Cca>Gca	p.P1224A	KIAA1462_uc001iux.3_Missense_Mutation_p.P1224A|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P1086A	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1224										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						GCCACACTTGGGGTTCTTTCT	0.488												
DOCK1	1793	broad.mit.edu	37	10	129231688	129231688	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr10:129231688G>T	uc010qun.2	+	47	5120	c.5056G>T	c.(5056-5058)Gac>Tac	p.D1686Y	DOCK1_uc001ljt.3_Missense_Mutation_p.D1665Y|DOCK1_uc009yaq.3_Missense_Mutation_p.D660Y	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1665					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.D1665Y(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACCAGGCTCCGACGGGTGAGT	0.597												
NELL1	4745	broad.mit.edu	37	11	20949959	20949959	+	Missense_Mutation	SNP	C	C	T	rs150066751		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr11:20949959C>T	uc009yid.3	+	9	1168	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	NELL1_uc010rdp.2_Missense_Mutation_p.P71S|NELL1_uc001mqe.3_Missense_Mutation_p.P311S|NELL1_uc001mqf.3_Missense_Mutation_p.P311S|NELL1_uc010rdo.2_Missense_Mutation_p.P254S	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	311	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTCCTGTCCCCCTCTCAATTG	0.537												
PACS1	55690	broad.mit.edu	37	11	65988123	65988123	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr11:65988123G>A	uc001oha.2	+	8	1194	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M		NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	354					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GCTGGAGCATGTGTCCCGCGA	0.517												
PRMT8	56341	broad.mit.edu	37	12	3649947	3649947	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr12:3649947G>T	uc001qmf.3	+	1	618	c.251G>T	c.(250-252)gGg>gTg	p.G84V	PRMT8_uc009zed.3_Missense_Mutation_p.G75V|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	84					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCCCACTTTGGGATCCACGAG	0.532												
DDX12P	440081	broad.mit.edu	37	12	9590605	9590605	+	Splice_Site	SNP	A	A	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr12:9590605A>C	uc001qvx.4	-	3		c.588_splice	c.e3+1		DDX12P_uc009zgq.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		CCCAGGTCTCACCTTCAGTCG	0.602												
TMEM132D	121256	broad.mit.edu	37	12	129694197	129694197	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr12:129694197G>A	uc009zyl.1	-	4	1639	c.1311C>T	c.(1309-1311)atC>atT	p.I437I		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	437						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGTGTTCAGGATTTCTGCCT	0.617												
MTUS2	23281	broad.mit.edu	37	13	29599308	29599308	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr13:29599308T>C	uc001usl.4	+	0	561	c.503T>C	c.(502-504)gTt>gCt	p.V168A		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	158						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.R168W(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCCCGGCATGTTCCCAAGGAT	0.507												
SLITRK6	84189	broad.mit.edu	37	13	86370526	86370526	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr13:86370526T>G	uc001vll.1	-	1	577	c.118A>C	c.(118-120)Aaa>Caa	p.K40Q	SLITRK6_uc021rla.1_Missense_Mutation_p.K40Q	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	40	LRRNT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTGCCATCTTTTTCCTCACAA	0.388												
FOXA1	3169	broad.mit.edu	37	14	38060897	38060897	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:38060897G>A	uc001wuf.3	-	1	1404	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	FOXA1_uc010tpz.2_Silent_p.P331P	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	364					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCAGCGCCCCGGGCCCGGAGC	0.697												
SIPA1L1	26037	broad.mit.edu	37	14	72055586	72055586	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:72055586C>T	uc001xms.3	+	1	1358	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	SIPA1L1_uc001xmt.3_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmu.3_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmv.3_Missense_Mutation_p.H333Y	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	333					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTGCTTTGCCCACTATGATGT	0.448												
FAM181A	90050	broad.mit.edu	37	14	94394688	94394688	+	Silent	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:94394688C>T	uc001ybz.2	+	2	568	c.243C>T	c.(241-243)agC>agT	p.S81S	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.S19S|FAM181A_uc021saz.1_Silent_p.S19S|FAM181A_uc010aus.2_Silent_p.S19S|FAM181A_uc001yca.2_Silent_p.S19S	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	81										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGGCGTCCAGCGACATCAAGG	0.587												
SERPINA11	256394	broad.mit.edu	37	14	94914503	94914503	+	Silent	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:94914503C>T	uc001ydd.1	-	1	669	c.609G>A	c.(607-609)acG>acA	p.T203T		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	203					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAACCATGAACGTGTCCTGGC	0.473												
RYR3	6263	broad.mit.edu	37	15	34077951	34077951	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:34077951G>T	uc001zhi.3	+	65	9427	c.9357G>T	c.(9355-9357)gaG>gaT	p.E3119D	RYR3_uc010bar.3_Missense_Mutation_p.E3119D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3119					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			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)		ACCTGGCCGAGTCAGGGGCCC	0.567												
TYRO3	7301	broad.mit.edu	37	15	41860451	41860451	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:41860451G>A	uc001zof.2	+	7	1234	c.998G>A	c.(997-999)cGc>cAc	p.R333H		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	333	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CATGCCATCCGCACAGATTCA	0.562												
CCDC33	80125	broad.mit.edu	37	15	74554903	74554903	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:74554903C>T	uc002axo.3	+	2	702	c.308C>T	c.(307-309)gCa>gTa	p.A103V		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	306							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGAGGATGCAGGGCAAGAA	0.587												
BCL2A1	597	broad.mit.edu	37	15	80263133	80263133	+	Missense_Mutation	SNP	G	G	A	rs143571009		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:80263133G>A	uc002bfc.4	-	0	511	c.329C>T	c.(328-330)cCg>cTg	p.P110L	BCL2A1_uc002bfd.4_Missense_Mutation_p.P110L	NM_004049	NP_004040	Q16548	B2LA1_HUMAN	Homo sapiens BCL2-related protein A1 (BCL2A1), transcript variant 1, mRNA.	110					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATCCACATCCGGGGCAATTTG	0.403												
GOLGA6L10	647042	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:83014106T>C	uc021ssz.1	-	5	577	c.441A>G	c.(439-441)gtA>gtG	p.V147V	LOC440295_uc002bhl.2_Intron|GOLGA6L9_uc021ssr.1_Intron|LOC440295_uc002bhm.2_Intron|GOLGA6L10_uc021sta.1_Non-coding_Transcript			A6NI86	GG6LA_HUMAN	Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.	159								p.V159V(12)		endometrium(1)|kidney(4)	5						GTAGCTGCTCTACCTTAGATG	0.498												
ALPK3	57538	broad.mit.edu	37	15	85400203	85400203	+	Missense_Mutation	SNP	C	C	A	rs142677464		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:85400203C>A	uc002ble.3	+	5	3007	c.2840C>A	c.(2839-2841)gCg>gAg	p.A947E		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	947					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCACCTACAGCGGGTCCTAGA	0.562												
PEX11A	8800	broad.mit.edu	37	15	90226684	90226684	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:90226684C>T	uc002boi.3	-	2	763	c.668G>A	c.(667-669)gGa>gAa	p.G223E	PEX11A_uc010upy.2_Non-coding_Transcript	NM_003847	NP_003838	O75192	PX11A_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 alpha (PEX11A), mRNA.	223					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCTCCAAGTCCAATGATGCC	0.483												
ALG1	56052	broad.mit.edu	37	16	5128838	5128838	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr16:5128838G>A	uc002cym.3	+	6	862	c.821G>A	c.(820-822)cGt>cAt	p.R274H	ALG1_uc002cyj.3_Missense_Mutation_p.R163H|ALG1_uc010bue.3_Missense_Mutation_p.R163H	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.	274					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ACGCGTCTCCGTGAGCGGCCA	0.652												
TAX1BP3	30851	broad.mit.edu	37	17	3567085	3567085	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:3567085C>T	uc002fwc.3	-	3	485	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	TAX1BP3_uc021tnt.1_Missense_Mutation_p.R85Q|P2RX5_uc002fwd.3_Non-coding_Transcript|TAX1BP3_uc002fwe.1_3'UTR	NM_014604	NP_055419	O14907	TX1B3_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 3 (TAX1BP3), transcript variant 1, mRNA.	111	PDZ.				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding			endometrium(1)	1				COAD - Colon adenocarcinoma(5;0.0761)		CAGCGACTGCCGCGTCACCAG	0.647												
ENO3	2027	broad.mit.edu	37	17	4860277	4860277	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:4860277G>A	uc010vst.2	+	7	903	c.721G>A	c.(721-723)Gag>Aag	p.E241K	ENO3_uc002gab.4_Missense_Mutation_p.E414K|ENO3_uc002gac.4_Missense_Mutation_p.E414K|ENO3_uc010vss.2_Missense_Mutation_p.E371K	NM_001193503	NP_001180432	P13929	ENOB_HUMAN	Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 3, mRNA.	414					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TTCTAGGATCGAGGAGGCTCT	0.577											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ALOX12B	242	broad.mit.edu	37	17	7984477	7984477	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:7984477G>A	uc002gjy.1	-	2	642	c.381C>T	c.(379-381)ccC>ccT	p.P127P	BC046191_uc010cnq.2_Non-coding_Transcript	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	127	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CCAGGAGGACGGGGAGCGAGT	0.617										Multiple Myeloma(8;0.094)		
USH1G	124590	broad.mit.edu	37	17	72916074	72916074	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:72916074G>A	uc002jme.1	-	1	1040	c.857C>T	c.(856-858)gCc>gTc	p.A286V	USH1G_uc010wro.1_Missense_Mutation_p.A183V	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	286					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGCCAGCGTGGCACGGGAGAC	0.687												
FOXJ1	2302	broad.mit.edu	37	17	74136123	74136123	+	Silent	SNP	C	C	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:74136123C>A	uc002jqx.3	-	1	709	c.354G>T	c.(352-354)ccG>ccT	p.P118P	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	118					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GCTTCACGTGCGGATTGGTGG	0.667												
FAM59A	64762	broad.mit.edu	37	18	29890192	29890192	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr18:29890192G>A	uc002kxl.3	-	2	413	c.357C>T	c.(355-357)cgC>cgT	p.R119R	FAM59A_uc002kxk.2_Silent_p.R119R	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	119	CABIT.							p.R119C(1)		endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						TGACGTACACGCGTTCAGGAA	0.413												
SERPINB5	5268	broad.mit.edu	37	18	61156656	61156656	+	Missense_Mutation	SNP	C	C	T	rs145559318		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr18:61156656C>T	uc002liz.4	+	3	525	c.383C>T	c.(382-384)aCg>aTg	p.T128M	SERPINB5_uc002liy.2_Missense_Mutation_p.T128M	NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	128					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTGGAAGAAACGAAAGGTCAG	0.388												
MUC16	94025	broad.mit.edu	37	19	9067989	9067989	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:9067989A>G	uc002mkp.3	-	2	19661	c.19457T>C	c.(19456-19458)tTg>tCg	p.L6486S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6488	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGTGGACAAATCTAATTG	0.488												
SLC44A2	57153	broad.mit.edu	37	19	10742381	10742381	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:10742381G>A	uc002mpf.3	+	7	721	c.582G>A	c.(580-582)ggG>ggA	p.G194G	SLC44A2_uc002mpe.4_Silent_p.G192G	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	194					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATGAGGATGGGCATGGCTCCC	0.602												
PSG7	5676	broad.mit.edu	37	19	43429925	43429925	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:43429925C>A	uc002ovl.4	-	6	1342	c.1240_splice	c.e6+1	p.D414_splice	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Splice_Site_p.D293_splice	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	415					female pregnancy	extracellular region							Prostate(69;0.00682)				ATCCACTTACCAGAGACTCTG	0.483												
ZNF45	7596	broad.mit.edu	37	19	44417709	44417709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:44417709delG	uc002oxu.2	-	3	1978	c.1879delC	c.(1879-1881)cttfs	p.L627fs	ZNF45_uc002oxw.2_Frame_Shift_Del_p.L627fs	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	627					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGGGCTTGAAGGTATGAGCTC	0.488												
CEACAM20	125931	broad.mit.edu	37	19	45029207	45029207	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:45029207G>A	uc010ejn.1	-	1	139	c.123C>T	c.(121-123)gcC>gcT	p.A41A	CEACAM20_uc010ejo.1_Silent_p.A41A|CEACAM20_uc010ejp.1_Silent_p.A41A|CEACAM20_uc010ejq.1_Silent_p.A41A	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	41			A -> V (in dbSNP:rs10408247).			integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CACTTTGGGTGGCATCAAGTG	0.562												
ZNF83	55769	broad.mit.edu	37	19	53116375	53116375	+	Silent	SNP	T	T	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:53116375T>C	uc002pzu.4	-	1	2687	c.1443A>G	c.(1441-1443)ggA>ggG	p.G481G	ZNF83_uc002pzv.4_Silent_p.G481G|ZNF83_uc010eps.3_Silent_p.G453G|ZNF83_uc010ept.3_Silent_p.G481G|ZNF83_uc010epu.3_Silent_p.G481G|ZNF83_uc010epw.3_Silent_p.G481G|ZNF83_uc010epv.3_Silent_p.G481G|ZNF83_uc010epx.3_Silent_p.G453G|ZNF83_uc010epy.3_Silent_p.G481G|ZNF83_uc010epz.3_Silent_p.G453G|ZNF83_uc010eqb.2_Silent_p.G453G|ZNF83_uc021uyx.1_Silent_p.G481G	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	481						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		AATGTTTCTCTCCAGTGTGGA	0.388												
TMC4	147798	broad.mit.edu	37	19	54669199	54669199	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:54669199T>G	uc010erf.3	-	5	1049	c.917A>C	c.(916-918)gAc>gCc	p.D306A	TMC4_uc002qdn.3_5'Flank|TMC4_uc002qdo.3_Missense_Mutation_p.D300A	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	306						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACGTGGACGTCCCCGCAGAG	0.632												
NLRP9	338321	broad.mit.edu	37	19	56244390	56244390	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:56244390G>A	uc002qly.3	-	1	835	c.807C>T	c.(805-807)tcC>tcT	p.S269S		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	269	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TAAGGAGAGAGGATTCTGGAA	0.408												
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393												
FEZ2	9637	broad.mit.edu	37	2	36810520	36810520	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:36810520A>C	uc002rpg.2	-	2	515	c.468T>G	c.(466-468)gaT>gaG	p.D156E	FEZ2_uc002rpf.2_5'UTR|FEZ2_uc002rph.2_Missense_Mutation_p.D156E|FEZ2_uc002rpj.2_Missense_Mutation_p.D156E	NM_001042548	NP_001036013	Q9UHY8	FEZ2_HUMAN	Homo sapiens fasciculation and elongation protein zeta 2 (zygin II) (FEZ2), transcript variant 2, mRNA.	156					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				AGAGGGGTTCATCATTAACAC	0.438												
CD8A	925	broad.mit.edu	37	2	87013056	87013056	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:87013056G>A	uc002srt.3	-	5	1584	c.695C>T	c.(694-696)gCg>gTg	p.A232V	RMND5A_uc002srs.4_Intron|CD8A_uc002srv.3_Missense_Mutation_p.A232V|CD8A_uc010ytn.2_Missense_Mutation_p.A273V|CD8A_uc002sru.3_Missense_Mutation_p.A195V	NM_001768	NP_001759	P01732	CD8A_HUMAN	Homo sapiens CD8a molecule (CD8A), transcript variant 1, mRNA.	232					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GACGTATCTCGCCGAAAGGCT	0.507												
TRIM43	129868	broad.mit.edu	37	2	96262159	96262159	+	Missense_Mutation	SNP	A	A	T	rs149986492		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:96262159A>T	uc002suv.3	+	3	853	c.717A>T	c.(715-717)aaA>aaT	p.K239N		NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN	Homo sapiens tripartite motif containing 43 (TRIM43), mRNA.	239						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGTGTCATAAACCAGATGTGG	0.413												
GPR148	344561	broad.mit.edu	37	2	131486773	131486773	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:131486773G>A	uc002trv.2	+	0	131	c.49G>A	c.(49-51)Gcc>Acc	p.A17T		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	17						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGCTTGGCCGGCCCTGATCCA	0.612												
PLCB1	23236	broad.mit.edu	37	20	8352082	8352082	+	Silent	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:8352082C>T	uc002wnb.3	+	2	234	c.231C>T	c.(229-231)caC>caT	p.H77H	PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Silent_p.H77H|PLCB1_uc002wmz.1_Silent_p.H77H|PLCB1_uc002wna.3_Silent_p.H77H	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	77					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			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						GTGGGAGACACGCCAAAGCTC	0.468												
SSTR4	6754	broad.mit.edu	37	20	23016952	23016952	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:23016952G>T	uc002wsr.2	+	0	896	c.832G>T	c.(832-834)Gtg>Ttg	p.V278L		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	278					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TTTCTACGTGGTGCAGCTGCT	0.577												
PREX1	57580	broad.mit.edu	37	20	47244458	47244458	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:47244458G>A	uc002xtw.1	-	37	4833	c.4810C>T	c.(4810-4812)Cgg>Tgg	p.R1604W	PREX1_uc021wer.1_5'Flank|PREX1_uc002xtv.1_Missense_Mutation_p.R901W	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1604					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.R1604W(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)			CCGTGGCTCCGTGCCAAGATG	0.692												
KCNG1	3755	broad.mit.edu	37	20	49621144	49621144	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:49621144C>T	uc002xwa.4	-	2	1269	c.974G>A	c.(973-975)cGt>cAt	p.R325H		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	325						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGCTTGCGACGGCCTGCGGC	0.701												
SCARF2	91179	broad.mit.edu	37	22	20784714	20784714	+	Splice_Site	SNP	A	A	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr22:20784714A>C	uc002zsj.2	-	6	1307	c.1202_splice	c.e6+1	p.H401_splice	SCARF2_uc002zsk.2_Splice_Site_p.H401_splice	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	401	EGF-like 7.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGGGCACTCACTGGGGCCCG	0.711												
CACNA1I	8911	broad.mit.edu	37	22	40078576	40078576	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr22:40078576G>A	uc003ayc.3	+	34	5740	c.5740G>A	c.(5740-5742)Gtc>Atc	p.V1914I	CACNA1I_uc003ayd.3_Missense_Mutation_p.V1879I|CACNA1I_uc003aye.3_Missense_Mutation_p.V1829I|CACNA1I_uc003ayf.3_Missense_Mutation_p.V1794I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1914					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTCTACGGCCGTCTCGCCGGA	0.592												
DLEC1	9940	broad.mit.edu	37	3	38104257	38104257	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr3:38104257G>A	uc003chp.1	+	4	1080	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	DLEC1_uc003cho.1_Silent_p.P353P|DLEC1_uc010hgv.1_Silent_p.P353P|DLEC1_uc010hgw.1_Silent_p.P52P|DLEC1_uc003chq.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	353					negative regulation of cell proliferation	cytoplasm				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)		AGCCAGCACCGATAGGAGAAT	0.463												
ULK4	54986	broad.mit.edu	37	3	41953077	41953077	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr3:41953077T>G	uc003ckv.4	-	9	1172	c.971A>C	c.(970-972)aAa>aCa	p.K324T	ULK4_uc003ckw.2_Missense_Mutation_p.K324T|ULK4_uc003ckx.1_Missense_Mutation_p.K324T	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	324							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTTGTGCCCTTTTGCTTGTCT	0.413												
LRBA	987	broad.mit.edu	37	4	151788860	151788860	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr4:151788860C>T	uc010ipj.3	-	21	2973	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	LRBA_uc003ilu.4_Missense_Mutation_p.R910H	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	910						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TACCCATACACGCCAGCCACC	0.343												
DIMT1	27292	broad.mit.edu	37	5	61686705	61686705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr5:61686705delG	uc003jta.3	-	10	1026	c.897delC	c.(895-897)atcfs	p.I299fs		NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN	Homo sapiens DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) (DIMT1), mRNA.	299				Missing (in Ref. 2; AAH02841).		nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity										GTAATTACCTGATGAAGTCAT	0.383												
PCDHGC5	56102	broad.mit.edu	37	5	140752102	140752102	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr5:140752102G>A	uc003ljw.2	+	0	2141	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.R714H|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	716					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTCCCTGCGCCTGCGATGC	0.582												
FLT4	2324	broad.mit.edu	37	5	180048197	180048197	+	Silent	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr5:180048197G>A	uc003mlz.4	-	13	2155	c.2076C>T	c.(2074-2076)agC>agT	p.S692S	FLT4_uc003mma.4_Silent_p.S692S|FLT4_uc003mmb.1_Silent_p.S225S|FLT4_uc011dgy.2_Silent_p.S692S	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	692	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGCGAGTCGCTCACGTTCA	0.632												
GRM4	2914	broad.mit.edu	37	6	34004373	34004373	+	Missense_Mutation	SNP	C	C	T	rs142049660	by1000genomes	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:34004373C>T	uc003oir.4	-	7	1877	c.1514G>A	c.(1513-1515)cGg>cAg	p.R505Q	GRM4_uc011dsn.2_Missense_Mutation_p.R458Q|GRM4_uc010jvh.3_Missense_Mutation_p.R505Q|GRM4_uc010jvi.3_Missense_Mutation_p.R197Q|GRM4_uc003oio.3_Missense_Mutation_p.R197Q|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.R365Q|GRM4_uc003oiq.3_Missense_Mutation_p.R372Q|GRM4_uc011dsm.2_Missense_Mutation_p.R336Q	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	505					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CCAGTGCATCCGCTCTATCTG	0.647												
DNAH8	1769	broad.mit.edu	37	6	38957817	38957817	+	Silent	SNP	G	G	A	rs143472136	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:38957817G>A	uc021yzh.1	+	87	13192	c.13083G>A	c.(13081-13083)ccG>ccA	p.P4361P	DNAH8_uc003ooe.2_Silent_p.P4144P	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTTGAACCGTCATTCTGCT	0.368												
OPN5	221391	broad.mit.edu	37	6	47763200	47763200	+	Silent	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:47763200C>T	uc003ozc.3	+	3	685	c.657C>T	c.(655-657)taC>taT	p.Y219Y	OPN5_uc003ozd.3_Silent_p.Y54Y	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	219					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTTCTCCTACGTAAAGATCA	0.512												
PKHD1	5314	broad.mit.edu	37	6	51889738	51889738	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:51889738G>A	uc003pah.1	-	31	5146	c.4870C>T	c.(4870-4872)Cgg>Tgg	p.R1624W	PKHD1_uc003pai.3_Missense_Mutation_p.R1624W	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1624	IPT/TIG 11.		R -> W (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R1624W(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAATGCACCGGATGAGCTCA	0.507												
OOEP	441161	broad.mit.edu	37	6	74079390	74079390	+	Silent	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:74079390C>T	uc003pgu.4	-	0	126	c.126G>A	c.(124-126)ccG>ccA	p.P42P	OOEP_uc003pgv.4_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	42						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GTTCCTGCACCGGAAACCACC	0.622												
FILIP1	27145	broad.mit.edu	37	6	76024625	76024625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:76024625G>T	uc010kbe.3	-	5	1462	c.932C>A	c.(931-933)tCg>tAg	p.S311*	FILIP1_uc003phy.1_Nonsense_Mutation_p.S308*|FILIP1_uc003phz.3_Nonsense_Mutation_p.S209*|FILIP1_uc003pia.3_Nonsense_Mutation_p.S308*|FILIP1_uc003pib.1_Nonsense_Mutation_p.S60*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	308										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGAAAACCTCGAAGCCTTGTG	0.423												
SEC63	11231	broad.mit.edu	37	6	108225906	108225906	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:108225906T>G	uc003psc.4	-	10	1250	c.981A>C	c.(979-981)aaA>aaC	p.K327N	SEC63_uc003psb.4_Missense_Mutation_p.K187N	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	327	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CAGGACACTTTTTTAGCATGA	0.348												
GPR126	57211	broad.mit.edu	37	6	142736937	142736937	+	Silent	SNP	T	T	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:142736937T>C	uc010khe.3	+	19	3085	c.2674T>C	c.(2674-2676)Ttg>Ctg	p.L892L	GPR126_uc010khc.3_Silent_p.L892L|GPR126_uc010khd.3_Silent_p.L864L|GPR126_uc010khf.3_Silent_p.L864L	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	892					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTTTAGGAAATTGCGAAGGGA	0.403												
RUNDC3B	154661	broad.mit.edu	37	7	87258211	87258211	+	Silent	SNP	G	G	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:87258211G>C	uc003ujb.3	+	0	483	c.72G>C	c.(70-72)ctG>ctC	p.L24L	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Silent_p.L24L|RUNDC3B_uc011khe.2_Silent_p.L24L|RUNDC3B_uc003ujc.3_Silent_p.L24L	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	24										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AGAAAAGCCTGAGCGCCCGCA	0.716												
RELN	5649	broad.mit.edu	37	7	103338350	103338350	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:103338350C>T	uc022ajr.1	-	9	1253	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	RELN_uc022ajq.1_Missense_Mutation_p.D365N|RELN_uc010liz.3_Missense_Mutation_p.D365N	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	365					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.L364I(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)		TCCACTGGGTCGAGACTATCT	0.423												
CHCHD3	54927	broad.mit.edu	37	7	132754903	132754903	+	Silent	SNP	T	T	C			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:132754903T>C	uc022alw.1	-	2	300	c.169_splice	c.e2+1	p.V57_splice	CHCHD3_uc003vre.3_Splice_Site_p.V57_splice|CHCHD3_uc010lmi.3_Splice_Site|CHCHD3_uc011kpn.1_Splice_Site_p.V57_splice	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 3 (CHCHD3), mRNA.	57					inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						CAGCAATACCTGAGGCACCAT	0.378												
KEL	3792	broad.mit.edu	37	7	142655026	142655026	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:142655026G>T	uc003wcb.3	-	5	770	c.560C>A	c.(559-561)tCc>tAc	p.S187Y		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	187					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAAGTTTAAGGAAGTCCATTT	0.517												
CLCN1	1180	broad.mit.edu	37	7	143036401	143036401	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:143036401C>G	uc003wcr.1	+	12	1544	c.1457C>G	c.(1456-1458)cCt>cGt	p.P486R	CLCN1_uc011ktc.1_Missense_Mutation_p.P98R	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	486					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			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)					GGCTTCATGCCTGTGTTTGTG	0.517												
ARHGEF10	9639	broad.mit.edu	37	8	1806268	1806268	+	Silent	SNP	C	C	A	rs111294316	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr8:1806268C>A	uc003wpr.3	+	2	358	c.180C>A	c.(178-180)gcC>gcA	p.A60A	ARHGEF10_uc003wpq.1_Silent_p.A84A|ARHGEF10_uc003wps.3_Silent_p.A60A|ARHGEF10_uc003wpt.3_5'Flank|ARHGEF10_uc010lrd.2_5'Flank|ARHGEF10_uc003wpu.3_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	84					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCAGTGAAGCCCCTGCACCCA	0.617												
TRIM55	84675	broad.mit.edu	37	8	67062093	67062093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr8:67062093G>T	uc003xvv.3	+	4	1043	c.817G>T	c.(817-819)Gaa>Taa	p.E273*	TRIM55_uc003xvu.3_Nonsense_Mutation_p.E273*|TRIM55_uc003xvw.3_Nonsense_Mutation_p.E273*|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	273	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GGATGAGCCAGAAATGGCAGT	0.378												
DENND4C	55667	broad.mit.edu	37	9	19346294	19346294	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:19346294C>T	uc003znq.3	+	17	2752	c.2672C>T	c.(2671-2673)cCg>cTg	p.P891L	DENND4C_uc011lnc.2_Missense_Mutation_p.P221L|DENND4C_uc011lnd.2_Missense_Mutation_p.P179L|DENND4C_uc003znr.3_Missense_Mutation_p.P179L|DENND4C_uc003zns.3_Missense_Mutation_p.P73L|DENND4C_uc003znt.3_Missense_Mutation_p.P73L	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	891						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGATCATCTCCGGTGCCAGAG	0.443												
PGM5	5239	broad.mit.edu	37	9	71080089	71080089	+	Missense_Mutation	SNP	G	G	A	rs141668530		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:71080089G>A	uc004agr.3	+	6	1353	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	375					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GACTCAGGACGTTGCAATCTG	0.473												
APBA1	320	broad.mit.edu	37	9	72130983	72130983	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:72130983G>A	uc004ahh.2	-	1	1420	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	382	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ATGTCCTGGCGCATGACCCAG	0.622												
GOLGA2	2801	broad.mit.edu	37	9	131020819	131020821	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:131020819_131020821delTCC	uc011maw.2	-	20	2134_2136	c.2121_2123delGGA	c.(2119-2124)gaggat>gat	p.E707del	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_In_Frame_Del_p.E180del|JA429730_uc022bod.1_5'Flank|DQ583692_uc022bog.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	707	Poly-Glu.					Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ctcctcctcatcctcctcctcct	0.650												
SOHLH1	402381	broad.mit.edu	37	9	138586907	138586907	+	Silent	SNP	C	C	T			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:138586907C>T	uc010nbe.3	-	5	925	c.864G>A	c.(862-864)gcG>gcA	p.A288A	SOHLH1_uc004cgl.3_Silent_p.A288A	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	288					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.A288A(3)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CGGCCTCCTGCGCCAGCATGG	0.697